Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients-Reference-Cited by-同舟云学术

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Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

Published:2013-01-18 Issue:4 Volume:132 Page:461-471
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kunde Stella-Amrei,Rademacher Nils,Tzschach Andreas,Wiedersberg Eberhard,Ullmann Reinhard,Kalscheuer Vera M.,Shoichet Sarah A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-012-1260-5.pdf

Reference23 articles.

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2. Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA (2008) Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 82:927–936

3. Bjorkblom B, Ostman N, Hongisto V, Komarovski V, Filen JJ, Nyman TA, Kallunki T, Courtney MJ, Coffey ET (2005) Constitutively active cytoplasmic c-Jun N-terminal kinase 1 is a dominant regulator of dendritic architecture: role of microtubule-associated protein 2 as an effector. J Neurosci 25:6350–6361

4. Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R (2005) CGHPRO—a comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85

5. Derijard B, Hibi M, Wu IH, Barrett T, Su B, Deng T, Karin M, Davis RJ (1994) JNK1: a protein kinase stimulated by UV light and Ha-Ras that binds and phosphorylates the c-Jun activation domain. Cell 76:1025–1037

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