Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Joseph F Bohlen"'
Autor:
Joseph F Bohlen, Colin M Cleary, Debamitra Das, Srinidhi Rao Sripathy, Norah Sadowski, Gina Shim, Rakaia F Kenney, Ingrid P Buchler, Tapasree Banerji, Thomas S Scanlan, Daniel K Mulkey, Brady J Maher
Publikováno v:
Brain.
Pitt–Hopkins syndrome is an autism spectrum disorder caused by autosomal dominant mutations in the human transcription factor 4 gene (TCF4). One pathobiological process caused by murine Tcf4 mutation is a cell autonomous reduction in oligodendrocyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::843f3974dec634234553a8ce35509265
https://doi.org/10.1093/brain/awad057
https://doi.org/10.1093/brain/awad057
Autor:
Brittany A. Davis, Huei-Ying Chen, Zengyou Ye, Isaac Ostlund, Madhavi Tippani, Debamitra Das, Srinidhi Rao Sripathy, Yanhong Wang, Jacqueline M. Martin, Gina Shim, Neel M. Panchwagh, Rebecca L. Moses, Federica Farinelli, Joseph F. Bohlen, Meijie Li, Bryan W. Luikart, Andrew E. Jaffe, Brady J. Maher
Genetic variation in the transcription factor 4 (TCF4)gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of ASD called Pitt Hopkins Syndrome (PTHS).TCF4encodes an activity-dependent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bed46456bf887b9b844993a055651780
https://doi.org/10.1101/2023.01.19.524788
https://doi.org/10.1101/2023.01.19.524788
Publikováno v:
Developmental Neuroscience. 43:159-167
Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. In this rev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd845c264c35ab399be1760863477034
https://doi.org/10.1159/000516666
https://doi.org/10.1159/000516666
Autor:
Stephanie Cerceo Page, Danisha Gallop, Huei Ying Chen, Brent Mayfield, BaDoi N. Phan, Andrew J. Kennedy, Brady J. Maher, Morganne N. Campbell, Hyojin Kim, J. David Sweatt, Courtney Thaxton, Andrew E. Jaffe, Zeng You Ye, Hannah L. Smith, Joo Heon Shin, Srinidhi Rao Sripathy, Benjamin D. Philpot, Joseph F. Bohlen, Brittany A. Davis, Emily E. Burke, Jeremy M. Simon
Publikováno v:
Nature neuroscience
Autism spectrum disorder (ASD) is genetically heterogeneous with convergent symptomatology, suggesting common dysregulated pathways. We analyzed brain transcriptional changes in five mouse models of Pitt-Hopkins Syndrome (PTHS), a syndromic form of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31a1cee8ae8eacc8ad359e9132c145b1
https://pubmed.ncbi.nlm.nih.gov/32015540
https://pubmed.ncbi.nlm.nih.gov/32015540
Autor:
Andrew E. Jaffe, Joseph F. Bohlen, Courtney Thaxton, BaDoi N. Phan, Brady J. Maher, Morganne N. Campbell, Andrew J. Kennedy, J. David Sweatt, Stephanie Cerceo Page, Emily E. Burke, Jeremy M. Simon, Benjamin D. Philpot, Joo Heon Shin
Autism spectrum disorder (ASD) affects approximately 1:68 individuals and has incalculable burdens on affected individuals, their families, and health care systems. While the genetic contributions to idiopathic ASD are heterogeneous and largely unkno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bd5c6bf8f6d5ad2ed849374da4817e1
https://doi.org/10.1101/128124
https://doi.org/10.1101/128124