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SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N. Pingault V, et al. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19. J Med Genet. 2022. PMID: 34667088 Free PMC article. Review.
The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Waardenburg syndrome type 4. Since then, heterozygous mutations have been reported in Waardenburg …
The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations …
Clinical findings in Japanese patients with Waardenburg syndrome type 2.
Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M. Ohno N, et al. Jpn J Ophthalmol. 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9. Jpn J Ophthalmol. 2003. PMID: 12586183 Review.
PURPOSE: To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2. METHODS: The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with …
PURPOSE: To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2. METH …
Neuroendocrine functions of melanocytes: beyond the skin-deep melanin maker.
Takeda K, Takahashi NH, Shibahara S. Takeda K, et al. Tohoku J Exp Med. 2007 Mar;211(3):201-21. doi: 10.1620/tjem.211.201. Tohoku J Exp Med. 2007. PMID: 17347546 Free article. Review.
Moreover, heterozygous mutations in the gene coding for microphthalmia-associated transcription factor, a key regulator for melanocyte development, are associated with Waardenburg syndrome type 2, an auditory-pigmentary disorder. Sun tanning, melasma, …
Moreover, heterozygous mutations in the gene coding for microphthalmia-associated transcription factor, a key regulator for melanocyte devel …
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 …
Two mutations (C760-->T and C895-->T) in MITF are found to be associated with individuals with Waardenburg syndrome t …
Microphthalmia-associated transcription factor in the Wnt signaling pathway.
Saito H, Yasumoto K, Takeda K, Takahashi K, Yamamoto H, Shibahara S. Saito H, et al. Pigment Cell Res. 2003 Jun;16(3):261-5. doi: 10.1034/j.1600-0749.2003.00039.x. Pigment Cell Res. 2003. PMID: 12753399 Review.
Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with Waardenburg syndrome type 2 (WS2) that is characterized by deafness and hypopigmentation because of lack of melanoc …
Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with …
Cochlear melanocytes and MITF signaling.
Tachibana M. Tachibana M. J Investig Dermatol Symp Proc. 2001 Nov;6(1):95-8. doi: 10.1046/j.0022-202x.2001.00017.x. J Investig Dermatol Symp Proc. 2001. PMID: 11764294 Free article. Review.
Disruption of MITF causes deafness, heterochromia irides, and leucodermia in Waardenburg syndrome type 2 individuals, whereas that of Mitf causes phenotypes of deafness, microphthalmia, and white coat in mice. ...
Disruption of MITF causes deafness, heterochromia irides, and leucodermia in Waardenburg syndrome type 2 individ …
MITF: a stream flowing for pigment cells.
Tachibana M. Tachibana M. Pigment Cell Res. 2000 Aug;13(4):230-40. doi: 10.1034/j.1600-0749.2000.130404.x. Pigment Cell Res. 2000. PMID: 10952390 Review.
Mutations of the MITF gene cause a variety of phenotypes, most notably in pigmented cells, in several species. In humans, haploinsufficiency of MITF causes Waardenburg syndrome type 2, while a dominant-negative mutation causes Tietz syndrome. ...
Mutations of the MITF gene cause a variety of phenotypes, most notably in pigmented cells, in several species. In humans, haploinsufficiency …