Associated Papers
Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.
Gong W et al.
Scientific Reports, 2025
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
40300787 (PubMed )
Supplement: sj-pdf-5-gtm-10.1089_gtmb.2024.0281.pdf
Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
Li K et al.
Scientific Reports, 2024
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Li X et al.
Human Genetics, 2023
Hereditary Hearing Impairment with Cutaneous Abnormalities.
Lee TL et al.
Genes, 2020
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Minami SB et al.
Gene, 2019
Subcellular localization and stability of MITF are modulated by the bHLH-Zip domain.
Fock V et al.
Pigment Cell & Melanoma Research, 2019
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
Wang XP et al.
Journal of Human Genetics, 2018
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.
Bourneuf E et al.
Scientific Reports, 2017
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George A et al.
American Journal of Human Genetics, 2016
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
Grill C et al.
Human Molecular Genetics, 2013
Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF.
Pogenberg V et al.
Genes & Development, 2012
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains.
Hallsson JH et al.
Pigment Cell Research, 2007
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