(Q37708384)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects (English)

1 reference

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5 March 2020

14

1 reference

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5 March 2020

Walid D Fakhouri

1

1 reference

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5 March 2020

Catia Attanasio

3

1 reference

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5 March 2020

Youssef A. Kousa

10

1 reference

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5 March 2020

Elizabeth Leslie

11

1 reference

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5 March 2020

Hans van Bokhoven

13

1 reference

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5 March 2020

12

Len A Pennacchio

1 reference

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5 March 2020

2

Fedik Rahimov

1 reference

5 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

Evelyn N Kouwenhoven

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Renata L Ferreira De Lima

5

1 reference

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5 March 2020

Temis Maria Felix

6

1 reference

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5 March 2020

Larissa Nitschke

7

1 reference

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5 March 2020

David Huver

8

1 reference

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5 March 2020

Julie Barrons

9

1 reference

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5 March 2020

Huiqing Zhou

15

1 reference

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5 March 2020

Jeffrey C Murray

16

1 reference

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5 March 2020

Brian C Schutte

17

1 reference

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5 March 2020

publication date

16 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

published in

Human Molecular Genetics

1 reference

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5 March 2020

volume

23

1 reference

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5 March 2020

issue

10

1 reference

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5 March 2020

page(s)

2711-2720

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

A high-resolution enhancer atlas of the developing telencephalon

5 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Genome-wide analysis of p63 binding sites identifies AP-2 factors as co-regulators of epidermal differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

A conserved Pbx-Wnt-p63-Irf6 regulatory module controls face morphogenesis by promoting epithelial apoptosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

IRF6 is a mediator of Notch pro-differentiation and tumour suppressive function in keratinocytes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Cleft lip and palate: understanding genetic and environmental influences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Finding the missing heritability of complex diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Genomic views of distant-acting enhancers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Cis-regulatory mutations in human disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

p63 is a p53 homologue required for limb and epidermal morphogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Relationships between p63 binding, DNA sequence, transcription activity, and biological function in human cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Genetic analysis in families with van der Woude syndrome.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990169

Proliferation, cell cycle exit, and onset of terminal differentiation in cultured keratinocytes: pre-programmed pathways in control of C-Myc and Notch1 prevail over extracellular calcium signals

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24442519

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT664

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

PubMed publication ID

24442519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24442519%20AND%20SRC:MED&resulttype=core&format=json