Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.S587R
Back to variants list

SASH1

NM_015278.5:p.S587R

Associated Papers

SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature.

Bishnoi A et al.

Pigment Cell & Melanoma Research, 2025

Dyschromatosis universalis hereditaria with SASH1 mutation improved with picosecond laser treatment.

Yuan L et al.

Skin Health and Disease, 2025

SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.

Lambert KA et al.

The Journal of Investigative Dermatology, 2025

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis.

Wang T et al.

Frontiers in Genetics, 2025

SASH1 interacts with TNKS2 and promotes human melanocyte stem cell maintenance.

Lambert KA et al.

Biorxiv : the Preprint Server for Biology, 2023

Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria.

Zhou D et al.

Experimental Dermatology, 2023

Solution NMR backbone assignment of the SASH1 SLy proteins associated disordered region (SPIDER).

Clements CM et al.

Biomolecular Nmr Assignments, 2023

The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria.

Chen H et al.

Journal of Molecular Medicine (berlin, Germany), 2023

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

Cao L et al.

Bmc Medical Genomics, 2021

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.

Liu JW et al.

Journal of Clinical Laboratory Analysis, 2021

Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.

Araki Y et al.

Pigment Cell & Melanoma Research, 2021

SASH1 promotes melanin synthesis and migration via suppression of TGF-β1 secretion in melanocytes resulting in pathologic hyperpigmentation.

Cui H et al.

International Journal of Biological Sciences, 2020

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

Wu N et al.

Frontiers in Genetics, 2020

Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.

Guo K et al.

Pigment Cell & Melanoma Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."