Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform
CL Hershey, DE Fisher - Gene, 2005 - Elsevier
The deafness–pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations
in the human Microphthalmia-associated transcription factor (MITF) gene. Multiple related …
in the human Microphthalmia-associated transcription factor (MITF) gene. Multiple related …
Genomic, Transcriptional and Mutational Analysis of the Mouse microphthalmia Locus
JH Hallsson, J Favor, C Hodgkinson, T Glaser… - Genetics, 2000 - academic.oup.com
Mouse microphthalmia transcription factor (Mitf) mutations affect the development of four cell
types: melanocytes, mast cells, osteoclasts, and pigmented epithelial cells of the eye. The …
types: melanocytes, mast cells, osteoclasts, and pigmented epithelial cells of the eye. The …
Melanocytes and the Microphthalmia Transcription Factor Network
E Steingrímsson, NG Copeland, NA Jenkins - Annu. Rev. Genet., 2004 - annualreviews.org
▪ Abstract The first mouse microphthalmia transcription factor (Mitf) mutation was discovered
over 60 years ago, and since then over 24 spontaneous and induced mutations have been …
over 60 years ago, and since then over 24 spontaneous and induced mutations have been …
An L1 Element Intronic Insertion in the Black-Eyed White (Mitfmi-bw) Gene: The Loss of a Single Mitf Isoform Responsible for the Pigmentary Defect and Inner Ear …
Abstract Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder
characterized by a combination of pigmentary and auditory abnormalities. Approximately …
characterized by a combination of pigmentary and auditory abnormalities. Approximately …
Evidence to Suggest That Expression of MITF Induces Melanocyte Differentiation and Haploinsufficiency of MITF Causes Waardenburg Syndrome Type 2A
M Tachibana - Pigment cell research, 1997 - Wiley Online Library
MITF (microphthalmia‐associated transcription factor) encodes a transcription factor with a
basic‐helix‐loop‐helix‐leucine zipper (bHLH‐Zip) motif. Ectopic expression of MITF is found …
basic‐helix‐loop‐helix‐leucine zipper (bHLH‐Zip) motif. Ectopic expression of MITF is found …
Mutation at the Anophthalmia White Locus in Syrian Hamsters: Hploinsufficiency in the Mitf Gene Mimics Human Waardenburg Syndrome Type 2
CA Hodgkinson, A Nakayama, H Li… - Human molecular …, 1998 - academic.oup.com
Mutations in MITF (microphthalmia transcription factor) cause Waardenburg syndrome type
2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and …
2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and …
[HTML][HTML] Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
S Léger, X Balguerie, A Goldenberg… - European Journal of …, 2012 - nature.com
The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine
zipper transcription factor, which regulates melanocyte development and the biosynthetic …
zipper transcription factor, which regulates melanocyte development and the biosynthetic …
Identification of a distal enhancer for the melanocyte‐specific promoter of the MITF gene
K Watanabe, K Takeda, K Yasumoto… - Pigment cell …, 2002 - Wiley Online Library
Waardenburg syndrome (WS) is characterized by deafness and hypopigmentation because
of the lack of melanocytes in the inner ear and skin. WS type 2 is associated with mutations …
of the lack of melanocytes in the inner ear and skin. WS type 2 is associated with mutations …
[HTML][HTML] Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently
A Nakayama, MTT Nguyen, CC Chen… - Mechanisms of …, 1998 - Elsevier
The mouse microphthalmia (Mitf) gene encodes a basic-helix-loop-helix-zipper transcription
factor whose mutations are associated with abnormalities in neuroepithelial and neural crest …
factor whose mutations are associated with abnormalities in neuroepithelial and neural crest …
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function
C Grill, K Bergsteinsdóttir… - Human Molecular …, 2013 - academic.oup.com
The basic-helix–loop–helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-
associated transcription factor) is a master regulator of melanocyte development. Mutations …
associated transcription factor) is a master regulator of melanocyte development. Mutations …