(Q50489618)

14 March 2018

title

Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. (English)

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14 March 2018

author

Richard A Sturm

1

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14 March 2018

Gloria Ribas Despuig

8

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David L. Duffy

10

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14 March 2018

author name string

Carly Fox

2

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14 March 2018

Phil McClenahan

3

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14 March 2018

Kasturee Jagirdar

4

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14 March 2018

Maider Ibarrola-Villava

5

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Parastoo Banan

6

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14 March 2018

Nicola C Abbott

7

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Brian Gabrielli

9

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H Peter Soyer

11

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language of work or name

English

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publication date

17 June 2013

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14 March 2018

Journal of Investigative Dermatology

published in

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14 March 2018

volume

134

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issue

1

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14 March 2018

page(s)

141-149

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14 March 2018

https://scigraph.springernature.com/pub.10.1038/jid.2013.272

exact match

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cites work

Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

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12 December 2020

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

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12 December 2020

Role for microphthalmia transcription factor in the diagnosis of metastatic malignant melanoma

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Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

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

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12 December 2020

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

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12 December 2020

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

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Inverse expression states of the BRN2 and MITF transcription factors in melanoma spheres and tumour xenografts regulate the NOTCH pathway

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12 December 2020

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

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12 December 2020

Dermoscopy, reflectance confocal microscopy and histopathology of an amelanotic melanoma from an individual heterozygous for MC1R and tyrosinase variant alleles.

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12 December 2020

Frequent mutations in the MITF pathway in melanoma

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12 December 2020

Mitf is the key molecular switch between mouse or human melanoma initiating cells and their differentiated progeny.

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12 December 2020

Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation

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12 December 2020

MiTF regulates cellular response to reactive oxygen species through transcriptional regulation of APE-1/Ref-1

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12 December 2020

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

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12 December 2020

Hypoxia-induced transcriptional repression of the melanoma-associated oncogene MITF.

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Clinicopathologic features of incident and subsequent tumors in patients with multiple primary cutaneous melanomas

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12 December 2020

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

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12 December 2020

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

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12 December 2020

Hypoxia and MITF control metastatic behaviour in mouse and human melanoma cells

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12 December 2020

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

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Melanoma genetics: recent findings take us beyond well-traveled pathways

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12 December 2020

Amelanotic melanomas presenting as red skin lesions: a diagnostic challenge with potentially lethal consequences

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Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

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Hazard-rate analysis and patterns of recurrence in early stage melanoma: moving towards a rationally designed surveillance strategy

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Dermoscopic naevus patterns in people at high versus moderate/low melanoma risk in Queensland

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Clinical and dermoscopic characteristics of amelanotic melanomas that are not of the nodular subtype.

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Critical role of CDK2 for melanoma growth linked to its melanocyte-specific transcriptional regulation by MITF

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CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma

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12 December 2020

The dermoscopical and histopathological patterns of nevi correlate with the frequency of BRAF mutations.

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12 December 2020

Predominant dermoscopic patterns observed among nevi

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12 December 2020

Melanocortin MC₁ receptor in human genetics and model systems

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12 December 2020

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

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12 December 2020

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

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12 December 2020

Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.

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12 December 2020

BRCA1 is a new MITF target gene.

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12 December 2020

"White" nevi and "red" melanomas: association with the RHC phenotype of the MC1R gene.

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12 December 2020

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

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12 December 2020

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

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12 December 2020

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

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12 December 2020

Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations

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12 December 2020

Quantifying the Orientation of Acquired Melanocytic Nevi on the Back

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12 December 2020

Identifiers

DOI

10.1038/JID.2013.272

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14 March 2018

Dimensions Publication ID

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14 March 2018