MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function (Q37463551)

20 August 2017

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function (English)

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20 August 2017

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20 August 2017

Vivian Pogenberg

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Veronique Pingault

object named as

Veronique Pingault

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author name string

Christine Grill

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1 reference

20 August 2017

Kristín Bergsteinsdóttir

2

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20 August 2017

Margrét H Ogmundsdóttir

3

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20 August 2017

Alexander Schepsky

5

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20 August 2017

Eiríkur Steingrímsson

8

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20 August 2017

20 June 2013

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20 August 2017

Human Molecular Genetics

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20 August 2017

22

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20 August 2017

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20 August 2017

4357-4367

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describes a project that uses

20 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3888191/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF

1 reference

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Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses

23 August 2017

1 reference

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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

23 August 2017

1 reference

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A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

23 August 2017

1 reference

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Review and update of mutations causing Waardenburg syndrome.

23 August 2017

1 reference

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Fifteen-year quest for microphthalmia-associated transcription factor target genes

23 August 2017

1 reference

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Frequent mutations in the MITF pathway in melanoma

23 August 2017

1 reference

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Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF.

23 August 2017

1 reference

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Lineage dependency and lineage-survival oncogenes in human cancer

23 August 2017

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Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner

23 August 2017

1 reference

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Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma

23 August 2017

1 reference

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Melanocytes and the microphthalmia transcription factor network

23 August 2017

1 reference

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A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

23 August 2017

1 reference

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A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance

23 August 2017

1 reference

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GSK3 takes centre stage more than 20 years after its discovery

23 August 2017

1 reference

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Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

23 August 2017

1 reference

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Microphthalmia transcription factor. A sensitive and specific melanocyte marker for MelanomaDiagnosis

23 August 2017

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23 August 2017

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Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888191

The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential

23 August 2017

1 reference

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Identification of the Hepatocyte Growth Factor Receptor As the c- met Proto-Oncogene Product

23 August 2017

1 reference

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Positive and negative elements regulate a melanocyte-specific promoter

23 August 2017

1 reference

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The mutational spectrum in Waardenburg syndrome.

23 August 2017

1 reference

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Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.

23 August 2017

1 reference

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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

6 September 2017

1 reference

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Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma.

6 September 2017

1 reference

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A dominant negative mutant of microphthalmia transcription factor (MITF) lacking two transactivation domains suppresses transcription mediated by wild type MITF and a hyperactive MITF derivative.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888191

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888191

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

28 September 2017

1 reference

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Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator.

26 June 2018

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Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.

26 June 2018

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Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888191

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family

2 September 2018

1 reference

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Expression of the c-Met/HGF receptor in human melanocytic neoplasms: demonstration of the relationship to malignant melanoma tumour progression

2 September 2018

1 reference

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A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

2 September 2018

1 reference

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Microphthalmia transcription factor expression in cutaneous benign, malignant melanocytic, and nonmelanocytic tumors

2 September 2018

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12 December 2020

Ordered multisite protein phosphorylation. Analysis of glycogen synthase kinase 3 action using model peptide substrates

1 reference

12 December 2020

Isoform differences in substrate recognition by glycogen synthase kinases 3 alpha and 3 beta in the phosphorylation of phosphatase inhibitor 2

1 reference

12 December 2020

CBP/p300 as a co-factor for the Microphthalmia transcription factor

1 reference

12 December 2020

Up-regulation of MET Expression by α-Melanocyte-stimulating Hormone and MITF Allows Hepatocyte Growth Factor to Protect Melanocytes and Melanoma Cells from Apoptosis

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT285

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23787126

1 reference