ArticleAmerican journal of human genetics2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 117 citations in OpenAlex.
- Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.International journal of molecular sciences · 2025Review
- Article
- Mouse scalp development requires Rac1 and SRF for the maintenance of mechanoresponsive mesenchyme.Development (Cambridge, England) · 2025Article
- Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome.The Kaohsiung journal of medical sciences · 2025Article
- Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis.The Journal of investigative dermatology · 2024Review
- Characterization of a New Variant inGenes · 2024Article
- Distinct mouse models of Stargardt disease display differences in pharmacological targeting of ceramides and inflammatory responses.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- MicroRNAs in atrial fibrillation target genes in structural remodelling.Cell and tissue research · 2023Article
- Lateral thinking in syndromic congenital cardiovascular disease.Disease models & mechanisms · 2023Article
- Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.American journal of medical genetics. Part A · 2022Article
- Endocardial Regulation of Cardiac Development.Journal of cardiovascular development and disease · 2022Review
- Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.Frontiers in surgery · 2022Article
- Synergistic effects of rare variants of ARHGAP31 and FBLN1Frontiers in genetics · 2022Article
- Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.International journal of ophthalmology · 2022Article
- CdGAP promotes prostate cancer metastasis by regulating epithelial-to-mesenchymal transition, cell cycle progression, and apoptosis.Communications biology · 2021Article
- Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy.American journal of ophthalmology case reports · 2020Article
- Recognizable neonatal clinical features of aplasia cutis congenita.Italian journal of pediatrics · 2020Article
- Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.Human mutation · 2018Article
- Congenital diseases caused by defectiveNagoya journal of medical science · 2018Review
- Taking Systems Medicine to Heart.Circulation research · 2018Review
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 6 countries.
Funding
Abstract
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 transverse limb defects (TTLD). Through a genome-wide linkage analysis, we detected a locus for autosomal-dominant ACC-TTLD on 3q generating a maximum LOD score of 4.93 at marker rs1464311. Candidate-gene- and exome-based sequencing led to the identification of independent premature truncating mutations in the terminal exon of the Rho GTPase-activating protein 31 gene, ARHGAP31, which encodes a Cdc42/Rac1 regulatory protein. Mutant transcripts are stable and increase ARHGAP31 activity in vitro through a gain-of-function mechanism. Constitutively active ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt actin cytoskeletal structures. Arhgap31 expression in the mouse is substantially restricted to the terminal limb buds and craniofacial processes during early development; these locations closely mirror the sites of impaired organogenesis that characterize this syndrome. These data identify the requirement for regulated Cdc42 and/or Rac1 signaling processes during early human development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.