MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill, Christine; Bergsteinsdóttir, Kristín; Ogmundsdóttir, Margrét H; Pogenberg, Vivian; Schepsky, Alexander; Wilmanns, Matthias; Pingault, Veronique; Steingrímsson, Eiríkur

Grill, Christine; Bergsteinsdóttir, Kristín; Ogmundsdóttir, Margrét H; Pogenberg, Vivian; Schepsky, Alexander; Wilmanns, Matthias; Pingault, Veronique; Steingrímsson, Eiríkur.

Affiliation

Grill C; Department of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101 Reykjavik, Iceland.

Hum Mol Genet ; 22(21): 4357-67, 2013 Nov 01.

Article in En | MEDLINE | ID: mdl-23787126

Subject(s)

Albinism, Oculocutaneous/genetics; Deafness/genetics; Melanoma/genetics; Microphthalmia-Associated Transcription Factor/genetics; Microphthalmia-Associated Transcription Factor/metabolism; Waardenburg Syndrome/genetics; Adolescent; Adult; Albinism, Oculocutaneous/metabolism; Albinism, Oculocutaneous/pathology; Binding Sites; Child; Child, Preschool; Deafness/metabolism; Deafness/pathology; Female; Genetic Variation; HEK293 Cells; Humans; Male; Melanoma/metabolism; Melanoma/pathology; Mutation, Missense; Promoter Regions, Genetic; Transcriptional Activation; Transfection; Waardenburg Syndrome/metabolism; Waardenburg Syndrome/pathology; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Albinism, Oculocutaneous / Deafness / Microphthalmia-Associated Transcription Factor / Melanoma Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Iceland

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