A case of pancreatic agenesis and congenital heart defects with a novelGATA6nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay-Reference-Cited by-同舟云学术

A case of pancreatic agenesis and congenital heart defects with a novelGATA6nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay

Published:2013-12-05 Issue:2 Volume:164 Page:476-479
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Suzuki Shigeru¹,Nakao Atsushi²,Sarhat Ashoor R.¹³,Furuya Akiko¹,Matsuo Kumihiro¹,Tanahashi Yusuke¹,Kajino Hiroki¹,Azuma Hiroshi¹

Affiliation:

1. Department of Pediatrics; Asahikawa Medical University; Asahikawa Japan

2. Department of Neonatology; Japanese Red Cross Medical Center; Tokyo Japan

3. Department of Pediatrics; Tikrit College of Medicine; Tikrit Iraq

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36275/fullpdf

Reference16 articles.

1. Neonatal diabetes mellitus;Aguilar-Bryan;Endocr Rev,2008

2. GATA6 haploinsufficiency causes pancreatic agenesis in humans;Allen;Nat Genet,2012

3. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes;Bonnefond;Diabetologia,2012

4. GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency;De Franco;Diabetes,2013

5. Minireview: Transcriptional regulation in pancreatic development;Habener;Endocrinology,2005

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