Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes (Q24600400)

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12 November 2019

title

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes (English)

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12 November 2019

1 reference

Rebecca J. Richardson

3

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12 November 2019

Sandra Daack-Hirsch

9

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12 November 2019

Mauricio Arcos-Burgos

19

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12 November 2019

Donna M McDonald-McGinn

11

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Donna M McDonald-McGinn

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12 November 2019

Antonio Richieri-Costa

24

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Antonio Richieri-Costa

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21

Claude Houdayer

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12 November 2019

author name string

Shinji Kondo

1

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Brian C Schutte

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Bryan C Bjork

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Alexandra S Knight

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Yoriko Watanabe

6

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Emma Howard

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Renata L L Ferreira de Lima

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Achim Sander

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Elaine H Zackai

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Edward J Lammer

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Arthur S Aylsworth

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Holly H Ardinger

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Andrew C Lidral

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Barbara R Pober

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Lina Moreno

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Consuelo Valencia

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Michel Bahuau

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Danilo Moretti-Ferreira

23

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Michael J Dixon

25

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Jeffrey C Murray

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language of work or name

English

0 references

publication date

3 September 2002

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12 November 2019

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12 November 2019

volume

32

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issue

2

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12 November 2019

page(s)

285-289

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Fistula labii inferioris congenita and its association with cleft lip and palate

12 November 2019

cites work

1 reference

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

7 April 2017

1 reference

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

7 April 2017

1 reference

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Essential role of interferon regulatory factor 3 in direct activation of RANTES chemokine transcription

7 April 2017

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Signal Transduction and the Control of Gene Expression

7 April 2017

1 reference

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

7 April 2017

1 reference

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IRF family of transcription factors as regulators of host defense

7 April 2017

1 reference

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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

7 April 2017

1 reference

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Analysis of functional domains of interferon regulatory factor 7 and its association with IRF-3

7 April 2017

1 reference

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

7 April 2017

1 reference

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

7 April 2017

1 reference

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Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction

7 April 2017

1 reference

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Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169431

TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes

7 April 2017

1 reference

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Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32

7 April 2017

1 reference

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Interferon regulatory factors: the next generation

27 September 2017

1 reference

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Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

27 September 2017

1 reference

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In situ hybridization analysis of chick embryos in whole mount and tissue sections.

27 September 2017

1 reference

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Transforming growth factor-beta 3 is required for secondary palate fusion

27 September 2017

1 reference

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Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

27 September 2017

1 reference

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Functional analysis of activins during mammalian development.

27 September 2017

1 reference

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Conserved transactivation domain shared by interferon regulatory factors and Smad morphogens.

27 September 2017

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Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome

30 May 2018

1 reference

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Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.

30 May 2018

1 reference

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Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome

30 May 2018

1 reference

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30 May 2018

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Lip pits and deletion 1q32----41

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12219090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Thoughts on the etiology of clefts of the palate and lip

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12219090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variation in the popliteal pterygium syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12219090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG985

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12219090%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

12 November 2019

1009652829

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12219090%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

12219090

2 references