Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis-Reference-Cited by-同舟云学术

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

Published:2020-08-04 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Wu Nan,Tang Lili,Li Xiuxiu,Dai Yuwei,Zheng Xiaodong,Gao Min,Wang Peiguang

Funder

University Natural Science Research Project of Anhui Province

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference28 articles.

1. A case of dyschromatosis universalis hereditaria with adermatoglyphia: a rare association.;Bhoyar;Indian Dermatol. Online J.,2015

2. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.;Courcet;Eur. J. Hum. Genet.,2015

3. SASH1 promotes melanin synthesis and migration via suppression of TGF-beta1 secretion in melanocytes resulting in pathologic hyperpigmentation.;Cui;Int. J. Biol. Sci.,2020

4. Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.;Cui;PLoS One,2013

5. SASH1 is a scaffold molecule in endothelial TLR4 signaling.;Dauphinee;J. Immunol.,2013

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1. SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage;Journal of Investigative Dermatology;2024-06

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3. SASH1 interacts with TNKS2 and promotes human melanocyte stem cell maintenance;2023-09-29

4. A Systematic Compilation of Human SH3 Domains: A Versatile Superfamily in Cellular Signaling;Cells;2023-08-12

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