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Article

Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

Molecular and cellular biology - 1 Oct 2012

Wu Xue, Yin Jiani, Simpson Jeremy, Kim Kyoung-Han, Gu Shengqing, Hong Jenny H, Bayliss Peter, Backx Peter H, Neel Benjamin G, Araki Toshiyuki

Abstract excerpt

Noonan syndrome (NS) is a relatively common autosomal dominant disorder characterized by congenital heart defects, short stature, and facial dysmorphia. NS is caused by germ line mutations in several components of the RAS-RAF-MEK-extracellular signal-regulated kinase (ERK) mitogen-activated protein kinase (MAPK) pathway, including both kinase-activating and kinase-impaired alleles of RAF1 (∼3 to 5%), which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22826437
DOI: 10.1128/MCB.00751-12
PMCID: PMC3457534

Genes

RAF1
BRAF

Variants

Provenance

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Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.PMID 22826437Read ↗

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