Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome
about
BMS1 is mutated in aplasia cutis congenitaRecessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegiaAtypical angiopoietin-like protein that regulates ANGPTL3Regulation of small GTPases by GEFs, GAPs, and GDIsDisease gene identification strategies for exome sequencingMutations in NOTCH1 cause Adams-Oliver syndromeHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeRBPJ mutations identified in two families affected by Adams-Oliver syndromeMutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndromeAutosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferaseGenetics and genomic medicine in Saudi ArabiaA novel syndrome of lethal familial hyperekplexia associated with brain malformation.O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammalsWhole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID)Genetics and epigenetics of the skin meet deep sequence.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.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.Rho GTPases in embryonic developmentPOC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.Zizimin and Dock guanine nucleotide exchange factors in cell function and disease.X-Linked Candidate Genes for a Ciliopathy-Like Disorder.CdGAP/ARHGAP31, a Cdc42/Rac1 GTPase regulator, is critical for vascular development and VEGF-mediated angiogenesis.Discovery of rare homozygous mutations from studies of consanguineous pedigrees.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Exome sequencing greatly expedites the progressive research of Mendelian diseases.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.Angiopoietin-like proteins 3, 4 and 8: regulating lipid metabolism and providing new hope for metabolic syndrome.Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus.Comparative Phosphoproteomics Analysis of VEGF and Angiopoietin-1 Signaling Reveals ZO-1 as a Critical Regulator of Endothelial Cell ProliferationMultiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A.Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.DOCK6 inactivation highlights ISGylation as RHO-GTPase balancer.Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases.DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
P2860
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P2860
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome
description
2011 nî lūn-bûn
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2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@ast
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@en
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@nl
type
label
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@ast
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@en
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@nl
prefLabel
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@ast
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@en
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@nl
P2093
P2860
P3181
P1476
Recessive mutations in DOCK6, ...... tion and Adams-Oliver syndrome
@en
P2093
Asma Sunker
Eissa Faqeih
Hanan E Shamseldin
Heba Morsy
Mais Hashem
Nouran Adly
Ranad Shaheen
Tarfa Al-Sheddi
P2860
P304
P3181
P356
10.1016/J.AJHG.2011.07.009
P407
P577
2011-08-12T00:00:00Z