RAB3GAP1 gene

Known as: RAB3GAP, 130-KD SUBUNIT, RAB3 GTPase activating protein catalytic subunit 1, RAB3GAP, CATALYTIC SUBUNIT 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2016
012320052016

Papers overview

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2016
2016
BACKGROUND Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation… (More)
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2016
2016
We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects… (More)
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2015
2015
We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and… (More)
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2015
2015
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder… (More)
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2014
2014
Macroautophagy is a degradative pathway that sequesters and transports cytosolic cargo in autophagosomes to lysosomes, and its… (More)
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2014
2014
The vesicle-associated membrane protein-associated protein B (VAP-B) is a tail-anchored protein in the endoplasmic reticulum (ER… (More)
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2013
2013
Epidermal barrier acquisition during late murine gestation is accompanied by an increase in Akt kinase activity and cJun… (More)
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2010
2010
Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by… (More)
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2006
2006
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing… (More)
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Highly Cited
2005
Highly Cited
2005
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye… (More)
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