Associated Papers
SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature.
Bishnoi A et al.
Pigment Cell & Melanoma Research, 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
Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.
Araki Y et al.
Pigment Cell & Melanoma Research, 2021
Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model.
Xu Z et al.
International Journal of Molecular Medicine, 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
p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation.
Zhou D et al.
Journal of Cellular and Molecular Medicine, 2017
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines.
Wang J et al.
Acta Dermato-venereologica, 2017
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation.
Zhou D et al.
Journal of Cellular and Molecular Medicine, 2017
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.
Zhang J et al.
Clinical Genetics, 2016
SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype.
Shellman YG et al.
The Journal of Investigative Dermatology, 2015
SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway.
Zhou D et al.
Cellular Signalling, 2013
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