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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.
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for development, es …
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which cont …
Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
Chen K, Wang H, Lai Y. Chen K, et al. Front Endocrinol (Lausanne). 2021 Feb 1;11:592831. doi: 10.3389/fendo.2020.592831. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33597923 Free PMC article. Review.
INTRODUCTION: Kallmann syndrome (KS) is idiopathic hypogonadotropic hypogonadism with olfactory loss or decline. Waardenburg syndrome type II (WS2) is a clinically and genetically heterogeneous disease, characterized by congenital sensorineural deafnes …
INTRODUCTION: Kallmann syndrome (KS) is idiopathic hypogonadotropic hypogonadism with olfactory loss or decline. Waardenburg
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 …
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 …
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
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 …
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 …
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 …