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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
SASH1 interacts with TNKS2 and promotes human melanocyte stem cell maintenance.
Lambert KA et al.
Biorxiv : the Preprint Server for Biology, 2023
Solution NMR backbone assignment of the SASH1 SLy proteins associated disordered region (SPIDER).
Clements CM et al.
Biomolecular Nmr Assignments, 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
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
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
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Courcet JB et al.
European Journal of Human Genetics : Ejhg, 2015
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