| Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum. | Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
Santaniello C, Faversani A, Corsaro L, Melloni G, Motta S, Mandorino E, Sacco D, Stioui S, Ferrara F, Barteselli D, De Vita D, Manuelli D, Costantino L., Free PMC Article | 07/2/2024 |
| Study demonstrate that CdGAP acts as a novel co-transcriptional repressor with Zeb2 to suppress E-cadherin expression in breast cancer cells. | The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer.
He Y, Northey JJ, Pelletier A, Kos Z, Meunier L, Haibe-Kains B, Mes-Masson AM, Côté JF, Siegel PM, Lamarche-Vane N., Free PMC Article | 09/23/2017 |
| a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31 underscores the relevance of sequencing ARHGAP31 in cases of isolated limb defects, irrespective of presence of a complete Adams-Oliver syndrome phenotype | Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
Isrie M, Wuyts W, Van Esch H, Devriendt K. | 01/17/2015 |
| The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis. | The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis.
Wormer DB, Davis KA, Henderson JH, Turner CE., Free PMC Article | 01/3/2015 |
| Data demonstrate that cdGAP negatively regulates directed and random migration by controlling adhesion maturation and dynamics through the regulation of both adhesion assembly and disassembly. | CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments.
Wormer D, Deakin NO, Turner CE., Free PMC Article | 02/2/2013 |
| specific interaction between negatively charged phospholipid PI(3,4,5)P3 and the stretch of polybasic residues preceding the RhoGAP domain regulates CdGAP activity in vivo and is required for its cellular functions. | A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity.
Karimzadeh F, Primeau M, Mountassif D, Rouiller I, Lamarche-Vane N., Free PMC Article | 08/25/2012 |
| Rho GTPase activating protein 31 | Genetic cause of rare disease may be involved in more common birth defects.
| 11/26/2011 |
| Our findings demonstrate that heterozygous gain-of-function mutations in ARHGAP31 cause an autosomal-dominant form of ACC-TTLD through introduction of premature termination codons in the terminal exon of the gene. | Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC., Free PMC Article | 08/20/2011 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.
Horne BD, Hauser ER, Wang L, Muhlestein JB, Anderson JL, Carlquist JF, Shah SH, Kraus WE., Free PMC Article | 09/16/2009 |
| Results suggest that CdGAP may play an unexpected role in apoptosis. | The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.
Tcherkezian J, Triki I, Stenne R, Danek EI, Lamarche-Vane N. | 01/21/2010 |
| CdGAP is a novel glycogen synthase kinase 3alpha (GSK-3alpha) substrate. | Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.
Danek EI, Tcherkezian J, Triki I, Meriane M, Lamarche-Vane N. | 01/21/2010 |