Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bahareh Haddad, Derafshi"'
Autor:
Bahareh Haddad Derafshi, Tamas Danko, Soham Chanda, Pedro J. Batista, Ulrike Litzenburger, Qian Yi Lee, Yi Han Ng, Anu Sebin, Howard Y. Chang, Thomas C. Südhof, Marius Wernig
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-28 (2022)
Abstract The chromodomain helicase DNA-binding protein CHD8 is the most frequently mutated gene in autism spectrum disorder. Despite its prominent disease involvement, little is known about its molecular function in the human brain. CHD8 is a chromat
Externí odkaz:
https://doaj.org/article/f6144c8eb12747dd9d2726213f094bb0
Autor:
Pedro J. Batista, Bahareh Haddad Derafshi, Tamas Danko, Marius Wernig, Thomas C. Südhof, Yi Han Ng, Ulrike Litzenburger, Anu Sebin, Soham Chanda, Howard Y. Chang, Qian Yi Lee
Publikováno v:
Scientific Reports. 12
The chromodomain helicase DNA-binding protein CHD8 is among the most frequently found de-novo mutations in autism (1–3). Unlike most other autism-risk genes, CHD8 mutations appear to be fully penetrant (4). Despite its prominent disease involvement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703eeb418f2cef61d6ebc2d0c8772255
https://doi.org/10.1038/s41598-022-23614-x
https://doi.org/10.1038/s41598-022-23614-x
Autor:
Vittorio, Sebastiano, Hanson Hui, Zhen, Bahareh, Haddad, Bahareh Haddad, Derafshi, Elizaveta, Bashkirova, Sandra P, Melo, Pei, Wang, Thomas L, Leung, Zurab, Siprashvili, Andrea, Tichy, Jiang, Li, Mohammed, Ameen, John, Hawkins, Susie, Lee, Lingjie, Li, Aaron, Schwertschkow, Gerhard, Bauer, Leszek, Lisowski, Mark A, Kay, Seung K, Kim, Alfred T, Lane, Marius, Wernig, Anthony E, Oro
Publikováno v:
Science Translational Medicine. 6
Patients with recessive dystrophic epidermolysis bullosa (RDEB) lack functional type VII collagen owing to mutations in the gene COL7A1 and suffer severe blistering and chronic wounds that ultimately lead to infection and development of lethal squamo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::164b5a830e2ae0bb7e90a0ee2ad68ee2
https://doi.org/10.1126/scitranslmed.3009540
https://doi.org/10.1126/scitranslmed.3009540