A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway (Q28302540)

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8 June 2020

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8 June 2020

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8 June 2020

David E Fisher

1 reference

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8 June 2020

Christine Grill

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8 June 2020

Simon N Stacey

1 reference

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8 June 2020

Alexander M Metcalf

1 reference

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Kathleen C Robinson

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8 June 2020

Reuben S Q Kim

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8 June 2020

Kristin Bergsteinsdottir

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Margret H Ogmundsdottir

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Pravin J Mishra

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Agnar S Helgason

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Glenn Merlino

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8 June 2020

Valerie Petit

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Lionel Larue

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8 June 2020

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Ulduz Sobhiafshar

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Andrew S McCallion

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Richard A Sturm

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Eirikur Steingrimsson

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8 June 2020

Kari Stefansson

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8 June 2020

language of work or name

English

0 references

publication date

21 November 2013

0 references

published in

Cell

1 reference

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8 June 2020

volume

155

1 reference

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8 June 2020

issue

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8 June 2020

page(s)

1022-1033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24267888%20AND%20SRC:MED&resulttype=core&format=json

Genetic architecture of skin and eye color in an African-European admixed population

8 June 2020

cites work

1 reference

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20 March 2017

1 reference

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HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

20 March 2017

1 reference

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A rare variant in MYH6 is associated with high risk of sick sinus syndrome

20 March 2017

1 reference

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Web-based, participant-driven studies yield novel genetic associations for common traits

20 March 2017

1 reference

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Multiple common variants for celiac disease influencing immune gene expression

20 March 2017

1 reference

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Molecular genetics of human pigmentation diversity

20 March 2017

1 reference

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

20 March 2017

1 reference

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Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

20 March 2017

1 reference

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

20 March 2017

1 reference

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Genetic determinants of hair, eye and skin pigmentation in Europeans

20 March 2017

1 reference

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The IRF family, revisited

20 March 2017

1 reference

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Expression of the B-cell proliferation marker MUM1 by melanocytic lesions and comparison with S100, gp100 (HMB45), and MelanA

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling

20 March 2017

1 reference

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Structure of IRF-1 with bound DNA reveals determinants of interferon regulation

20 March 2017

1 reference

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Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma

20 March 2017

1 reference

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Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25

20 March 2017

1 reference

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Exploiting synthetic lethality for the therapy of ABC diffuse large B cell lymphoma

20 March 2017

1 reference

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A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

20 March 2017

1 reference

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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

20 March 2017

1 reference

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Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

29 September 2017

1 reference

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Transcriptional control of adipose lipid handling by IRF4

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

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

29 September 2017

1 reference

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Differentiation of Zebrafish Melanophores Depends on Transcription Factors AP2 Alpha and AP2 Epsilon

29 September 2017

1 reference

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

29 September 2017

1 reference

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Parental origin of sequence variants associated with complex diseases

29 September 2017

1 reference

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An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males

29 September 2017

1 reference

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The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

29 September 2017

1 reference

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Detection of sharing by descent, long-range phasing and haplotype imputation

29 September 2017

1 reference

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IRF4 addiction in multiple myeloma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Two newly identified genetic determinants of pigmentation in Europeans

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Melanocytes and the microphthalmia transcription factor network

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: implication of the microphthalmia gene product

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

The validity and practicality of sun-reactive skin types I through VI.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Zebrafish enhancer detection (ZED) vector: A new tool to facilitate transgenesis and the functional analysis ofcis-regulatory regions in zebrafish

2 June 2018

1 reference

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The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Transcription factor IRF4 controls plasma cell differentiation and class-switch recombination.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Cre-mediated recombination in the skin melanocyte lineage.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

p16(Ink4a) in melanocyte senescence and differentiation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873608

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

27 November 2018

1 reference

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The melanocortin-1-receptor gene is the major freckle gene

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24267888

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Requirement for the transcription factor LSIRF/IRF4 for mature B and T lymphocyte function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24267888

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MUM1/IRF4 expression as a frequent event in mature lymphoid malignancies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24267888

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

1 reference

20 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1093/NAR/30.9.E36

RETRACTED: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

1 reference

30 December 2023

https://opencitations.net/index/api/v1/citations/10.1016/J.AJHG.2011.05.009

Identifiers

DOI

10.1016/J.CELL.2013.10.022

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24267888%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24267888%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

24267888

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24267888%20AND%20SRC:MED&resulttype=core&format=json