(Q37441103)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

main subject

Van der Woude syndrome

1 reference

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Elizabeth Leslie

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Youssef A. Kousa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Per Unneberg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Lina Basel-Vanagaite

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Robert A. Cornell

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

11

Jorma Rautio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Myriam Peyrard-Janvid

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Tiffany L Smith

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Martine Dunnwald

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Måns Magnusson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Brian A Lentz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ingegerd Fransson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Hannele K Koillinen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Marie Pegelow

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Agneta Karsten

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

William Gordon

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Bogi Andersen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Thomas Svensson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jeffrey C Murray

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Brian C Schutte

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

19 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

23-32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

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

3 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=3882735

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Evidence for gene-environment interaction in a genome wide study of nonsyndromic 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=3882735

A framework for variation discovery and genotyping using next-generation DNA sequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Fast and accurate long-read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

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=3882735

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

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=3882735

Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

The IRF family transcription factors in immunity and oncogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

High-resolution in situ hybridization to whole-mount zebrafish embryos

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

A homolog of Drosophila grainy head is essential for epidermal integrity 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=3882735

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=3882735

p63 is the molecular switch for initiation of an epithelial stratification program

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

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=3882735

A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

An epidermal barrier wound repair pathway in Drosophila is mediated by grainy head

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Genetic analysis in families with van der Woude syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Grainyhead-like 3, a transcription factor identified in a microarray screen, promotes the specification of the superficial layer of the embryonic epidermis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude 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=3882735

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium 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=3882735

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

A reporter transgene based on a human keratin 6 gene promoter is specifically expressed in the periderm of mouse embryos.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882735

T helper 1 response against Leishmania major in pregnant C57BL/6 mice increases implantation failure and fetal resorptions. Correlation with increased IFN-gamma and TNF and reduced IL-10 production by placental cells

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24360809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.11.009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

24360809

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24360809%20AND%20SRC:MED&resulttype=core&format=json