Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ching Moey"'
Autor:
Annalisa Paolino, Elizabeth H. Haines, Evan J. Bailey, Dylan A. Black, Ching Moey, Fernando García-Moreno, Linda J. Richards, Rodrigo Suárez, Laura R. Fenlon
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract The time that it takes the brain to develop is highly variable across animals. Although staging systems equate major developmental milestones between mammalian species, it remains unclear how distinct processes of cortical development scale
Externí odkaz:
https://doaj.org/article/cda7d41573284ab082afa69cd0704ddb
Autor:
Jonathan W. C. Lim, Jens Bunt, Caitlin R. Bridges, Ching Moey, Matisse T. Jacobs, Kok-Siong Chen, Linda J. Richards
The nuclear factor one (NFI) transcription factors play key roles in regulating the onset of both neuronal and glial differentiation during cortical development. Reduced NFI expression results in delayed differentiation, which is associated with neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a5f94eb48927dc4ab1fc7d2835069e6
https://doi.org/10.1101/2021.12.26.474186
https://doi.org/10.1101/2021.12.26.474186
Autor:
A. Micheil Innes, Iryna Lobach, Ashley L. Lennox, A. James Barkovich, Caroline Nava, Amy S. Kimball, Sébastien Küry, Julien Thevenon, Benjamin Cogné, Marie Vincent, Debra L. Silver, Bertrand Isidor, Alban Ziegler, Paul Kuentz, Delphine Héron, Kimberly A. Aldinger, Dusica Babovic-Vuksanovic, Elliott H. Sherr, Jens Bunt, Ching Moey, Brieana Fregeau, Lindsey Suit, Diana Rodriguez, Ghayda M. Mirzaa, Patrick R. Blackburn, Noriko Miyake, Cyril Mignot, Brian H.Y. Chung, Alexandra Afenjar, Lot Snijders Blok, Mathilde Nizon, Laurence Faivre, Ruiji Jiang, Nataliya Di Donato, Charles J. Sheehan, Christel Thauvin-Robinet, Boris Keren, Perrine Charles, Bethany L. Johnson-Kerner, Dominique Martin-Coignard, Suzanne DeBrosse, Eric W. Klee, Stéphane Bézieau, Linda J. Richards, Lydie Burglen, Stephen N. Floor, William B. Dobyns
De novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575d8c752d70398fb3fe03f7b2ff7515
Autor:
Dominique Martin-Coignard, Sébastien Küry, Benjamin Cogné, Lot Snijders Blok, Patrick R. Blackburn, Mathilde Nizon, Diana Rodriguez, Ching Moey, Bethany L. Johnson-Kerner, Noriko Miyake, Philippe M. Campeau, Delphine Héron, Elliott H. Sherr, Nataliya Di Donato, Iryna Lobach, Dusica Babovic-Vuksanovic, Caroline Nava, Alexandra Afenjar, A. Micheil Innes, Ruiji Jiang, Naomichi Matsumoto, Stéphane Bézieau, Amy S. Kimball, Marie Vincent, Jens Bunt, Kimberly A. Aldinger, Christel Thauvin-Robinet, Julien Thevenon, Stephen N. Floor, Brian H.Y. Chung, Alban Ziegler, Maria Daniela D'Agostino, Ghayda M. Mirzaa, Paul Kuentz, Laurence Faivre, Cyril Mignot, William B. Dobyns, Boris Keren, Brieana Fregeau, Lindsey Suit, Lydie Burglen, Mariah L. Hoye, Atsushi Fujita, Debra L. Silver, Charles J. Sheehan, A. James Barkovich, Fernando C. Alsina, Srivats Venkataramanan, Bertrand Isidor, Perrine Charles, Eric W. Klee, Linda J. Richards, Ashley L. Lennox, Cynthia J. Curry
Publikováno v:
Neuron. 106(3)
Summary De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of unexplained intellectual disability (ID) cases in females and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35738231ffd11013829d0c96cf7e6060
https://pubmed.ncbi.nlm.nih.gov/32380046
https://pubmed.ncbi.nlm.nih.gov/32380046
Autor:
Ching Moey, Amy K. Johnson, Jorge Vidaurre, Mary Karn, Cheryl Shoubridge, Soma Das, Scott Topper
Publikováno v:
European Journal of Human Genetics. 24:681-689
Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4d26ec41fc050ec130164b6dab16b0d
https://doi.org/10.1038/ejhg.2015.176
https://doi.org/10.1038/ejhg.2015.176
Autor:
Tessa Mattiske, Madhura Bakshi, Natalie P. Thorne, Lisenka E.L.M. Vissers, Ching Moey, Peter Georgeson, Cheryl Shoubridge
Publikováno v:
Human Mutation, 38, 548-555
Human Mutation, 38, 5, pp. 548-555
Human Mutation, 38, 5, pp. 548-555
Item does not contain fulltext The devastating clinical presentation of X-linked lissencephaly with abnormal genitalia (XLAG) is invariably caused by loss-of-function mutations in the Aristaless-related homeobox (ARX) gene. Mutations in this X-chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb70083ae715295ed825876a61b1777
http://hdl.handle.net/2066/174559
http://hdl.handle.net/2066/174559
Autor:
Susan J Hinze, Christopher P. Barnett, Ching Moey, Cheryl Shoubridge, Jozef Gecz, Jillian Nicholl, Nicola Brunetti-Pierri, Louise Brueton, Jenny Morton, Dominic J. McMullan, Benjamin Kamien
Copy number variations are a common cause of intellectual disability (ID). Determining the contribution of copy number variants (CNVs), particularly gains, to disease remains challenging. Here, we report four males with ID with sub-microscopic duplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f166ceea2760a187ef802626b5553d8
http://hdl.handle.net/11588/682818
http://hdl.handle.net/11588/682818