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Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.
Tachibana M. Tachibana M. Pigment Cell Res. 1997 Feb-Apr;10(1-2):25-33. doi: 10.1111/j.1600-0749.1997.tb00462.x. Pigment Cell Res. 1997. PMID: 9170159 Review.
Two mutations (C760-->T and C895-->T) in MITF are found to be associated with individuals with Waardenburg syndrome type 2 (WS2). These mutations create stop codons in exon 7 and 8, respectively, and probably result in truncated proteins lacking HLH-Zip …
Two mutations (C760-->T and C895-->T) in MITF are found to be associated with individuals with Waardenburg syndrome t …
Melanocytes and the microphthalmia transcription factor network.
Steingrímsson E, Copeland NG, Jenkins NA. Steingrímsson E, et al. Annu Rev Genet. 2004;38:365-411. doi: 10.1146/annurev.genet.38.072902.092717. Annu Rev Genet. 2004. PMID: 15568981 Review.
The human homologue of MITF is mutated in patients with the pigmentary and deafness disorder Waardenburg Syndrome Type 2A (WS2A). The mouse Mitf mutations therefore serve as a model for the study of this human disease. ...
The human homologue of MITF is mutated in patients with the pigmentary and deafness disorder Waardenburg Syndrome Type …
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M, Miliński M, Buszman E, Wrześniok D, Beberok A. Otręba M, et al. Postepy Hig Med Dosw (Online). 2013 Nov 26;67:1109-18. doi: 10.5604/17322693.1077722. Postepy Hig Med Dosw (Online). 2013. PMID: 24379252 Free article. Review. Polish.
It has been demonstrated that mutations of the same gene may cause different hypopigmentation syndromes that may have similar phenotypes. For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome. It ha …
It has been demonstrated that mutations of the same gene may cause different hypopigmentation syndromes that may have similar phenotypes. Fo …