Ontology highlight
ABSTRACT:
SUBMITTER: Shi Z
PROVIDER: S-EPMC6381738 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Shi Zhiwen Z Chen Shuxia S Han Xiao X Peng Rui R Luo Jin J Yang Luming L Zheng Yufang Y Wang Hongyan H
Molecular cytogenetics 20190220
<h4>Background</h4>Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of internalized TfRs to the cell surface and dense-core vesicle maturation. However, the role of <i>VPS50</i> in embryogenesis and human physiology are poorly understood.<h4>Results</h4>We identified a rare missense heterozygous <i>VPS50</i> mutation (p. Gly169Val) in NTDs by high- ...[more]