Podcasts about recessive

The Trio of Danger are back to review Dragon Ball Super Manga Chapter 101! Tune in to hear Becs, Matt, and Trav chop it up about DBS, Goku eating food in the Dragonball Daima Trailer, and the new Boudokai 4 preview. Find Miss Majin at: Instagram: @miss_majin_ & dbz_queen_ YouTube: Miss Majin (@Miss_Majin_Anime_Queen) Twitch: Miss_majin_ Check out our Linktree and other podcasts: ⁠⁠⁠⁠https://linktr.ee/db4l⁠⁠⁠⁠  Subscribe on Apple Podcasts: ⁠⁠⁠⁠https://podcasts.apple.com/us/podcast/dragon-ball-4-life/id1645000686⁠⁠⁠⁠  Subscribe on Spotify: ⁠⁠⁠⁠https://open.spotify.com/show/0WTmVFsC3z7sdl0UEZiP2X⁠⁠⁠⁠  Subscribe on Google Podcasts: ⁠⁠⁠⁠https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy84MGY3MDEwNC9wb2RjYXN0L3Jzcw⁠⁠⁠⁠  Follow us on Instagram: ⁠⁠⁠⁠https://www.instagram.com/db4l_pod/⁠⁠⁠⁠  Follow us on Twitter (X?): ⁠⁠⁠⁠https://twitter.com/DB4L_POD⁠⁠⁠⁠ --- Support this podcast: https://podcasters.spotify.com/pod/show/db4lpod/support

In this episode of the Ancient Health Podcast, Dr. Motley explores the topic of recessive genes and why they can express themselves, even when individuals are doing all the right things for their health. Using his own experience with Lyme disease, Dr. Motley discusses how certain symptoms, such as brain fog and migraines, may persist despite other improvements in overall health. If you've hit a wall in your health journey and are experiencing symptoms like gut issues, skin issues, or chronic infections, this episode is for you. Tune in to learn more about recessive genes and gene therapy. Topics Discussed: 03:32 Genetics can impact health expression. 06:00 Genes affect muscle strength. 11:15 Nutrients are crucial for gene expression. 18:13 Nutrients activate genes for health. 23:13 Healing genes through nutritional support. 28:49 Nourish your genes for health. Dr. Motley's Recomended Labs: Bacteria and Yeast: microgendx.com Parasites: parasitetesting.com Parasites: parawellnessresearch.com Heavy Metals and Toxins, Krebs Cycle: gdx.net Mold Toxins and Mold: mosaicdx.com Lyme, EBV, Viruses: vibrant-wellness.com/HomePage Lyme Disease: dnaconnexions.com Lyme and other infections: vibrant-wellness.com/HomePage Get 15% OFF your first Leela Quantum Tech (LEELAQ.COM) https://bit.ly/3S3z83D order with code ANCIENT Follow Dr. Motley on Instagram:  @doctormotley Follow @healthinstitute on Instagram!  @healthinstitute Join Our Newsletter!  thehealthinstitute.com/wellness-weekly 

Trap Talk Reptile Podcast Ep. 384 w/ KG & Jaffy of Show & Tell Support Anthony of Str8Fire here: https://popup.doublegood.com/s/5k6k48gmJOIN TRAP TALK PATREON HERE: https://bit.ly/311x4gxSUBSCRIBE TO THE TRAP TALK PODCAST: https://bit.ly/39kZBkZSUBSCRIBE TO TRAP TALK CLIPS:https://www.youtube.com/channel/UCA40BzRi5eeTRPmwY6XSdVASUBSCRIBE TO THE TRAP VLOGS:https://www.youtube.com/channel/UCKxLByAE_Kt06XayYFOxHqLIMITED EDITION TRAP TALK POCKET TEES:thesnaketrapsessions@gmail.comMORPH MARKET STORE: https://www.morphmarket.com/stores/exoticscartal/SUPPORT USARK: https://usark.org/memberships/Follow On IG: The Trap Exotics https://bit.ly/3hthAZuTrap Talk Podcast https://bit.ly/2WLXL7w Unfiltered Reptiles Podcast https://bit.ly/3eSqAFMSubscribe to Unfiltered Reptiles Podcast: https://bit.ly/2WM11jsListen On Apple:Trap Talk With MJ https://bit.ly/2CVW9Bd Unfiltered Reptiles Podcast https://bit.ly/3jySnhV Listen On Spotify:Trap Talk With MJ https://bit.ly/2WMcKOO Unfiltered Reptiles Podcast https://bit.ly/2ZQ2JCbTrap Talk Reptile Podcast Sponsors:ALWAYS EVOLVING PYTHONS https://www.instagram.com/alwaysevolvingpythons/FREEDOM BREEDERhttps://www.freedombreeder.com/MARC BAILEY REPTILES https://www.morphmarket.com/stores/marcbailey/MERSHON MORPHShttps://mershonsmorphs.net/https://www.instagram.com/mershonsmorphs/BLAKES EXOTIC ANIMAL RANCH https://blakesexoticanimalranch.com/SIMS CONTAINER https://www.instagram.com/simcontainer/FOCUS CUBED HABITAT https://www.instagram.com/focuscubedhabitats/RIDICULOUS RHACShttps://www.instagram.com/ridiculousrhacs/TOFAUTI ROYALS OF AFRICA https://www.instagram.com/tofauti_royals/GS REPTILES https://www.instagram.com/gs.reptiles/https://www.youtube.com/@gsreptiles5606JUGGERNAUT REPTILEShttps://www.instagram.com/juggernautreptiles/https://www.youtube.com/@juggernautreptilesSHIP YOUR REPTILES - ALL PRO SHIPPINGhttps://shipyourreptiles.com/https://www.instagram.com/shipyourreptiles_official/RARE GENETICS INChttps://www.raregeneticsinc.com/https://www.instagram.com/raregeneticsinc/https://www.youtube.com/@raregeneticsinc8166 CLTCHhttps://cltch.io/https://www.instagram.com/cltch/Follow & Support:https://www.instagram.com/bomb_projects/https://www.instagram.com/jaffyexotics/https://www.trappodcast.com#fyp #reptiles #coolestreptilepodcastintheworld

In 1891, Guido Werdnig documented two cases of brothers who had global progressive muscular weakness. In 1935, Dr Dorothy Anderson conducted an autopsy on a young child who had died from malnutrition due to suspected coeliac disease despite being on the upon treatment. In 1943, in inherited form of intellectual disability in boys was described by Martin and Bell. The diseases are Spinal Muscular Atrophy, Cystic Fibrosis, and Fragile X syndrome respectively. The learning curve for genetics in the last 100 years has been a steep one. Recessive genes circulate in the general community and for the most part, they are hidden and play no part in day-to-day life. Some may even have had a survival advantage in pre-modern times. However, if two parents each carry matching recessive genes, there is an increased chance that their children can have a severe or even life-threatening illness. Carrier screening provides a test for parents to assess this risk, however, it also requires an understanding of the testing paths, risks and cost from requesting doctors. This is the story of carrier screening Our special guest is Professor Graeme Suthers who is the Director of Sonic Genetics Australia. Additional information: Link to further information about reproductive carrier screening: https://www.sonicgenetics.com.au/patient/test-information/rcs/ Link to carrier screening online patient course: https://www.sonicgenetics.com.au/patient/test-information/rcs/carrier-screening-online-patient-course/See omnystudio.com/listener for privacy information.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.02.25.530035v1?rss=1 Authors: Du, W., Ergin, V., Loeb, C., Huang, M., Silver, S., Armstrong, A. M., Huang, Z., Gurumurthy, C., Staecker, H., Liu, X., Chen, Z.-Y. Abstract: Patients with mutations in the TMPRSS3 gene suffer from recessive deafness DFNB8/DFNB10 for whom cochlear implantation is the only treatment option. Poor cochlear implantation outcomes are seen in some patients. To develop biological treatment for TMPRSS3 patients, we generated a knock-in mouse model with a frequent human DFNB8 TMPRSS3 mutation. The Tmprss3A306T/A306T homozygous mice display delayed onset progressive hearing loss similar to human DFNB8 patients. Using AAV2 as a vector to carry a human TMPRSS3 gene, AAV2-hTMPRSS3 injection in the adult knock-in mouse inner ears results in TMPRSS3 expression in the hair cells and the spiral ganglion neurons. A single AAV2-hTMPRSS3 injection in aged Tmprss3A306T/A306T mice leads to sustained rescue of the auditory function, to a level similar to the wildtype mice. AAV2-hTMPRSS3 delivery rescues the hair cells and the spiral ganglions. This is the first study to demonstrate successful gene therapy in an aged mouse model of human genetic deafness. This study lays the foundation to develop AAV2-hTMPRSS3 gene therapy to treat DFNB8 patients, as a standalone therapy or in combination with cochlear implantation. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor's in molecular biology and minors in physics, computer science, and applied mathematics.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On this episode we discuss:Noninvasive prenatal testing (NIPT)What is UNITY Screen and why the name UNITY?Recessive conditions included in UNITY ScreenInformation included in a UNITY NIPT reportTest specificity and sensitivity differences between ethnicitiesHow typical carrier screening flows work differently with UNITYWhy it is helpful to have information regarding the chance a pregnancy is affected by a recessive conditionBillionToOne's plans to include more recessive conditions in UNITY ScreenTo stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

ENJOY THOUSANDS OF SHOWS THAT YOU MAY HAVE MISSED IN THE LANCESCURV VIDEO COLLECTION: https://www.lancescurv.com/video-collection/ UNDERGROUND MEDIA RENEGADE | CULTURE CRITIC | PODCAST HOST | DIGITAL NOMAD | BLOGGER & CARTOONIST WHO FOCUSES ON THE ISSUES OF RAW HUMAN NATURE THAT THE MAINSTREAM MEDIA IS DEATHLY AFRAID TO TOUCH! THE LANCESCURV PODCAST COVERS CURRENT EVENTS, TRENDING HAPPENINGS, NEWS AND THOUGHT-PROVOKING TOPICS OF INTEREST IN AN UNCOMPROMISING UNCENSORED MANNER.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.01.10.523203v1?rss=1 Authors: Busley, A. V., Gutierrez-Gutierrez, O., Hammer, E., Steinegger, M., Boehmer, L., Schroeder, H., Kleinsorge, M., Altmueller, J., Marbach, F., Hasenfuss, G., Zimmermann, W.-H., Wollnik, B., Cyganek, L. Abstract: Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. However, the underling disease mechanisms of LZTR1 missense variants driving the cardiac pathology are poorly understood. Hence, therapeutic options for Noonan syndrome patients are limited. In this study, we investigated the mechanistic consequences of a novel homozygous causative variant LZTR1L580P by using patient-specific and CRISPR/Cas9-corrected iPSC-cardiomyocytes. Molecular, cellular, and functional phenotyping in combination with in silico prediction of protein complexes uncovered a unique LZTR1L580P-specific disease mechanism provoking the cardiac hypertrophy. The homozygous variant was predicted to alter the binding affinity of the dimerization domains facilitating the formation of linear LZTR1 polymer chains. The altered polymerization resulted in dysfunction of the LZTR1-cullin 3 ubiquitin ligase complexes and subsequently, in accumulation of RAS GTPases, thereby provoking global pathological changes of the proteomic landscape ultimately leading to cellular hypertrophy. Importantly, uni- or biallelic genetic correction of the LZTR1L580P missense variant rescued the molecular and cellular disease-associated phenotype, providing proof-of-concept for CRISPR-based gene therapies. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Conan chats with Molly from Collingwood, Ontario about working as a model, being paid to plant trees, and whether they might be related. Wanna get a chance to talk to Conan? Submit here: TeamCoco.com/CallConan

It's time for ROCKTOBER '22! What better way to kick it off than by bringing back the legendary John Flansburgh, co-founder of They Might Be Giants!See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Is your business set up for an excellent sales experience in Q4 this year, despite the looming recessive period ahead?   If the answer to that question is “no” for you, then this episode will be a great one to listen in on as I'm sharing the 3 things every business owner should be doing as we move into what promises to be a very challenging quarter for people who aren't prepared for it.   Recessive periods do not have to be scary or doom and gloom. They can be an amazing time to make sales and revenue, and this Q4 has the potential to be your best quarter yet!   In this episode, I'm discussing;   How do people end up ruining the biggest potential sales period for their business every year? (2:55) How can Converting Corporates help you recession proof your business? (4:20) Whether you are paying someone to help you, or doing it yourself there are steps you must be taking to ensure your business makes sufficient revenue during periods of economic challenge. (8:00) One beautiful thing about selling to corporates is that Summer can be a time for relaxation and time off, just as your clients use it, so long as you set yourself up in advance. (14:20) What is the first key thing to focus on to ensure that your business doesn't experience feast or famine revenue periods? (18:07) Do you have qualified leads in your pipeline for September? (21:16) Do you have a plan in place to recession proof your business? (24:35) What will you be doing during Q3 in terms of learning and development that will assist you in making Q4 an amazing sales quarter? (31:32) Key Resources Mentioned in this Episode:   If you want to attend our September Converting Corporates event and benefit from the early bird pricing, make sure you check out our Converting Corporates event page by clicking here or visiting: https://selltocorporates.com/converting-corporates-2022/    Join The C Suite ® now! If you're looking to get the best support in selling your services to corporate organisations, not to mention hundreds of email templates, swipe files and proposal outlines so that you really can convert at much higher rates and sell your services more successfully then click here to join the waitlist now.   Take the Selling to Corporate ® offer quiz and find out what the best offer is that you could sell to corporate.    Converting Corporates Bundle: If you're looking to learn the foundational pieces to successfully sell your services to corporate organisations, grab this fabulous self study programme here! You'll learn how to; Create your 250K corporate sales plan, set your business development strategy for success, understand and successfully generate qualified leads and hear from real hiring managers on their top tips for pitching to organisations!    Book an exploratory chat with me! I'm offering exploratory sessions with me so that you can ask any questions you have about The C Suite ® and how it can benefit your business. These opportunities are incredibly limited - so if you'd like my eyes on your business and a totally transparent conversation about how The C Suite ® could support your goals, schedule your call today.   Top 5 Business Development Questions: If you're looking to convert more business development calls into sales? You need to be asking the right questions and getting the best information to support future work. Download my Top 5 BDQs here and start getting quality information from your prospects.   If you've been consuming the content and LOVE the show, please make sure you take five minutes out of your day to leave a review. 

Is having a large head a recessive or dominant trait? Can you be a biker even if you have never riden a motocycle? Make sure to not miss the journey as you are pursuing life.  Join me on this 10th Anniversary reading of my book, Ride On.  This is an adventure that teaches me lessons about life, faith and what really matters most.Section One : Searching for the Soul {Engine Rebuilding}Chapter One : Recessive Gene Found {Engine Rebuild Methods}               I, the author, am the reader for this podcast and am not a professional voice actor. I truly hope you enjoy it and feel free to contact me at joseph@smalltownwanderer.com if you have questions or just want to give me a wave. Check out my Amazon Link to buy a kindle or paperback version for yourself or a friend. Leaving  a ncie review there would be very appreciated. 

In this episode we chatted to Shay from Obsessive Recessive. We hear Shay telling us all about how Obsessive Recessive got started, hobby breeding, how Obsessive Recessive made the move in to an online shop providing dry goods, supplements and enrichment for your Reptiles. Shay also details the future plans for Obsessive Recessive. We hope you enjoy the episode and find it informative. Please feel free to contact us with any feedback you may have.The Herping Hour TeamSponsored by Amphibipod, Colourful Cresties and Herptile HammocksPodcast InformationAmphibipodFacebook: https://www.facebook.com/Amphibipod/Instagram: https://instagram.com/amphibipodColourful CrestiesFacebook: https://www.facebook.com/colourfulcresties/Instagram: https://www.instagram.com/colourfulcresties/Etsy Store: www.colourfulcresties.etsy.comWebsite: http://www.colourfulcresties.co.uk/homeHerptile HammocksFacebook: https://m.facebook.com/herptilehammocks/Instagram: https://instagram.com/herptilehammocksObsessive RecessiveWebsite: https://obsessiverecessive.comFacebook:  www.facebook.com/obsessiverecessive/Instagram: https://instagram.com/obsessive_recessive/The Herping Hour PodcastFacebook: https://www.facebook.com/theherpinghourpodcast/Instagram:  https://instagram.com/theherpinghourpodcastYouTube: https://youtube.com/channel/UC8r4y-T_xwvPVdnhyvbw1NQAll major Podcast providers including Spotify, Google Podcasts and Apple PodcastsLily Rose ReptilesFacebook: https://www.facebook.com/lilyrosereptiles/Instagram: https://instagram.com/lilyrosereptilesTwitter: https://twitter.com/LilyrosereptileYouTube: https://youtube.com/channel/UCAtl6BJd5Gb4dQPzIHBht6gTikTok: https://vm.tiktok.com/ZMRDQAK87/Dawn of time exotics -Facebook: https://www.facebook.com/dawnoftimereptiles/Instagram: https://instagram.com/dawnoftime.exoticsSupport the show

Recessive dystrophic epidermolysis bullosa is a rare, genetic, progressive condition caused by the deficiency of collagen type VII. People with severe cases of the condition suffer from blistering, vision loss, disfigurement, and other serious medical problems. Castle Creek Biosciences is developing a therapy that involves genetically modifying a patient's own fibroblasts—the cells in the connective tissue—to get them to produce collagen VII. The modified cells are injected where needed and can be dosed repeatedly. We spoke to Matthew Gantz, president and CEO of Castle Creek, about the company's experimental therapy for RDEB, how it works, and how the company is building out its pipeline through dealmaking.

LET'S BE CLEAR ABOUT THAT, WHITE PEOPLE...

610: Saving Seeds of Cucurbits. A chat with an expert on Seeds. In This Podcast: At least ten times a year we have a live Seed Saving Class with Bill McDorman. This is the May 2021 class discussing cucurbit varieties, crossbreeding squashes versus melons, and so much more on the main species of cucurbits and their differences that allow for 'wild crosses'. Join the class! Register anytime for the next event.Register Here for the Seed Saving Class with Live Q&A Bill McDorman is Executive Director of Rocky Mountain Seed Alliance, Ketchum, Idaho. He got his start in the bio-regional seed movement while in college in 1979 when he helped start Garden City Seeds. In 1984, Bill started Seeds Trust/High Altitude Gardens, a mail order seed company he ran successfully until it sold in 2013. Visit www.urbanfarm.org/seeds21may for the show notes on this bonus episode, and access to our full podcast library!

My AP Biology Thoughts  Unit 5 HeredityWelcome to My AP Biology Thoughts podcast, my name is Corrinna and I am your host for episode #100 called Unit 5 Heredity: X-Linked Inheritance & Polygenic Inheritance. Today we will be discussing how X-linked inheritance and polygenic inheritance work. Segment 1: Introduction to X-Linked Inheritance & Polygenic InheritanceX-linked and polygenic are both different types of non-mendelian inheritance. Mendelian inheritance follows the laws of segregation and independent assortment, so X-linked and polygenic traits by definition do not follow these laws.  X-linked traits are traits whose alleles are carried on the sex chromosomes instead of the normal chromosomes. Males have XY sex chromosomes, and females have XX sex chromosomes. In x-linked inheritance, the allele for a trait is only carried on the x chromosome. This means that any male who inherits the allele will express the trait since he only has one copy of the x chromosome. X-linked traits can be dominant or recessive, just like in mendelian inheritance. However, since the alleles are located on the x chromosome, any male who gets the linked allele will express the trait. In females, x-linked inheritance works like mendelian inheritance - if both x chromosomes have the recessive allele, it is expressed, otherwise the dominant allele will always be expressed. Polygenic inheritance is when a single phenotypic trait is controlled by multiple genes. This is different from multiple alleles because in polygenic inheritance, all of the polygenic genes can be found in an individual, while in multiple alleles, only two of the alleles are present in an individual. Polygenic inheritance also produces a range of phenotypes, rather than specific distinct phenotypes. Polygenic inheritance also doesn't exhibit complete dominance, which is why there is a range of phenotypes.  Segment 2: More About X-Linked Inheritance & Polygenic InheritanceOne example of an x-linked trait is hemophilia. In males who possess the altered copy of the gene, they will always express the phenotype for hemophilia because they only have one copy of the X chromosome. However women need two copies of the altered gene to express the phenotype. This is because hemophilia is an x-linked RECESSIVE trait. If it was x-linked dominant, the woman would only need one copy of the altered gene to express the phenotype. Polygenic inheritance includes traits like hair color, height, and skin color, as well as non visible traits like blood pressure and intelligence. Skin color is one example of this. Skin color is controlled by the pigment melanin, and darker skin results from more melanin. Hypothetically, the production of melanin is controlled by contributing alleles which will be called A, B, and C, which results in dark skin color. The non contributing alleles lowercase a, b, and c, produce a light skin color. Since polygenic alleles don't display dominance, each contributing allele gives an additive effect in which the different alleles create a spectrum of possible phenotypes. In this example, individuals with all uppercase alleles will have the darkest skin, and individuals with all lowercase alleles will have the lightest skin color.  Segment 3: Connection to the CourseX-linked and polygenic inheritance are very common. Although most people only learn about Mendelian inheritance, x-linked and polygenic traits are still prevalent and control many prominent phenotypic traits, such as hair and skin color, as well as susceptibility to diseases.  X-linked and polygenic traits prove that mendelian inheritance isn't the most important pattern of inheritance, even if it may be the most commonly known. Because x-linked traits often determine an individual's susceptibility to diseases, they are extremely important to understand. Additionally because polygenic inheritance is easily seen in people's skin and hair color, it is...

In our third Rewind episode, I'm going to go back over the concept of dominant vs. recessive as a mechanism of genetic inheritance, which I've touched upon before but not really in any great detail. Sources for this episode: 1) Fullick A., Locke, J. and Bircher, P. (2015), A Level Biology for OCR A. Oxford: Oxford University Press. 2) Thain, M., and Hickman, M. (2014), The Penguin Dictionary of Biology, 11th edition. London: Penguin Publishing Group. 3) Author unknown, Wikipedia (date unknown), Eye color (online) [Accessed 19/01/2021].

Prius free Trump Caravan Christopher: "I start off slow and move into fast." James: "I start off slow and I stay slow." "I like Creme de Mint on my ice-cream." Christopher cheats on James (coffee) Before the sun comes out and kills everyone James is so thoughtful that he wakes up before his alarm goes off so he doesn't disturb the rest of his household MacApline's Creepy high schools James is too dead to have COVID Christopher pranks his friends into thinking the train hit him James doesn't trust his brain Free will is an illusion Christopher smells his way through life Christopher listens to lights Brains, brains, brains Mixed up To Sail Beyond the Sunset and I Will Fear No Evil Where is the thinker of your thoughts Souls are an evolutionary advantage Monsters with blue eyes (blue eye mutation is 6000 years old) Dominant & Recessive gene theory Generational pressure influences which genes get expressed (Epigenetics) The lack of proof is not proof Theists and antitheists are both silly Christopher sings at the ghost The ghosts at San Carlos Hotel love Christopher Everything from the exploration of consciousness to dragon eyeballs

#dyslexia #mariannecintron #earlyinterventionIs Dyslexia a Recessive Gene or Dominant Gene?Kids with dyslexia can have genetic dyslexia or developmental dyslexia. Listen and watch and learn about a little boy coming to me in church and telling me about his inability to read. He was a very intelligent first grader and needed help now! I believe Jesus sent him tome in church. Please subscribe to our channel, and share this video! If this video has inspired you, please visit our website and consider donating so we can continue to bring these awesome messages to you.https://www.stepbystepdyslexiasolutions.com/Dr. Marianne Cintron is a Doctor of Education in Leadership and Administration, has a Masters in General Education and one in Special Education, and has two California Teaching Credentials. She is a Dyslexia Specialist, President of Step By Step Dyslexia Solutions, and an International Teacher Trainer. She has twenty years of experience in Education, ten years as a Classroom Teacher, is an Author, App Developer, Curriculum Writer, and Speaker, Virtual Teacher Trainer and Speaker.https://www.stepbystepdyslexiasolutions.com/ 

What a clever, clever trick it was to convince the dominant that the dominant is recessive and that the recessive is dominant! And as a result, we witness the dominant having with a recessive mindset and functioning with recessive behaviors. What is the evidence of our recessive mindset? Low Self Esteem. Insecurity. Dependency. Apathy. Self Hatred. If we do not unlock our latent genius for the purpose of self love and self service, our progress will forever be limited. It is through education and learning the knowledge of self that we will recognize our own excellence and begin functioning with the distinction that is rightfully ours. If you would like to engage with the Nurah Speaks podcast, submit your listener questions to info@NurahSpeaks.com. Listeners can also learn more about Nurah by visiting her website: NurahSpeaks.com or reading her blog by clicking this link. Follow Nurah Speaks @NurahSpeaksPodcast on Facebook, Twitter and Instagram. To bring Nurah as a speaker at your next event, email info@NurahSpeaks.com. Remember, don't just Join the Movement, Be the Movement!

In this episode, Annie, Certified Child Life Specialist, talks to Eilieen. She is the amazing mom of a determined, fun loving, 4-year-old hero named Brady. Brady was diagnosed with Recessive Dystrophic Epidermolysis Bullosa (RDEB). While he inspires all who meets him, his favorite thing is just being a typical boy and being treated as such. After a move from Texas to Colorado to find the best care and environment for him, life shifted and their family became advocates in the RDEB community. Eileen is on the board of the EB Research Partnership and they have an absolutely star studded (like for real a ton of A-listers) event coming up on November 18th that will be streamed on Amazon.  EB Research - On November 18th, 2020 at 8pm EST, we will be hosting an extraordinary fundraiser with several A-List celebrities, and streamed on Amazon!!! This is an unparalleled  opportunity for others to learn about Brady's condition, and get us closer and closer to our goal for a cure. Learn more here!!   DEBRA is the organization talked about that welcomes donations of supplies etc for children with EB Follow along with Eileen and Brody on Instagram and Facebook. Find more resources, parent stories and support on www.childlifepodcast.com. Child Life On Call | Instagram | Facebook | Twitter

Welcome back to NOCLIP Pocket! We’re cleaning up everything we needed to do before episode 100, and that means it’s time to play Minit, which was initially supposed to be a fun thematic companion piece to go along with A Hat in Time, but ended up stumbling into October a bit. Either way, this is an adventure game that you play in one minute chunks. You spawn in a fixed location, do as much as you can do in sixty seconds and then die, respawning in the same place unless you found another place to spawn. This does produce a bit of an illusion of depth, as things seem more complicated when you can’t think about them for more than a few seconds at a time, but the game’s overall design is actually really impressive and the illusion is about as good as the real thing. Trying to make the most of your time while traversing the map or solving a puzzle is an interesting challenge and makes each subsequent run feel like a practiced routine. When you’re working on something specific, you will know when something goes wrong and how to optimize your movement and that’s a play pattern that very rarely gets emphasized in the normal experience of playing a game. We’re going to be talking about clever level design to account for the consistent time limitation, the use of visuals and sound that call back to an even older era of games than indie games typically do, and, uh, economics? Thank you for joining us this week! Next time we’re getting into the full swing of Halloween and talking about Man of Medan, the first entry in the “Dark Pictures” series from Supermassive, the developers of Until Dawn. That’s a ton of proper nouns all in a row, but the gist is that it’s a horror game in the modern dialogue-driven adventure game style with the twist that it’s designed to be played with multiple players. We will hopefully have that episode up soon-ish so we can squeeze at least one more horror game out of the month, so check back then to find out what that might be!

Today we tackle the hardest topic yet X linked inheritance before tackling X linked dominant in a separate podcast

Discussion of the mode of inheritance and notable example of autosomal recessive conditions

A quick quiz on Autosomal Recessive Conditions

This week we continue our ongoing miniseries Architecture in the Time of Coronavirus with two distinct discussions. The first conversation, with Rachel Minnery, AIA, asks what does it mean to plan in the face of unknowable risk? The second, with Patrick MacLeamy, former CEO of HOK, discusses the history and culture of HOK, the future of design firms in a changing world, and firm strategies during a recessive economy.

On this episode we discuss whether or not college degrees are worth it.

This form is much more severe. Here we will talk about the causes and it’s many effects on the skeletal, blood, nervous, immune and endocrine system.

A mutation that was first discovered in 1999 out Ron Tremper's Tremper Albino project, there has been much debate over what this gene is. Is it Co-Dominant, Incomplete Dominant, Polygenic, Recessive, or does this "gene" really exist? In this episode of the podcast, I had the opportunity to speak with Kevin Baron of Mutant Geckos about his Super Giant projects. Kevin is a relatively new breeder in the hobby, but this hasn't kept him from being super knowledgeable about the genus Eublepharis. Enjoy this awesome free-flowing conversation about his experience breeding. 

AHRI PhD student, Jinyi Chen, studied the inheritance of trifluralin resistance with target site resistance in ryegrass. She found that resistance is single gene recessively inherited. This means that both parents must have a copy of the resistance gene for the progeny to be resistant. Recessive resistance inheritance is rare in the world of herbicide resistant weeds. Nearly all other cases of target site herbicide resistance involve semi-dominance. This could be part of the reason why trifluralin resistance in ryegrass was slower to evolve than other types of herbicide resistance. However, there is always more than one resistance mechanism. Jinyi joined us on the podcast one last time before she left for post-grad work in Canada. Take a listen!

Jori and Dan have a very unique son named Luxton.  He is one of three cases in the world that has autosomal recessive centronuclear myopathy type 5. Luxton however is the only one in the world that has two mutated genes. Autosomal Recessive Centronuclear Myopathy Type 5: The Only One Something Was Wrong Luxton’s doctors knew there was something wrong right off the bat.  However, no one really knew what it was. “He couldn’t breathe on his own, they called a code blue.” Jori recalls.   She continues by saying, “ They had a laundry list of things they thought it could be.  His MRI showed some brain bleeds. They thought he had Gyneschemic brain injuries because he did have a rough delivery so he was restricted in utero.” “It’s Terminal, Whatever he Has” At three weeks old his oxygen dropped to the 20’s and Jori and Dan were unable to find a pulse.  They were admitted for three months on and off and the doctors were still not able to find out what was wrong.  “It’s terminal whatever he has.  So don’t expect him to look at you, don’t expect him to laugh.  He’s never going to play with toys. He’s never going to walk, he;s never going to crawl, he’s never going to sit up, he’s going to be a vegetable.”  Official Diagnosis at 16 Months After 16 long months, they received a test called a microarray.  The test showed small deletion on chromosome two. “Well we got the diagnosis and I remember the lady walking in the room.  She was like “so we found something this is a gene it affects but we have no other records of this being found”  “The other two records that are very similar is both kids are trach vented and doctors said that they don’t have a very good prognosis” I was devastated” Jori mentioned.   “Just be his Mom” In the first couple months of Luxton’s life Jori was struggling, she was feeling sad, guilty, jealous and like she couldn’t do it.  Dan put things in perspective for her by saying “Jori stop listening to the doctors, stop looking at everything they are telling you is wrong and just be his mom.” “I stopped looking at what he’s never going to do and what everyone's labeling my child as and once I stopped doing that,  was able to pay attention to what he can do… and then I started getting joy out of that.” He’s Proving Doctors Wrong “He does things they told us he would never even do..he rolls and now he is lifting his head up off the ground...he does things that other moms don’t get to experience, we just have a very special bond.” said Jori. Dan loves Luxton's happy personality, he said, “I love coming home and seeing him dance around me and get excited.  It’s really wonderful having him be part of our family. He just seems to have this determination to never really give up.”

27 March 2018: Meghan Woody interviews Peter Marinkovich on gene therapy for recessive dystrophic epidermolysis bullosa

11 March 2014: In this Skinpod episode Dr. John McGrath, from King's College London, discusses fibroblast cell therapy for patients with recessive dystrophic epidermolysis bullosa (RDEB).

Are you right or left handed? Yeah that’s gonna be a deal breaker for me. Too common. I like recessive traits Because they MADE it, you know? O, I’m only kidding. It’s just fun to think about... --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/nakedpoetry/message

Commentary by Dr. Valentin Fuster

We're back, bitches.

Storing GIFs in our DNA. Recessive Data INTRO Hello and welcome to Terrifying Robot Dog! I'm Jonathan Stark - and I'm Kelli Shaver - and we are here to talk about how technology is changing the way we interact with the world. This week we talk about storing GIFs in our DNA. Please stay tuned, Terrifying Robot Dog is next... FEATURE Speculative ramblings on the implications of storing data in our DNA with CRISPR. LINKS Scientists Upload A Galloping Horse GIF Into DNA With CRISPR Extinction Events That Almost Wiped Out Humans TITLES WE CONSIDERED Recessive Data Pseudo-Science Looney Bin CLOSING That's our show for this week. I'm Jonathan Stark - and I'm Kelli Shaver - and we hope you join us again next week for Terrifying Robot Dog. Bye! POST-SHOW Would you like to see Kelli and I in your inbox once a week? Get new episodes delivered straight to you with show notes, links to additional content, and more... Plus, you can reply to any message to suggest topics for future episodes. To get the inside track, go to terrifyingrobotdog.com and look for the KEEP ME IN THE LOOP button. That url again is terrifyingrobotdog.com.

Greetings 9Mind Sacred Sisters and others. Peace protection, prosperity and most of all wisdom be upon we all and those we love. Many are unaware that terms or labels like black, white or not names of RACES or TRIBES or KLANS. They are science terms that denote which GROUP you are from based off your GENETICS. White simply means you come from the RECESSIVE geneti group type and BLACK means you come from the DOMINATE genetic group type or class. Now this information is onlyprivy to certain Doctors and Scientist while the vast majority of the BLACK CLASS or type have no idea [ why] we are called Black. I have come to realize that the main WAR that melanin dominate people ie... BLACK PPL have yet to mastr is the WAR of WORDS & DEFINITIONS. As an indigenous people who where forced to learn the language of our conquerors we also where forced to accept the meaning and definitions they taught us in school and gave to us in the dictionary books all written or controlled by them. We must now embar on a reEducation campaign to define their WORDS for OURSELVES. Now what sparked this revelaton was avideo I was listening to by a youtuber named Chrissie and a video she made titled, Colorism:Perception or Reaity and a follow up titled, Are Women Just as Colorist As Men? Left a comment under Chrissie's video agreeing with much she pointed out but DOMINATE (meaning black) GENETIC SURVIVAL is why I created this show and what I dedicate my social media pages toward. Anytime we use these labels black and white we all must began to point out unashamedly what these labels really mean. OUR black, brown and luna children need to hear us teach them the TRUTH about these coded scientific terms which (only) in the US have erroneously been turned into RACES when we know their is NO SUCH thing as a white race or a black race as far as genetics are concerned so these terms must mean something else.

Now I would like to remind you that if you are enjoying the podcast, you can donate through Patreon for as little as one dollar a month. You donation will help to cover the expenses of hosting for the podcast.   Just Visit http://www.hareoftherabbit.com On this weeks episode, we cove the American Sable rabbit, the news, the word Admire and plant of the week: Lettuce, as well as another rabbit folk tale - Rabbit gets his split lip.   I would like to thank you for taking the time to listen to me today. American Sable Rabbit Information and History The American Sable is one of those little-known breeds that is actually very handsome and useful.   Sable rabbits were discovered in chinchilla rabbit litters separately in California and in England, and developed concurrently within their separate breeding lines on both sides of the world.  Recessive genes in the Chinchilla lines produced an entirely new colour, with a body shape that remained identical to the Chinchilla itself. The very first Sable rabbits are believed to have cropped up in the herd of Mr. David Irving, an Englishman who lived near Liverpool.   He had imported some Chinchilla rabbits from France in the mid-1910s.  The Chinchilla breed was itself still showing evidence of its newness in the various sports seen in the early litters. Shaded brown rabbits, as well as martin-patterned sports, could be found in the nestbox now and again.   The sepia-shaded bunnies in Mr. Irving’s nestboxes invariably landed in the stew pot, because he was focused on the Chinchilla color.  But there were other English breeders who were smitten by the cute-as-buttons sports.  They bred these brown rabbits together just to see what would happen.  What happened was, if the genetics were just right, they could produce more of these very attractive rabbits.   Although the color didn’t entirely breed true - it was never the only color in the nestbox - they could still standardize the type and medium sable hue of the rabbits.  Mr. Irving was instrumental in the spread of Sable rabbits, as they were eventually called, throughout Europe.   Now across the pond as they say, for the American Sables in the USA This American rabbit breed was developed independently from the Sable breed known in England in the early 1900’s.   In California in 1924, Mr. Otto Brock of San Gabriel, California, found the first shaded brown rabbits in the nestboxes of his ‘purebred’ Chinchilla rabbits. The rest of the story of American sable rabbits in California reads much as it did with the breeders in England. At first there were three different color variations among the Sables. There was a lighter brown, a medium brown, and one with tan markings. Of these three color phases, the light and medium browns were bred together to arrive a medium color, brown rabbit with darker points and the tan-patterned was developed into a separate breed called the Silver Sable Marten. With the exception of a few things, the American Sable is identical to the Siamese Sable and Sable Marten of England. The American Sable is slightly larger at an average of eight pounds of a senior buck and nine pounds for a senior doe. In England, the sizes run about two pounds smaller. The Siamese Sable is also shown in Light, Medium and Dark while in the United States, only the Medium color phase is recognized by the ARBA, the American Rabbit Breeders Association. In 1929, the American Sable Rabbit Society was formed. They named the new breed the American Sable, and called for medium-colored shading. The American Rabbit Breeders Association (ARBA) recognized the breed in 1931. Included were medium-shaded Sables, and the lighter Siamese Sables.  Tan-patterned (marten) sables were also occurring in the US, however instead of recognizing them under the umbrella of the American Sable, they were called Silver Sable Martens, and these were accepted as a new variety of Silver Marten rabbits. After the great start to a challenging breed, the sables did not fare so well, at least in the United States.  The breed never truly caught the fancy of the rabbit breeding community. Like so many breeds, the American Sable got off to a great start.  However, as more new breeds of rabbits were developed, the Sable fell by the wayside.   By 1976, numbers of the Siamese Sable variety bottomed out. The variety was eliminated. Every year the ARBA has a National Convention where thousands of rabbits are shown from all over the world. All of the recognized breeds are shown as well as breeds that are in the process of trying to be recognized as a breed. When only one American Sable was shown at the Convention, it was a wake-up call that the breed was in danger of disappearing. The lone exhibitor, Al Roerdanz, was determined that the breed was not going to die out. After searching the United States, he was able to obtain seven more American Sables. He then imported a trio of Sables from England to breed to the rabbits he already had. Because of the small gene pool, Roerdanz introduced several other breeds to his existing herd of Sables. He added Californians, Chinchillas, and Sable Silver Martens, among other breeds to bring back his breed. Adding the Californians and Chinchillas was not as strange as you might think. The Sable originated from the Chinchillas and so did the Californian breed. Each breed that was added in to the breed was added for a specific reason.     In 1982, numbers of Sables were so low that Mr. Al Roerdanz of Ohio and a few other breeders had to literally re-build the breed. Through the efforts of Al Roerdanz of Kingsville, Ohio, seven purebred American Sables were located and used to revive the breed and increase numbers of animals.  They also used British imports and the injection of new blood mainly via Sable Silver Martens, Sable Rex, Havanas, Californians, and Standard Chinchilla.I  n 1982 Mr. Roerdanz along with several American Sable fanciers formed the American Sable Rabbit Society, which included 13 charter members. That year the breed reached the required quota of animals shown to retain recognition of breed status in the Standard of Perfection, according to ARBA rules, thus saving the breed from extinction.  At the 1983 ARBA National Convention, breed numbers were sufficient to retain the American Sable rabbit breed in the Sable variety. The American Sable is still rare, however not listed as endangered The American Sable has regular commercial type, but is slightly smaller than other commercial breeds such as the Satin or Californian.   It has commercial body type and is suitable for 4-H meat pen project, if you’d like to try something different from the usual Cal’s and New Zealands.  The fur is a rollback.  The namesake feature of this breed is its lovely sable color.  The back of the rabbit is rich sepia brown, which lightens on the rabbit’s sides and darkens to nearly black on the nose, ears, feet, and tail.  This breed is not very popular, but not in imminent danger of extinction thanks to a community of breeders who call themselves “Sablers.” The American Sable rabbit has a commercial-sized body which weights anywhere from 8-10 lbs., with males usually weighing slightly less than the females. These rabbits have a rounded head with vertical, upright ears. The head is rounded, with ears that are held upright and the topline creates a long curve, from the bottom of the neck to the base of the tail. The American Sable rabbit enjoys gentle petting on its back and between its ears. The American Sable rabbit has soft, fine, dense coat that requires more grooming that the average short-haired rabbit, but less than long-haired rabbit breeds like Angoras. Because their coat is so thick, they will definitely shed more during moulting periods. Owners need to be prepared for regular brushings during these heavy shedding periods, especially if your American Sable is an indoor rabbit. Simply groom your rabbit with a slicker brush outdoors 1-2 times per week as necessary during shedding season, and once every two weeks during off-season times. The American Sable rabbit only comes in one color that is accepted by the ARBA. Their head, feet, ears, back and top of tail are a dark sepia color, while the rest of their coat fades to a lighter tan, like a Siamese cat. The Sable coloration is caused by a gene called “chinchilla light,” symbolized by cchl or cch1.  This gene is incompletely dominant over the two below it (Himalayan and REW.)  When a rabbit has two copies of cchl, it looks so dark brown as to be almost black.  This color is called seal.  A correctly colored sable has one copy of cchl and one copy of a lower C-series allele: Himalayan or REW.   Therefore, breeding two correctly colored sables can result in seal, Himalayan, or ruby-eyed white offspring.   The non-showable colors are useful to a breeding program, however, because breeding a seal to a himie or REW will result in 100% correct sables.  Some breeders have crossed Californians (Himalayan-colored breed) into their American Sables to improve type and add some genetic diversity.  As is the case with any crossbreeding project, you will find some people for and others strongly against this practice. American Sables have soft, fine, dense coat that requires more grooming that the average short-haired rabbit. The head, feet, ears, back, and top of the tail are a dark sepia, while the coat fades to a lighter tan over the rest of the body, similar to the coloring of a Siamese cat. The breed's eyes are usually dark with a ruby hue. The eyes are dark but because of a recessive albino gene, the pupils reflect a ruby reddish glow. Kits are born white, silver, or gray.   This extraordinary breed has brown eyes that will appear red when reflected by light. This rabbit carries an albino gene which causes this red glow and also why some kits are born white. Let’s take a closer peek on how the breeders achieved this kind of coloration for the sables. A gene that is called ‘chinchilla light’, which is symbolized by cchl or cch1, causes the coloration of American Sable. This gene, being incompletely dominant over the Himalayan and REW gene, which are below the chinchilla light, causes the darkish brown coloring of the rabbit. It’s so dark that it’s almost black already. This color that stands between dark brown and black is called seal. Ideally, an American Sable with a correct coloring has one copy of cchl and one of either the Himalayan and REW. This also means that for a successful breeding of two correctly colored American Sables, a breeder can achieve a seal, Himalayan or ruby-eyed white offspring A perfectly colored Sable is difficult to produce. Any blotchiness of shading –which can be easily caused by sunburn or molt — is a fault.  The eyes must possess a ruby glow to avoid disqualification on the show table.  A white toenail is also cause for disqualification. There are 4 color variations that possibly will be in an American Sable nest box. 1) Seal which has 2 copies of the c(chl) gene giving it a dark coloration - almost black color. 2) Sable (sometimes referred to as Siamese), this is the accepted show color. 3) Pointed white - Californian or Himi marked - has 2 copies of the ch gene or a ch gene and a c gene. 4) Albino (REW). Breeding a Seal to a Pointed White or an Albino will produce a litter of all show colored Sable. Some kits born white can turn to the gray color which usually occurs 3 days after birth. Those born with the silver-grayish coat are those used for showing. The fur is silky and fine but has coarser guard hairs. The Sable will change colors for many weeks after birth and will begin to molt at approximately 4 months of age. Breeders prefer to keep their Sables in cooler environments and shaded as the heat and sun can cause the sable coloring to lighten. The Standard of Perfection describes the gradations of shading without actually specifying the intensity of hue, other than the "rich sepia brown on the ears, face, back, legs, and upper side of the tail." Weights: Senior Bucks: 7-9 lb: 3.2 – 4.5kg Senior Does: 8-10 lb The UK’s national organization, the British Rabbit Council (BRC), lists their breeds as the Marten Sable and the Siamese Sable. Weights for both varieties: 5-7 lb (2.26 - 3.17 kg) In the UK, both Marten Sables and Siamese Sables come in Light, Medium and Dark shading, the main differences being "width of saddle, in tone and intensity of sepia colours." Judges are instructed to "award the appropriate number of points for shadings and penalise those exhibits which lack shadings, i.e. are self coloured" (BRC-Marten Sables). Care Requirements An American Sable’s diet is like any other rabbits in that it should consist mainly of hay (70 percent), while the rest should be a healthy mix of pellets, leafy greens, fruits, and vegetables. Limit the amount of fruits that are high in sugar. Make sure to stay clear of iceberg lettuce, as it contains too much water and too little fiber to count as a good meal. Fresh pellets should also be made available daily – choose a pellet high in fiber and avoid mixes that include other foods like corn, seeds, or dried fruit. Fresh foods are also an important part of your rabbit’s diet. Dark, leafy greens like kale, romaine lettuce, spring greens, and some spinach should make up approximately 75% of the fresh food given to your rabbit daily, with vegetables like broccoli, cauliflower, bell pepper, and summer squash making up the other 25%. Fruits and starchy vegetables should be limited in the diet, but make great treats! Make sure that all fresh foods are washed thoroughly, and uneaten fresh foods should be removed at the end of the day. Fresh water should always be available, either from a sipper bottle or in a stable water bowl. Do not feed your rabbit yard clippings as grass is usually treated with fertilizer, insecticides, pesticides, and other chemicals that can harm your rabbit. Always research, and/or ask your veterinarian about your rabbit’s diet. When it comes to enclosures, this particular rabbit breed can live in either an indoor or outdoor enclosure, so long as they are not exposed to extreme weather temperatures or conditions. Outdoor enclosures need to be raised off the ground to protect them from predators such as racoons, coyotes, wolves, and should be made of wood or metal. A good rule is one square foot per pound of rabbit, so a nine pound rabbit will be comfortable in a hutch that’s 3ft x 3ft – double it if you have two bunnies. It should also be high enough for him to stand up in. The hutch should be placed in a sheltered area and it must be completely weatherproof. The top should be covered from the elements and depending on where you live, it may need to have 3/4 sides covered to protect them from extreme snow and allow air circulation. Indoor enclosures should be made of wire and have a metal or plastic bottom to allow bedding to be laid (wire bottoms are not comfortable for long periods of time and are taxing on your rabbit’s feet). The bedding needs to be spot-cleaned every day and completely replaced at the end of every week. Health issues? American Sables are energetic rabbits who will happily run round inside or out.  All rabbits are susceptible to developing overgrown teeth – the American Sable is no different. This problem is caused by a diet that lacks a proper balance of hay, which is used to slowly grind down teeth naturally. Overgrown teeth can grow into a rabbit’s jaw and face. In order to prevent this condition, make sure to check your rabbit’s mouth regularly for overgrown teeth and always make sure they have a proper diet consisting of mostly hay. Ears should also be checked periodically for ear mites, especially for rabbits who spend most of their time outside. Like most rabbit breeds, the Sable can suffer with a number of health conditions that any responsible owner should look out for and prevent if possible. No rabbit should be housed in quarters with a mesh floors unless they are provided with a resting board. The mesh can wear away the protective fur on the ends of the feet –the hocks – which will in turn expose the delicate skin underneath. This can become raw and broken and causes great discomfort and even infection. The rabbit must be monitored for symptoms of flystrike – particularly in the warmer months. He shouldn’t be allowed to become overweight and unable to groom himself as this will make him susceptible to flystrike. Temperament/Behavior The American Sable rabbit enjoys gentle petting on its back and between its ears.  In order for your rabbit’s personality to flourish, American Sables need to have plenty of time outside of their enclosures.   This attractive rabbit has an equally attractive personality: friendly, mellow, and calm.  American Sables are energetic rabbits who will happily run round inside or out, and once they’ve been tuckered out, will enjoy the company of their human.  They make great pets for singles, couples or families with children, and can live in apartments or homes with or without backyards.  They also can make wonderful companions for seniors.  Most Sable rabbits are placid and friendly (although it must me noted there can be aggressive animals in any breed) and make great pets. They seem to enjoy the company of other pets and will relish having a rabbit friend to lark about with. They also thoroughly enjoy the company of humans and will enjoy playtime immensely. The American Sable enjoys the company of other rabbits. It is generally docile, spending most of the day sleeping. Typically they enjoy the companionship of their owner, but on their own terms. When distressed, the American Sable will make a grunting noise or will, like many other breeds, thump its back foot on the ground in an attempt to scare whatever it is that is bothering them. Rabbits tend to be a little harder to litter train than other animals such as cats and dogs, but it is possible.  Unlike cats, rabbits may need to have a few litter boxes spread out across the house. Rabbits have unique and dynamic personalities and can form close, loving bonds with their owners. Many can be trained to use a litterbox, come when called, and may even enjoy learning tricks. Coupled with the fact that they’re quiet, require relatively little space, and are very low odor, it’s not hard to see why rabbits have become the third most popular pet in the United States and Great Britain. Rabbits May be a poor choice as a pet for young children. They may be soft and cute, but rabbits are easily stressed and frightened around loud noises and activity. Many rabbits do not enjoy being held or cuddled and may bite or kick to get away, and rabbits or the handler can easily be seriously injured in such a struggle. The American Sable rabbit is a meat rabbit breed. They have good body size and very suitable for commercial meat production. With proper care these small animals make excellent and adorable pets. The British Sable Rabbit Club was established in November, 1927, and the British Fur Rabbit Society accepted Sables in both Marten and Siamese varieties. The British Rabbit Council (BRC) is a British showing organization for rabbit breeders. Originally founded as The Beveren Club in 1918, its name first changed to British Fur Rabbit Society and finally to The British Rabbit Society. Today, the BRC among other things investigates rabbit diseases, maintains a catalog of rabbit breeds, and sets rules for about 1,000 rabbit shows annually in the UK. Owners of house rabbits are also encouraged to join the organization to learn how to care optimally for their pets.  The American Sable Rabbit Association was founded in 1929 and the breed was accepted by the American Rabbit Breeder’s Association (ARBA) two years later in 1931.  The American Sable is a rabbit breed recognized by the American Rabbit Breeders Association (ARBA).  This is a tricky one for ARBA royalty participants, who must remember that although a fairly large rabbit, it is actually a four-class breed.  From what I could tell, the Royalty contest is for youth to compete on multiple levels.   The darkest period in the breed’s history was in the early eighties, when it would have probably been dropped from the ARBA standard if not for the dedicated effort of an Ohio breeder, Al Roerdanz.  Ohio remains one of the strongholds of the American Sable today.  According to the American Rabbit Breeders Association (ARBA) report in 2005, there are 500 to 800 American Sables in the United States. The American Rabbit Breeders Association (ARBA) maintains the breed standard for all of the recognized rabbit and cavy breeds for it's international membership.  Recognized breeds are eligible for Registration and Grand Champion recognition. The AMERICAN RABBIT BREEDERS ASSOCIATION, INC. is an organization dedicated to the promotion, development, and improvement of the domestic rabbit and cavy.  With over 30,000 members throughout the United States, Canada, and abroad, its members range from the pet owner with one rabbit or cavy to the breeder or commercial rabbit raiser with several hundred animals.  Each aspect of the rabbit and cavy industry, whether it be for fancy, as a pet, or for commercial value, is encouraged by the organization. Once bred for its fur and meat, the American Sable has made a tremendous comeback over the last 30 years. This is due to determined breeders who refused to let this breed die out, so that future generations can still appreciate the American Sable not only in the show ring but as a loving companion. The American Sable is 1 of 16 breeds that are considered endangered in the United States.  While the American Sable is still around today, it is on the rare rabbit list at number 10. It is a strikingly beautiful rabbit and it would be a real loss to have this breed fade out. If you are interested in helping to save this beautiful breed, visit a rabbit show to learn more about them. http://rabbitbreeders.us/american-sable-rabbits http://www.petguide.com/breeds/rabbit/american-sable-rabbit/ https://en.wikipedia.org/wiki/American_Sable_rabbit http://www.raising-rabbits.com/american-sable-rabbit.html http://www.pets4homes.co.uk/breeds/rabbits/sable/ https://rightpet.com/breed-species/small-exotic-mammal/rabbits/american-sable-rabbit https://mysmelly.com/content/small_animals/american-sable.htm http://www.albc-usa.org/cpl/americansable.html http://mosaicrabbitry.weebly.com/american-sable.html http://knowledgebase.lookseek.com/American-Sable-Rabbit.html http://www.hotots-satins.com/as.html http://www.second-opinion-doc.com/the-american-sable-rabbit.html http://www.roysfarm.com/american-sable-rabbit/ http://www.second-opinion-doc.com/rabbit-breed-profile-american-sable.html http://www.adoptarabbit.com/breeds/american-sable/ How Rabbit Came by His Split Lip http://umaine.edu/folklife/publications/northeast-folklore-2/passamaquoddy-tales/#Rabbit Note: All of the following tales were found among the E. Tappan Adney Manuscripts in the Peabody Museum, Salem, Massachusetts. All of them were collected by Adney from Governor William Neptune of Pleasant Point Reservation, Maine, in the early 1940’s. Some of the manuscripts were in hurried pencil script, clearly Adney’s own field notes; others were in typescript but appear to be no more than typed-out field notes; still others had obviously been worked over. One Sunday Rabbit start cruisin’ around. By and by see wigwam. It was Kingfisher, and he said, “Come in.” They talk and talk; by and by dinner time. Kingfisher went up brook and dive down [and] ketch big fish. Rabbit say, “Nice dinner.” [That] afternoon, Rabbit say to Kingfisher, “Come see me.” One Sunday Kingfisher come up and find [Rabbit’s] wigwam. Rabbit say, “Come in.” They talked a while. By and by, [Rabbit get] all rigged. [8] A spruce tree lean out over stream. It pretty near dinner time and he walk up tree and, lookin down, he said he’d do same as Kingfisher. By and By Rabbit dove down [and] struck [a] rock and split his lip. Kingfisher heard him call for help. He nearly drown. That’s how Rabbit got split lip. This old Indian story. News! New Orleans Fire Department Captain Ross Hennessey will receive the House Rabbit Society's inaugural Amy Espie Hero Award Sunday (March 19) after he rescued a lop rabbit named Pierre from a house fire in New Orleans last November. Wilborn P. Nobles III, NOLA.com | The Times-Picayune New Orleans Fire Department Captain Ross Hennessey was amazed when a lop rabbit named Pierre regained consciousness moments after he rescued the bunny from an Uptown house fire last year. The firefighter said Pierre survived because he was on the floor, and "the difference between the floor and five feet above the floor might be 300 degrees." Hennessey's actions will be honored Sunday (March 19) as the House Rabbit Society plans to give Hennessey its first-ever Amy Espie Hero Award. The nonprofit's award commemorates those who do something extraordinary to help rabbits. The organization's executive director, Anne Martin, said Wednesday that the captain's actions exemplified their award. The incident occurred on Nov. 28, 2016. Neighbors noticed a fire at the home on Calhoun Street, Hennessey said Thursday. Authorities arrived to find the top half of the house ablaze, and the neighbors told firefighters a rabbit was inside. Firefighters extinguished the flames and went through the house before they a saw cage in the corner. He went over to the rabbit and gave him a nudge when the animal suddenly moved. That's when Hennessey said "Damn, I think this rabbit's still alive." The SPCA gave the department an animal resuscitation kit several years ago that authorities had yet to use, Hennessey said. He decided to put it to use on Pierre after he brought the rabbit outside. Hennessey said Pierre "popped back up" moments after the kit delivered oxygen to the rabbit. A Tulane student who owned the rabbit managed to escape earlier and was not on scene when Pierre was rescued, he said. http://www.masslive.com/news/index.ssf/2017/03/la_fire_captain_rescues_bunny.html FARMINGTON — The city of Farmington is considering allowing residents to keep up to six chickens or rabbits on residential property. The City Council will discuss changing the code to allow chickens or rabbits during its 6 p.m. March 28 meeting at 800 Municipal Drive in Farmington. City Planner Cindy Lopez explained the number of animals was calculated using the current codes for dogs and cats, and the size of the smallest residential lots in Farmington. She said the code allows for four dogs or four cats or a combination of cats and dogs adding up to four. Currently, any city resident who wants to keep chickens or rabbits has to apply for a special-use permit. The city charges an $80 fee to process those permits and requires the applicant to go to a title company to acquire a list of nearby properties so the city can ask the neighbors for comments. That can cost residents hundreds of dollars, Lopez said during a Planning and Zoning Commission meeting Thursday. Many people who have applied for the special-use permits already have acquired chickens or rabbits without realizing it is against code. http://www.daily-times.com/story/news/local/farmington/2017/03/17/city-may-let-residents-keep-chickens-rabbits/99276864/ County ends slaughter ban in code update By Samantha Kimmey 03/16/2017 The Board of Supervisors unanimously lifted a 14-year ban on commercial animal slaughter and expanded size limits for second units on residential properties in Marin. The changes to the development code were among a suite of others  approved on Tuesday. Much of the three-hour hearing that preceded the supervisors’ vote, which followed a series of planning commission workshops and a planning commission hearing, was consumed by public comment on the animal slaughter proposal. Numerous people concerned about animal rights, the environment and property values pled with supervisors to keep the prohibition on commercial slaughter, which has been in place since 2003. But ranchers and agriculture advocates also came out to support the change, arguing that local slaughter is both more humane and in line with consumer demand that all elements of food production be as local as possible. Supervisors largely approved the planning commission versions of the code updates, which will not affect the coastal zone at this time. But they made a few notable amendments. For instance, they expanded allowable rabbit slaughter from only mobile facilities to both mobile and small-scale facilities, despite public outcry from a group called SaveABunny, which stressed that rabbits are companions and pets. A Mill Valley real estate agent with Sotheby’s International Realty, Cindy Shelton, said that lifting the ban would result in a “real estate nightmare” because it would have to be disclosed to buyers. Rabbit advocates also spoke, urging supervisors to prohibit their slaughter under the logic that they are considered companions and pets. The executive director of SaveABunny, Marcy Schaaf, expressed frustration that her group was “lumped” with other activists, like vegans. Numerous ranchers and agriculture advocates stressed the importance of allowing commercial slaughter. “It’s really important to have that option on the table,” said Loren Poncia, who ranches in Tomales. Kelli Dunaj, who has run a ranch in Marshall since 2013, said it was “unfair and hypocritical” to bring up the “bogeyman like property values” to try to stop the proposal. Landscapes, she went on, are “not just eye candy,” but working agricultural fields. Rebecca Burgess, executive director of a group of farmers and artisans called Fibershed, said her group’s mission of sourcing local fiber like wool also means supporting growing animals like sheep for meat. “To develop a sustainable fiber system, we need a sustaining food system,” she said. When public comment ended and the meeting turned back over to supervisors, some of their amendments, like allowing both accessory dwelling units and junior units, were easily agreed on. But they seemed on the fence about how to handle rabbit slaughter. Rabbit advocates had argued that there was little demand for rabbit meat, pointing to Whole Foods, which stopped selling it in early 2016. But when the board asked David Lewis of the University of California Cooperative Extension, he estimated that Marin had between five to 10 rabbit meat producers and that “demand is higher” than supply. Supervisor Damon Connelly indicated that he would support banning rabbit slaughter. Supervisor Katie Rice, who said she did not eat rabbit meat, said she believed that supporting agriculture meant supporting a “farm to table” system. She also said that if supervisors truly believe that slaughter is more humane when done more locally, it seemed improper to force rabbit meat producers to send their animals for slaughter elsewhere. https://www.ptreyeslight.com/article/county-ends-slaughter-ban-code-update The European Parliament is urging the European Commission to adopt measures that would make life better for more than 340 million rabbits raised for food every year in Europe. The parliament voted overwhelmingly Tuesday to recommend outlawing battery cages for rabbits — tiny enclosures with wire-mesh floors no bigger than ordinary letter-size pieces of paper. Animal welfare groups say rabbits are extremely sensitive animals who suffer terribly in such small spaces, with such problems as open, infected wounds, respiratory disease and even cannibalism as the frustrated animals turn against one another. Humane regulations already exist for pigs, cattle and chickens raised for food, but not rabbits. European Consumer Affairs Commissioner Vera Jourova said such standards for rabbits should not be an EU-wide concern but one for individual states. http://www.voanews.com/a/european-parliament-calls-humane-treatment-rabbits-raised-food/3766462.html INFORMATION is being sought after the theft of three pet rabbits in Tadley. On March 12, between 11am-2pm, thieves entered the front garden of the property in Swains Close and stole three rabbits from their hutches. One of the rabbits is described as large, and beige in colour. The other is a motley grey coloured lion head rabbit and the last one is also a lion head rabbit, which is descried as black in colour with very long hair. If you have seen the rabbits, or have any information, then you can get in contact with the police on 101 with the reference number 44170093121. http://www.basingstokegazette.co.uk/news/15151928.Information_appeal_after_rabbits_stolen_in_Tadley/ Japan loves its different types of bread. Melon bread, pork buns, and several other types of the delicious baked goods are well-loved in the country, as is “usagi pan,” or rabbit bread. Bakers have long created rabbit-shaped bread for some time, but there’s a new version of the rabbit-related bread in town. It can be found at a Tokyo bakery, and it’s an entire loaf that’s shaped like a bunny. That means when you slice it into individual pieces of bread; you get the perfect bunny shaped bread for yummy sandwiches! Just make sure there’s a lot of lettuce on it, for bunnies! The bakery itself is named Lepus as a reference to the rabbit constellation, which is a clever take. The bakery’s rabbit bread loaves are absolutely adorable, and practically begging you to make some particularly adorable creations with. The bakery creates about 24-32 bunny loaves each day, but now Bakery Usagi-za Lepus is seeing a surge in customers wanting the bunny loaves. That means the bakery is probably working overtime to make sure you all get the bunny bread you want and deserve! https://www.geek.com/culture/this-bunny-shaped-bread-in-japan-looks-delicious-and-cute-1692050/  A decades-old Main Line tree stump carved into a family of rabbits has been taken down. But don't worry,  a new improved version will take its place in about a month or so. Last week, crews removed the tree that sat on the former Haas mansion property at County Line at Spring Mill roads in Villanova, after it was found to be deteriorating, Main Line Media News reported. The local landmark, carved by sculptor Marty Long, was known for its festive seasonal decorations. The seven carved bunnies, which represented the members of the Haas family, were often decked out in sporty sunglasses or holding Easter baskets with colorful eggs. The Haas surname derives from the Dutch or German word for hare, according to Ancestry.com. After the Haas parents died, the family donated the 42-acre property to the Natural Lands Trust. The grounds are being converted to public open space and are expected to be completed in about a year, the paper reported. Natural Lands Trust, which now owns the Stoneleigh estate property where the rabbits stood, have commissioned Long to make a new sculpture, the paper reported. The wooden rabbits have been removed and inspected, and if possible the group plans to put some of them on display inside the Stoneleigh mansion, Kirsten Werner, director of communications with the Natural Lands Trust, told the paper. http://www.philly.com/philly/blogs/real-time/Villanova-bunny-tree-removed-Haas-mansion-Stoneleigh.html A California couple who hold the Guinness world record for most bunny-related items now have so much rabbit stuff, they're packing up their floppy-hoppy collection and moving to to a bigger house. Candace Frazee and her husband Steve Lubanski run The Bunny Museum out of their home in Pasadena, Calif., where they house more than 33,000 rabbit-related knick-knacks, as well as six actual rabbits and some cats. Now the self-described "hoppiest place on Earth" is moving to a bigger location in nearby Altadena, set to open with a "grand hoppenin'" on March 20. http://www.cbc.ca/radio/asithappens/as-it-happens-monday-edition-1.4011751/bunny-museum-owners-have-so-much-stuff-they-re-hopping-to-a-bigger-space-1.4011761 A series of rabbit holes in an England farmer's field led to a mysterious underground cave, believed to be centuries old. Historic England described the Caynton Caves in Shropshire as a "grotto" that likely dated back to the late 18th or early 19th century and included "neo-Norman decoration to bays between columns, one neo-Norman doorway with beak-heads and roll moulding; decorative quatrefoils and designs abound." http://www.upi.com/Odd_News/2017/03/09/Rabbit-hole-in-England-farmers-field-leads-to-700-year-old-caves/6411489071679/  You may have heard of cat yoga or dog yoga, but now a Vancouver university is hosting bunny yoga.  Rabbits were recently added to some yoga classes at Simon Fraser University’s Burnaby campus. The idea was to help the participants relax and raise money for the Small Animal Rescue Society of B.C. The bunnies roamed free on the yoga mats as participants went through poses during hour-long classes. Participants were allowed to pet or hold the bunnies during the class. The yoga bunnies are available for adoption. http://www.ctvnews.ca/lifestyle/downward-rabbit-bunny-yoga-lands-at-b-c-campus-1.3304440

