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

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

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

http://www.wikidata.org/entity/Q24626495

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BMS1 is mutated in aplasia cutis congenita The role of large pedigrees in an era of high-throughput sequencing Regulation of small GTPases by GEFs, GAPs, and GDIs The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome Mutations in NOTCH1 cause Adams-Oliver syndrome Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome RBPJ mutations identified in two families affected by Adams-Oliver syndrome Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments.Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.Exome sequencing in Parkinson's disease.A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity.Rho GTPases in embryonic development Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease Notch Signaling and the Skeleton.CdGAP/ARHGAP31, a Cdc42/Rac1 GTPase regulator, is critical for vascular development and VEGF-mediated angiogenesis.The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.Role of Rho-GTPases and their regulatory proteins in glomerular podocyte function.Skin manifestations in CDG.Insights into the biological functions of Dock family guanine nucleotide exchange factors.Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer.EOGT and O-GlcNAc on secreted and membrane proteins.The scaffold protein Ajuba suppresses CdGAP activity in epithelia to maintain stable cell-cell contacts.Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A.Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.Taking Systems Medicine to Heart.Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein.DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.Novel copy number variants and major limb reduction malformation: Report of three cases.Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum Congenital diseases caused by defective -glycosylation of Notch receptors

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

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2011年の論文

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J.AJHG.2011.04.013

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American Journal of Human Genetics

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Bettina Blaumeiser

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Deborah M Ruddy

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Grace J Lee

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Katie M Snape

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Martin Primeau

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Peter A Branney

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Teisha Y Bradshaw

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William S Winship

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Willie Reardon

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P2860

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10.1016/J.AJHG.2011.04.013

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5

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88

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Richard C Trembath

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Malcolm E Fisher

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