Varaico: Literature-Extracted Genetic Variants

Gene:CHMP4B
Variant:p.D129V
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CHMP4B

NM_176812.5:p.D129V

Associated Papers

HSP90β prevents aging-related cataract formation through regulation of the charged multivesicular body protein (CHMP4B) and p53.

Fu JL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Charged multivesicular body protein 4b forms complexes with gap junction proteins during lens fiber cell differentiation.

Zhou Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies.

Beyer EC et al.

Frontiers in Physiology, 2022

Adding Some "Splice" to Stress Eating: Autophagy, ESCRT and Alternative Splicing Orchestrate the Cellular Stress Response.

Habib E et al.

Genes, 2021

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.

Wang X et al.

Frontiers in Medicine, 2021

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

Mutation profiles of congenital cataract genes in 21 northern Chinese families.

Zhang XH et al.

Molecular Vision, 2018

Association of CHMP4B and autophagy with micronuclei: implications for cataract formation.

Sagona AP et al.

Biomed Research International, 2014

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

Shiels A et al.

American Journal of Human Genetics, 2007

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation.

Zhou Y et al.

Differentiation; Research in Biological Diversity, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."