Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth-Reference-Cited by-同舟云学术

Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth

Published:2015-05-13 Issue:17 Volume:24 Page:4775-4779
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Loveday Chey,Tatton-Brown Katrina,Clarke Matthew,Westwood Isaac,Renwick Anthony,Ramsay Emma,Nemeth Andrea,Campbell Jennifer,Joss Shelagh,Gardner McKinlay,Zachariou Anna,Elliott Anna,Ruark Elise,van Montfort Rob,Rahman Nazneen,

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/17/4775/13940805/ddv182.pdf

Reference14 articles.

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2. Tatton-Brown K. Hanks S. Ruark E. Zachariou A. Duarte Sdel V. Ramsay E. Snape K. Murray A. Perdeaux E.R. Seal S. (2011) Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget, 2, 1127–1133.

3. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

4. Phosphatase: PP2A structural importance, regulation and its aberrant expression in cancer

5. Molecular Determinants for PP2A Substrate Specificity: Charged Residues Mediate Dephosphorylation of Tyrosine Hydroxylase by the PP2A/B′ Regulatory Subunit

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