Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes:CHD gene expression during mouse development

Autor: Kasah, Sahrunizam, Oddy, Christopher, Basson, M. Albert

Publikováno v: Kasah, S, Oddy, C & Basson, M A 2018, ' Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes : CHD gene expression during mouse development ', Journal of Anatomy . https://doi.org/10.1111/joa.12889

Recent large-scale exome sequencing studies have identified mutations in several members of the CHD (Chromodomain Helicase DNA-binding protein) gene family in neurodevelopmental disorders. Mutations in the CHD2 gene have been linked to developmental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::9187fb667186506d0a1410e174c322b2
https://kclpure.kcl.ac.uk/ws/files/100968002/Kasah_JAnat.pdf

The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression

Autor: Whittaker, Danielle E., Riegman, Kimberley L.H., Kasah, Sahrunizam, Mohan, Conor, Yu, Tian, Sala, Blanca Pijuan, Hebaishi, Husam, Caruso, Angela, Marques, Ana Claudia, Michetti, Caterina, Smachetti, María Eugenia Sanz, Shah, Apar, Sabbioni, Mara, Kulhanci, Omer, Tee, Wee-Wei, Reinberg, Danny, Scattoni, Maria Luisa, Volk, Holger, McGonnell, Imelda, Wardle, Fiona C., Fernandes, Cathy, Basson, M. Albert

Publikováno v: The Journal of Clinical Investigation
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Clinical Investigation
The Journal of clinical investigation, vol. 127, no. 3, pp. 874-887
Whittaker, D E, Riegman, K L H, Kasah, S, Mohan, C, Yu, T, Sala, B P, Hebaishi, H, Caruso, A, Marques, A C, Michetti, C, Smachetti, M E S, Shah, A, Sabbioni, M, Kulhanci, O, Tee, W W, Reinberg, D, Scattoni, M L, Volk, H, McGonnell, I, Wardle, F C, Fernandes, C & Basson, M A 2017, ' The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression ', Journal of Clinical Investigation, vol. 127, no. 3, pp. 874-887 . https://doi.org/10.1172/JCI83408

The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c29817b5ea06fb925604619a198d7923
https://www.jci.org/articles/view/83408

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.

Autor: Whittaker, Danielle E., Kasah, Sahrunizam, Donovan, Alex P. A., Ellegood, Jacob, Riegman, Kimberley L. H., Volk, Holger A., McGonnell, Imelda, Lerch, Jason P., Basson, M. Albert

Publikováno v: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2017, Vol. 175 Issue 4, pn/a-N.PAG, 13p

Distinct cerebellar foliation anomalies in a CHD7haploinsufficient mouse model of CHARGE syndrome

Autor: Whittaker, Danielle E., Kasah, Sahrunizam, Donovan, Alex P. A., Ellegood, Jacob, Riegman, Kimberley L. H., Volk, Holger A., McGonnell, Imelda, Lerch, Jason P., Basson, M. Albert

Publikováno v: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; December 2017, Vol. 175 Issue: 4