Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
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Rab18 and a Rab18 GEF complex are required for normal ER structure.Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyRAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagyNew RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishLoss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansMutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.Cargos and genes: insights into vesicular transport from inherited human diseaseGenetics in Keratoconus: where are we?Functions of Rab Proteins at Presynaptic SitesGenes and brain malformations associated with abnormal neuron positioningCharcot-Marie-Tooth disease and intracellular trafficRegulation of small GTPases by GEFs, GAPs, and GDIsRab and Arf proteins in genetic diseasesA RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3The pathologic effect of a novel neomorphic Fgf9(Y162C) allele is restricted to decreased vision and retarded lens growthGenome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.Role of Rab GTPases in membrane traffic and cell physiology3D structure generation, virtual screening and docking of human Ras-associated binding (Rab3A) protein involved in tumourigenesis.Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.Polymicrogyria: a common and heterogeneous malformation of cortical development.Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Current concepts of polymicrogyria.A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonHaploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouseGenomic variation in seven Khoe-San groups reveals adaptation and complex African history.An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.Rab3-GAP controls the progression of synaptic homeostasis at a late stage of vesicle release.Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in miceBilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.Loss-of-function mutations in RAB18 cause Warburg micro syndrome.Synaptotagmin 1 directs repetitive release by coupling vesicle exocytosis to the Rab3 cycleCase-control association between CCT-associated variants and keratoconus in a Saudi Arabian populationA genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.Systematic discovery of Rab GTPases with synaptic functions in Drosophila.
P2860
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P2860
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@ast
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@en
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@nl
type
label
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@ast
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@en
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@nl
prefLabel
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@ast
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@en
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
@en
P2093
André Mégarbané
C Geoffery Woods
Colin A Johnson
Daniel Hampshire
Denise Horn
Dongrong Chen
Elisabeth Rosser
Esther N Maina
Irene A Aligianis
Irene Stolte-Dijkstra
P2860
P2888
P3181
P356
10.1038/NG1517
P407
P50
P577
2005-03-01T00:00:00Z