A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma (Q35699278)

9 August 2017

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

1 reference

9 August 2017

30

1 reference

9 August 2017

37

1 reference

9 August 2017

42

D Timothy Bishop

0 references

Susan Woods

Susan L Woods

2

0 references

Vanessa F Bonazzi

Vanessa Bonazzi

16

0 references

Matthew H Law

Matthew H Law

19

0 references

Mitchell S. Stark

Mitchell S Stark

17

0 references

Glen M. Boyle

Glen M Boyle

3

0 references

Graham J Mann

Graham J Mann

41

0 references

Mark Jenkins

Mark A Jenkins

28

0 references

Stuart Macgregor

Stuart MacGregor

5

0 references

David L. Duffy

David L Duffy

12

0 references

David C. Whiteman

David C Whiteman

34

0 references

Richard F. Kefford

Richard F Kefford

29

0 references

Grant W. Montgomery

Grant W Montgomery

39

0 references

Nick Martin

Nicholas G Martin

40

0 references

Joanne F Aitken

Joanne F Aitken

32

0 references

Douglas F. Easton

36

Douglas F Easton

1 reference

9 August 2017

33

John L Hopper

1 reference

9 August 2017

Satoru Yokoyama

1

0 references

Paul D P Pharoah

35

Paul D Pharoah

1 reference

9 August 2017

31

Bruce K Armstrong

1 reference

9 August 2017

45

David E Fisher

1 reference

9 August 2017

Jodie Jetann

26

0 references

Lauren Aoude

Lauren G Aoude

4

0 references

Christopher W. Schmidt

Christopher Schmidt

20

0 references

Nicholas Hayward

Nicholas K Hayward

46

0 references

Julia A Newton Bishop

Julia A Newton-Bishop

38

0 references

Anne E Cust

8

Anne E Cust

1 reference

9 August 2017

44

Jeffrey M Trent

1 reference

9 August 2017

24

Helen Schmid

1 reference

9 August 2017

25

Judith A Maskiell

1 reference

9 August 2017

27

Megan Ferguson

1 reference

9 August 2017

10

Mark Harland

1 reference

9 August 2017

Victoria Zismann

6

1 reference

9 August 2017

Michael Gartside

7

1 reference

9 August 2017

Rizwan Haq

9

1 reference

9 August 2017

John C Taylor

11

1 reference

9 August 2017

Kelly Holohan

13

1 reference

9 August 2017

Ken Dutton-Regester

14

1 reference

9 August 2017

Jane M Palmer

15

1 reference

9 August 2017

Judith Symmons

18

1 reference

9 August 2017

Cathy Lanagan

21

1 reference

9 August 2017

Linda O'Connor

22

1 reference

9 August 2017

Elizabeth A Holland

23

1 reference

9 August 2017

Hensin Tsao

43

1 reference

9 August 2017

Kevin M Brown

47

1 reference

9 August 2017

language of work or name

English

0 references

publication date

13 November 2011

1 reference

9 August 2017

1 reference

9 August 2017

480

1 reference

9 August 2017

99-103

1 reference

9 August 2017

7375

1 reference

https://scigraph.springernature.com/pub.10.1038/nature10630

9 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Genome-wide association study identifies three loci associated with melanoma risk

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Frequent mutations in the MITF pathway in melanoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Genome-wide association study of tanning phenotype in a population of European ancestry

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Novel MITF targets identified using a two-step DNA microarray strategy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Common sequence variants on 20q11.22 confer melanoma susceptibility

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Genetic determinants of hair, eye and skin pigmentation in Europeans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Cutaneous malignant melanoma in women. Phenotypic characteristics, sun exposure, and hormonal factors: a case-control study from Italy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Pigmentary characteristics and moles in relation to melanoma risk

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Sumoylation of MITF and its related family members TFE3 and TFEB

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Localization of a novel melanoma susceptibility locus to 1p22

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Cutaneous melanoma in women. I. Exposure to sunlight, ability to tan, and other risk factors related to ultraviolet light

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Melanoma cell invasiveness is regulated by miR-211 suppression of the BRN2 transcription factor.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Increased melanogenesis is a risk factor for oxidative DNA damage--study on cultured melanocytes and atypical nevus cells.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

Cutaneous melanoma in women. II. Phenotypic characteristics and other host-related factors

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266855

A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions

25 September 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Linkage mapping of melanoma (MLM) using 172 microsatellite markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

The Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Microarray expression profiling in melanoma reveals a BRAF mutation signature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

A new mathematical model for relative quantification in real-time RT-PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

TRPM1 forms ion channels associated with melanin content in melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Hereditary melanoma in Australia variable association with dysplastic nevi and

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

Mutation screening of the CDKN2A promoter in melanoma families.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22080950

12 December 2020

inferred from PubMed ID database lookup

Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22080950

12 December 2020

inferred from PubMed ID database lookup

Mutation screening of theCDKN2A promoter in melanoma families

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

7 January 2021

inferred from DOI database lookup

Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10630

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NATURE10630

1 reference

9 August 2017

1 reference

9 August 2017

1 reference