(Q84966032)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

popliteal pterygium syndrome

13 February 2020

main subject

1 reference

based on heuristic

inferred from title

multiple pterygium syndrome

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20803643

3 July 2024

8

Norio Niikawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

9

Koh-Ichiro Yoshiura

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

5

Motoi Nakano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1

Noriko Matsuzawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

3

Kazuo Shimozato

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

2

Shinji Kondo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

6

Masayoshi Tsuda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Toru Nagao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Akiyoshi Hirano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Koh-Ichiro Yoshiura

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20803643

3 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20803643

3 July 2024

publication date

1 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

13 February 2020

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33338

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33338

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33338

3 July 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33338

American Journal of Medical Genetics

3 July 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

152A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

2262-2267

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

Mammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnership

13 February 2020

cites work

https://api.crossref.org/works/10.1002/AJMG.A.33338

1

1 reference

Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

2

1 reference

Phenotypic variation in the popliteal pterygium syndrome

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

3

1 reference

Familial incidence of labial pits

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

4

1 reference

A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

5

1 reference

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

6

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

7

1 reference

Popliteal pterygium syndrome

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

8

1 reference

The role of interferon regulatory factors in the interferon system and cell growth control

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

10

1 reference

Recurrent trismus: twenty-year follow-up result

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

11

1 reference

Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP gene

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

12

1 reference

Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

13

1 reference

Intrafamilial variability of popliteal pterygium syndrome: a family description

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

14

1 reference

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

15

1 reference

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

16

1 reference

Deficiency in the transcription factor interferon regulatory factor (IRF)-2 leads to severely compromised development of natural killer and T helper type 1 cells

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

17

1 reference

Interferon regulatory factors: the next generation

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

18

1 reference

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

19

1 reference

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

20

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

21

1 reference

The Van der Woude syndrome (dominantly inherited lip pits and clefts).

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

22

1 reference

Triggering the interferon antiviral response through an IKK-related pathway

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

23

1 reference

An IRF-1-dependent pathway of DNA damage-induced apoptosis in mitogen-activated T lymphocytes

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

24

1 reference

Identification of IRF6 gene variants in three families with Van der Woude syndrome

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

25

1 reference

Cellular commitment to oncogene-induced transformation or apoptosis is dependent on the transcription factor IRF-1.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

26

1 reference

IRF family of transcription factors as regulators of host defense

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

27

1 reference

Novel mutations in the IRF6 gene for Van der Woude syndrome

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33338

28

1 reference

3 July 2024

Identifiers

DOI

10.1002/AJMG.A.33338

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20803643%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference