Podcasts about tbr1

first pregnancy at 38 no amniotic fluid at 29 weeks sent straight to hospital 3 weeks on bed rest and had a C section at 32 weeks. He was 3 lbs 1 oz and stayed in NICU for 4 weeks.  He fell behind in all milestones and didn't like to eat. 18 months I knew something was wrong and started looking for help. I found an OT that got me Regional Center help. This is our state's program.  at 3 he still wasn't saying any words. so I started searching for speech therapist that could help. We ended up in Connecticut.  forward to when he was 8 and we were able to get a genetic test and he was diagnosed with TBR1 a rare genetic disorder with 190 kids in the world with it. He is one in 190.  I am now helping moms with complex kids take the steps they need to get help for them with early intervention. I am  a mom of a complex kid. I have been my son's best advocate and have learned through the years what it takes to get the best care for my child.  I am  the Founder of Collective Wisdom for Complex Kids, a support group for mothers with children with disabilities.  I have a passion for helping families re-evaluate and prioritize their dynamics, along with guiding them from confusion to clarity while raising complex children.  FIND HER HERE: https://www.facebook.com/wisdom4complexkids https://www.instagram.com/wisdom4complexkids/ https://www.linkedin.com/in/michellechoairy/

In this episode of the Epigenetics Podcast, we talked with Tanja Vogel from the University Clinics Freiburg about her work on epigenetic modifications in stem cells during central nervous system development. During our discussion, Dr. Vogel shared that she and her team have investigated H3K79 methylation and its functional significance, which remains a topic of debate in the scientific community. They've also investigated the role of DOT1L in neural development and its implications for neuronal networks, as disrupting DOT1L can lead to conditions such as epilepsy and schizophrenia. They explored the function of the SOX2 enhancer in the presence or absence of DOT1L enzymatic inhibition. The conversation then shifts to FoxG1, a vital player in forebrain development. The team uncovered its role in chromatin accessibility and its connection to microRNA processing. Their study, utilizing ChIP-Seq, reveals FoxG1's interactions with enhancer regions and other transcription factors, like NeuroD1.   ### References Britanova, O., de Juan Romero, C., Cheung, A., Kwan, K. Y., Schwark, M., Gyorgy, A., Vogel, T., Akopov, S., Mitkovski, M., Agoston, D., Sestan, N., Molnár, Z., & Tarabykin, V. (2008). Satb2 is a postmitotic determinant for upper-layer neuron specification in the neocortex. Neuron, 57(3), 378–392. https://doi.org/10.1016/j.neuron.2007.12.028 Büttner, N., Johnsen, S. A., Kügler, S., & Vogel, T. (2010). Af9/Mllt3 interferes with Tbr1 expression through epigenetic modification of histone H3K79 during development of the cerebral cortex. Proceedings of the National Academy of Sciences of the United States of America, 107(15), 7042–7047. https://doi.org/10.1073/pnas.0912041107 Franz, H., Villarreal, A., Heidrich, S., Videm, P., Kilpert, F., Mestres, I., Calegari, F., Backofen, R., Manke, T., & Vogel, T. (2019). DOT1L promotes progenitor proliferation and primes neuronal layer identity in the developing cerebral cortex. Nucleic acids research, 47(1), 168–183. https://doi.org/10.1093/nar/gky953 Ferrari, F., Arrigoni, L., Franz, H., Izzo, A., Butenko, L., Trompouki, E., Vogel, T., & Manke, T. (2020). DOT1L-mediated murine neuronal differentiation associates with H3K79me2 accumulation and preserves SOX2-enhancer accessibility. Nature communications, 11(1), 5200. https://doi.org/10.1038/s41467-020-19001-7 Akol, I., Izzo, A., Gather, F., Strack, S., Heidrich, S., Ó hAilín, D., Villarreal, A., Hacker, C., Rauleac, T., Bella, C., Fischer, A., Manke, T., & Vogel, T. (2023). Multimodal epigenetic changes and altered NEUROD1 chromatin binding in the mouse hippocampus underlie FOXG1 syndrome. Proceedings of the National Academy of Sciences of the United States of America, 120(2), e2122467120. https://doi.org/10.1073/pnas.2122467120   Related Episodes Molecular Mechanisms of Chromatin Modifying Enzymes (Karim-Jean Armache)   Contact Epigenetics Podcast on Twitter Epigenetics Podcast on Instagram Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Active Motif on Twitter Active Motif on LinkedIn Email: podcast@activemotif.com

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.07.14.548970v1?rss=1 Authors: Hsu, T.-T., Wang, C.-Y., Hsueh, Y.-P. Abstract: Autism spectrum disorders (ASD) are recognized as neural disconnectivity syndromes. Here, we establish a whole-brain immunostaining and quantification platform to investigate structural and functional connectivity in a Tbr1+/- autism mouse model, which shares a defect in the anterior commissure that is evolutionarily conserved with human patients. Since the basolateral amygdala (BLA) is particularly susceptible to Tbr1 haploinsufficiency and it projects to the contralateral brain hemisphere via the anterior commissure, we express a channelrhodopsin variant oChIEF fused with Citrine at the BLA to outline axonal projections of BLA neurons and to activate the BLA under blue light theta-burst stimulation (TBS). Next, we evaluate C-FOS expression to represent neural activity. We show that Tbr1haploinsufficiency almost completely disrupts contralateral BLA axonal projections and results in ipsilateral mistargeting, thereby globally altering BLA functional connectivity. Based on correlated C-FOS expression among brain regions, we further report that Tbr1 deficiency severely disrupts whole-brain synchronization in the absence of salient stimulation. Tbr1+/- and wild-type mice exhibit opposing responses to TBS-induced amygdalar activation, with it reducing synchronization in wild-type mice but enhancing it in Tbr1+/- mice. Whole-brain modular organization and inter-module connectivity are also affected by Tbr1 deficiency and amygdalar activation. In fact, the synchronization and intra- and inter-modular connectivities of TBS-treated Tbr1+/- mice are more comparable to those of non-treated wild-type mice, suggesting a potential ameliorating effect of amygdalar stimulation on brain function. Moreover, Tbr1+/- mice exhibit attenuated connectivity between the amygdala and default mode network, a subnetwork highly relevant to social behaviors, strengthening the link between the impaired connectivity and social behavior deficits displayed by Tbr1+/-mice. Our high-resolution analytical platform reveals the inter- and intra-hemispheric connectopathies arising from an ASD condition and emphasizes the defective synchronization at a whole-brain scale caused by Tbr1 deficiency. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.07.11.548571v1?rss=1 Authors: Bertucci, T., Bowles, K. R., Lotz, S., Qi, L., Stevens, K., Goderie, S. K., Borden, S., Oja, L., Lane, K., Lotz, R., Lotz, H., Chowdhury, R., Joy, S., Arduini, B. L., Butler, D. C., Miller, M., Baron, H., Sandhof, C. A., Silva, M. C., Haggarty, S. J., Karch, C. M., Geschwind, D. H., Goate, A. M., Temple, S. Abstract: Cerebral cortical-enriched organoids derived from human pluripotent stem cells (hPSCs) are valuable models for studying neurodevelopment, disease mechanisms, and therapeutic development. However, recognized limitations include the high variability of organoids across hPSC donor lines and experimental replicates. We report a 96-slitwell method for efficient, scalable, reproducible cortical organoid production. When hPSCs were cultured with controlled-release FGF2 and an SB431542 concentration appropriate for their TGFBR1/ALK5 expression level, organoid cortical patterning and reproducibility were significantly improved. Well-patterned organoids included 16 neuronal and glial subtypes by single cell RNA sequencing (scRNA-seq), frequent neural progenitor rosettes and robust BCL11B+ and TBR1+ deep layer cortical neurons at 2 months by immunohistochemistry. In contrast, poorly-patterned organoids contain mesendoderm-related cells, identifiable by negative QC markers including COL1A2. Using this improved protocol, we demonstrate increased sensitivity to study the impact of different MAPT mutations from patients with frontotemporal dementia (FTD), revealing early changes in key metabolic pathways. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.02.06.527286v1?rss=1 Authors: Li, H., Duque, A., Rakic, P. Abstract: Understanding the claustrum functions has recently progressed thanks to new anatomical and behavioral studies in rodents, which suggest that it plays an important role in attention, salience detection, slow-wave generation, and neocortical network synchronization. Nevertheless, knowledge about the origin and development of the claustrum, especially in primates, is still limited. Here, we show that neurons of rhesus macaque claustrum primordium are generated between embryonic day E48 and E55 and express some neocortical molecular markers, such as NR4A2, SATB2, and SOX5. However, in the early stages, it lacks TBR1 expression, which separates it from other surrounding telencephalic structures. We also found that two waves of neurogenesis (E48 and E55) in the claustrum, corresponding to the birthdates of layers 6 and 5 of the insular cortex, establish a core and shell cytoarchitecture, which is potentially a basis for differential circuit formation and could influence information processing underlying higher cognitive functions of the claustrum. In addition, parvalbumin-positive interneurons are the dominant interneuron type in the claustrum in fetal macaque, and their maturation is independent of that in the overlaying neocortex. Finally, our study reveals that the claustrum is likely not a continuance of subplate neurons of the insular cortex, but an independent pallial region, suggesting its potentially unique role in cognitive control. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

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Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.09.233270v1?rss=1 Authors: Usui, N., Berto, S., Konishi, A., Kondo, M., Konopka, G., Matsuzaki, H., Shimada, S. Abstract: Recent genetic studies have underscored the pleiotropic effects of single genes to multiple cognitive disorders. Mutations of ZBTB16 are associated with autism spectrum disorder (ASD) and schizophrenia (SCZ), but how the function of ZBTB16 is related to ASD or SCZ remains unknown. Here we show the deletion of Zbtb16 in mice leads to both ASD- and SCZ-like behaviors such as social impairment, repetitive behaviors, risk-taking behaviors, and cognitive impairment. To elucidate the mechanism underlying the behavioral phenotypes, we carried out histological studies and observed impairments in thinning of neocortical layer 6 (L6) and a reduction of TBR1+ neurons in the prefrontal cortex (PFC) of Zbtb16 KO mice. Furthermore, we found increased dendritic spines and microglia as well as developmental defects in oligodendrocytes and neocortical myelination in the PFC of Zbtb16 KO mice. Using a genomics approach, we identified the Zbtb16-transcriptome that includes genes involved in both ASD and SCZ pathophysiology and neocortical maturation such as neurogenesis and myelination. Co-expression networks further identified Zbtb16-correlated modules that are unique to ASD or SCZ respectively. Our study provides insight into the differential role of ZBTB16 in ASD and SCZ. Copy rights belong to original authors. Visit the link for more info

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.05.18.102855v1?rss=1 Authors: Wu, J. P. H., Yeung, J., Wu, S.-R., Zoghbi, H. Y., Goldowitz, D. Abstract: Pou3f1 is a transcription factor involved in early neural differentiation. Cap Analysis Gene Expression (5'-CAGE) analysis reveals that Pou3f1 transcript is highly enriched in the developing cerebellum. Between embryonic (E) days E10.5 and E12.5, Pou3f1 expression is present prominently along the subpial stream (SS), suggesting that Pou3f1+ cells are glutamatergic cerebellar nuclear (CN) neurons. This finding was confirmed by immunofluorescent (IF) co-labeling of Pou3f1 and Atoh1, the master regulator of cells from the rhombic lip (RL) that are destined for neurons of the glutamatergic lineage, as well as in Atoh1-null tissues, in which Pou3f1 expression is absent. Interestingly, the expression of Pax6, another key molecule for CN neuron survival, does not co-localize with that of Pou3f1. In the Pax6-null Small Eye (Sey) mutant, which is characterized by a loss of many glutamatergic CN neurons, Pou3f1+ CN neurons are still present. Furthermore, Pou3f1-labeled cells do not co-express Tbr1, a well-established marker of glutamatergic CN neurons. These results highlight that Pou3f1+ cells are a distinct and previously unrecognized subtype of glutamatergic CN neurons that do not have the ''canonical'' sequence of Atoh1[->]Pax6[->]Tbr1 expressions. Instead, they express Atoh1, Pou3f1, and other markers of CN neurons, Brn2 and Irx3. These findings illustrate that glutamatergic CN neurons that arise from the RL are composed of molecularly heterogeneous subpopulations that are determined by at least two distinct transcriptional programs. Copy rights belong to original authors. Visit the link for more info

TBR1 and AUTS2, the development of the cerebral cortex, and developmental transcription factors. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Education] [Professional Medical Education] [Show ID: 33773]

TBR1 and AUTS2, the development of the cerebral cortex, and developmental transcription factors. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Education] [Professional Medical Education] [Show ID: 33773]

TBR1 and AUTS2, the development of the cerebral cortex, and developmental transcription factors. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Education] [Professional Medical Education] [Show ID: 33773]

TBR1 and AUTS2, the development of the cerebral cortex, and developmental transcription factors. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Education] [Professional Medical Education] [Show ID: 33773]

TBR1 and AUTS2, the development of the cerebral cortex, and developmental transcription factors. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Education] [Professional Medical Education] [Show ID: 33773]

TBR1 and AUTS2, the development of the cerebral cortex, and developmental transcription factors. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Education] [Professional Medical Education] [Show ID: 33773]

We have previously shown that transplantation of immature DCX+/NeuN+/Prox1+ neurons (found in the neonatal DG), but not undifferentiated neuronal progenitor cells (NPCs) from ventral subventricular zone (SVZ), results in neuronal maturation in vivo within the dentate niche. Here we investigated whether we could enhance the integration of SVZ NPCs by forced expression of the proneural gene Neurogenin 2 (NEUROG2). NPCs cultured from neonatal GFP-transgenic rat SVZ for 7 days in a non-differentiating medium were transduced with a retrovirus encoding NEUROG2 and DsRed or the DsRed reporter gene alone (control). By 3 days post-transduction, the NEUROG2-transduced cells maintained in culture contained mostly immature neurons (91% DCX+; 76% NeuN+), whereas the control virus-transduced cells remained largely undifferentiated (30% DCX+;

Background: While the diversity and spatio-temporal origin of olfactory bulb (OB) GABAergic interneurons has been studied in detail, much less is known about the subtypes of glutamatergic OB interneurons. Results: We studied the temporal generation and diversity of Neurog2-positive precursor progeny using an inducible genetic fate mapping approach. We show that all subtypes of glutamatergic neurons derive from Neurog2 positive progenitors during development of the OB. Projection neurons, that is, mitral and tufted cells, are produced at early embryonic stages, while a heterogeneous population of glutamatergic juxtaglomerular neurons are generated at later embryonic as well as at perinatal stages. While most juxtaglomerular neurons express the T-Box protein Tbr2, those generated later also express Tbr1. Based on morphological features, these juxtaglomerular cells can be identified as tufted interneurons and short axon cells, respectively. Finally, targeted electroporation experiments provide evidence that while the majority of OB glutamatergic neurons are generated from intrabulbar progenitors, a small portion of them originate from extrabulbar regions at perinatal ages. Conclusions: We provide the first comprehensive analysis of the temporal and spatial generation of OB glutamatergic neurons and identify distinct populations of juxtaglomerular interneurons that differ in their antigenic properties and time of origin.