A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. (Q53086546)

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English	A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Haploinsufficiency

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pancreatic hypoplasia-diabetes-congenital heart disease syndrome

1 reference

based on heuristic

inferred from title

author name string

Shigeru Suzuki

1

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Atsushi Nakao

2

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Ashoor R Sarhat

3

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Akiko Furuya

4

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Kumihiro Matsuo

5

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Yusuke Tanahashi

6

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Hiroki Kajino

7

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

Hiroshi Azuma

8

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

language of work or name

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publication date

5 December 2013

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

164A

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

2

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

476-479

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

GATA6 haploinsufficiency causes pancreatic agenesis in humans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Minireview: transcriptional regulation in pancreatic development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Glycated albumin is lower in infants than in adults and correlated with both age and serum albumin

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36275

21 January 2018

Identifiers

10.1002/AJMG.A.36275

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/24310933

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