Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Abbie M. Maguire"'
Autor:
Calvin S Leung, Shoshana J Rosenzweig, Brian Yoon, Nicholas A Marinelli, Ethan W Hollingsworth, Abbie M Maguire, Mara H Cowen, Michael Schmidt, Jaime Imitola, Ece D Gamsiz Uzun, Sofia B Lizarraga
Autism spectrum disorder (ASD) affects 1 in 44 children. Chromatin regulatory proteins are overrepresented among genes that contain high risk variants in ASD. Disruption of the chromatin environment leads to widespread dysregulation of gene expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea677a9947fd6b29fc4c1485b2e3b6ad
https://doi.org/10.1101/2022.09.08.507162
https://doi.org/10.1101/2022.09.08.507162
Autor:
Laura I. van Dyck, Dipal Nagda, Avner Schlessinger, Sofia B. Lizarraga, Abbie M. Maguire, Michael Schmidt, Diane Hoffman-Kim, Qing Wu, Paul Brito-Vargas, Mara H. Cowen, Liane L. Livi, Li Ma, Matthew F. Pescosolido, Qing Ouyang, Ece D. Gamsiz Uzun, Shanique Alabi, Brian C. Kavanaugh, Eric M. Morrow, Richard N. Jones
Publikováno v:
Sci Transl Med
Christianson syndrome (CS), an X-linked neurological disorder characterized by postnatal attenuation of brain growth (postnatal microcephaly), is caused by mutations in SLC9A6 (also termed NHE6), the gene encoding endosomal Na(+)/H(+) exchanger 6 (NH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fb7b13f6232a78e35636cba1bfae712
https://doi.org/10.1126/scitranslmed.aaw0682
https://doi.org/10.1126/scitranslmed.aaw0682
Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategies
Autor:
Abbie M. Maguire, Qing Wu, Matthew F. Pescosolido, Michael Schmidt, Sofia B. Lizarraga, Avner Schlessinger, Eric M. Morrow, Laura I. van Dyck, Li Ma, Richard N. Jones, Ece D Gamzis Uzun, Mara H. Cowen, Paul Brito-Vargas, Dipal Nagda, Shanique Alabi, Liane L. Livi, Diane Hoffman-Kim
Human genetic disorders provide a powerful lens to understanding the human brain. Induced pluripotent stem cells (iPSC) represent an important, new resource for mechanistic studies and therapeutic development. Christianson syndrome (CS), an X-linked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0155d26047d52f7cb62a62ca1eebcc
https://doi.org/10.1101/444232
https://doi.org/10.1101/444232
Autor:
Laura I. van Dyck, Ece D. Gamsiz, Eric M. Morrow, Laura N. Sciarra, Abbie M. Maguire, Matthew F. Pescosolido
Publikováno v:
Neurotherapeutics. 12:553-571
Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9188190c964864bc7936fa76780c8637
https://doi.org/10.1007/s13311-015-0363-9
https://doi.org/10.1007/s13311-015-0363-9