Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

doi:10.1016/j.ajhg.2011.04.013

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Article

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

American journal of human genetics - 13 May 2011

Southgate Laura, Machado Rajiv D, Snape Katie M, Primeau Martin, Dafou Dimitra, Ruddy Deborah M, Branney Peter A, Fisher Malcolm, Lee Grace J, Simpson Michael A, He Yi, Bradshaw Teisha Y, Blaumeiser Bettina, Winship William S, Reardon Willie, Maher Eamonn R, FitzPatrick David R, Wuyts Wim, Zenker Martin, Lamarche-Vane Nathalie, Trembath Richard C

Abstract excerpt

Regulation of cell proliferation and motility is essential for normal development. The Rho family of GTPases plays a critical role in the control of cell polarity and migration by effecting the cytoskeleton, membrane trafficking, and cell adhesion. We investigated a recognized developmental disorder, Adams-Oliver syndrome (AOS), characterized by the combination of aplasia cutis congenita (ACC) and terminal...

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Identifiers

PMID: 21565291
DOI: 10.1016/j.ajhg.2011.04.013
PMCID: PMC3146732

Genes

ARHGAP31

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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