Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)-Reference-Cited by-同舟云学术

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Published:2011-07-07 Issue:1 Volume:131 Page:99-110
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Hayashi Shin,Okamoto Nobuhiko,Chinen Yasutsugu,Takanashi Jun-ichi,Makita Yoshio,Hata Akira,Imoto Issei,Inazawa Johji

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-011-1047-0.pdf

Reference26 articles.

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2. Chao HW, Hong CJ, Huang TN, Lin YL, Hsueh YP (2008) SUMOylation of the MAGUK protein CASK regulates dendritic spinogenesis. J Cell Biol 182:141–155

3. Cohen AR, Woods DF, Marfatia SM, Walther Z, Chishti AH, Anderson JM (1998) Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. J Cell Biol 142:129–138

4. D’Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T (1995) A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374:719–723

5. Hata Y, Butz S, Südhof TC (1996) CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins. J Neurosci 16:2488–2494

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3. Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia;Frontiers in Genetics;2022-09-07

4. Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH;Frontiers in Genetics;2022-08-25

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