The apple doesn’t fall far from the tree. Like father, like son. A chip off the old block. You can usually tell how common a phenomenon is by how many idioms describe it. Everyone has seen how kids take on the tendencies, habits, perspectives, and beliefs of their parents. They don’t have to try to. It just happens. So is it a good thing if someone is a “chip off the old block”? That depends. Good things and bad things get passed down. This very real part of family life is addressed directly in the Bible. It is a tragedy when children are affected by the sins of their parents. But he has provided a way to break that from being passed down through the generations. Through Jesus, what once were dominant family traits can become RECESSIVE TRAITS. And that shift in family DNA can happen with you!

Epidermolysis Bullosa is a rare genetic skin condition-not only it's rare so people in general are not aware of it, the way it manifests itself and how it's inherited is very confusing. In this Podcast I will attempt at explaining EB in the most layman's terms. I did the research for this particular podcast a year ago and published as a blog for reference, that blog is here - >http://blog.silviaskingdom.com/?p=1137 Thank you for listening! Silvia

Veterinary Pathology podcast editor Leah Schutt discusses the the article, "Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency" with Dr. Mauldin and Dr. Casal, two of the authors of the study. To view this article, click here.

Hosts: Vincent Racaniello and Dickson Despommier Vincent and Dickson explain the genetic and molecular basis of drug resistance in Schistosoma mansonii. Links for this episode: Basis of resistance to oxamniquine (Science) Oxamniquine (Wikipedia) Letters read on TWiP 67 Contact Send your questions and comments (email or mp3 file) to twip@twiv.tv Subscribe Subscribe to TWiP (free) in iTunes, by the RSS feed or by email  

Join us this Sunday for an in depth conversation about hidden recessive genes and how they can affect your Leopard Gecko breeding efforts. I will be joined by Marcia MC Guiness, John Scarbrough and Matt Baronak. Genetic purity is a concern to most serious leopard gecko breeders today. This episode is designed to help the beginner acheive a better grasp of genetics in order to better these wonderful lines of geckos. Dey aint tainted...dey bootiful! (Inside joke :-)

Background: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarge the spectrum of SACS mutations outside Quebec, to establish the pathogenicity of novel variants, and to expand the clinical and imaging phenotype. Methods: Sequencing of SACS in 22 patients with unexplained early-onset ataxia, assessment of novel SACS variants in 3.500 European control chromosomes and extensive phenotypic investigations of all SACS carriers. Results: We identified 11 index patients harbouring 17 novel SACS variants. 9/11 patients harboured two variants of at least probable pathogenicity which were not observed in controls and, in case of missense mutations, were located in highly conserved domains. These 9 patients accounted for at least 11% (9/83) in our series of unexplained early onset ataxia subjects. While most patients (7/9) showed the classical ARSACS triad, the presenting phenotype reached from pure neuropathy (leading to the initial diagnosis of Charcot-Marie-Tooth disease) in one subject to the absence of any signs of neuropathy in another. In contrast to its name ``spastic ataxia{''

Vincent, Alan, and Matt discuss herpes simplex encephalitis in children with innate immune deficiency, and the local response to microneedle-based influenza skin immunization. Links for this episode: Herpes encephalitis in children with TRIF deficiency (J Clin Inv) Toll-like receptor and cytosolic pattern recognition receptors Skin responses to influenza microneedle vaccine (mBio) Microneedles Fluzone intradermal influenza vaccine QDot nanocrystal technology TWiV on Facebook Letters read on TWiV 175 Weekly Science Picks Matt - Phage and the Origins of Molecular BiologyAlan - Digital Imagine InstituteVincent - iPad apps Goodreader and Notability Listener Pick of the Week Jane -Smoking Ears and Screaming Teeth by Trevor Norton

Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD) who harbor a novel mutation in LHX3. Methods: Two female siblings from related parents were examined. Both patients had neonatal complications. The index patient had CPHD featuring deficiencies of GH, LH, FSH, PRL, and TSH, with later onset of ACTH deficiency. She also had a hypoplastic anterior pituitary, respiratory distress, hearing impairment, and limited neck rotation. The LHX3 gene was sequenced and the biochemical properties of the predicted altered proteins were characterized. Results: A novel homozygous mutation predicted to change amino acid 194 from threonine to arginine (T194R) was detected in both patients. This amino acid is conserved in the DNA-binding homeodomain. Computer modeling predicted that the T194R change would alter the homeodomain structure. The T194R protein did not bind tested LHX3 DNA recognition sites and did not activate the a-glycoprotein and PRL target genes. Conclusion: The T194R mutation affects a critical residue in the LHX3 protein. This study extends our understanding of the phenotypic features, molecular mechanism, and developmental course associated with mutations in the LHX3 gene. copyright (C) 2012 S. Karger AG, Basel

Sun, 13 Nov 2011 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/16690/ https://edoc.ub.uni-muenchen.de/16690/1/Klein_Pontus.pdf Klein, Pontus ddc:570, ddc:500, Fakultä

The story of Mendel who in the 1850's observed hereditary patterns in plants such as the pea.

Transcript -- The story of Mendel who in the 1850's observed hereditary patterns in plants such as the pea.

The story of Mendel who in the 1850's observed hereditary patterns in plants such as the pea.

Transcript -- The story of Mendel who in the 1850's observed hereditary patterns in plants such as the pea.

An Interview with Monique Ryan, M Med, BS, FRACP and Robert Ouvrier, MD, BS, BSc, coauthors of Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve 2007;36:136-143. Interviewed by Ted Burns.

An Interview with Monique Ryan, M Med, BS, FRACP and Robert Ouvrier, MD, BS, BSc, coauthors of Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve 2007;36:136-143. Interviewed by Ted Burns.

Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocorticoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provdes evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families.