Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation inRFX6-Reference-Cited by-同舟云学术

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation inRFX6

Published:2013-08-05 Issue:1 Volume:15 Page:67-72
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Concepcion Jennifer P¹,Reh Christina S¹,Daniels Mark¹,Liu Xiaoming²,Paz Veronica P³,Ye Honggang³,Highland Heather M²,Hanis Craig L²,Greeley Siri Atma W³

Affiliation:

1. Children's Hospital of Orange County (CHOC); University of California (UC) Irvine; Orange CA USA

2. Human Genetics Center; The University of Texas Health Science Center at Houston; Houston TX USA

3. Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism; Kovler Diabetes Center, The University of Chicago; Chicago IL USA

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12063/fullpdf

Reference24 articles.

1. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births;Slingerland;Diabetologia,2009

2. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment;Greeley;Curr Diab Rep,2011

3. Identification and characterization of novel human tissue-specific RFX transcription factors;Aftab;BMC Evol Biol,2008

4. Transcribing neonatal diabetes mellitus;Scharfmann;N Engl J Med,2010

5. Rfx6 directs islet formation and insulin production in mice and humans;Smith;Nature,2010

Cited by 57 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1+/NKX6.1+ progenitors;Diabetologia;2024-07-30

2. RFX6 regulates human intestinal patterning and function upstream of PDX1;Development;2024-05-01

3. Deletion of RFX6, a Diabetes-Associated Gene, Impairs iPSC-Derived Islet Organoid Development and Survival, With No Impact on the Generation of PDX1+/NKX6.1+ Progenitors;2024-03-11

4. Human RFX6 regulates endoderm patterning at the primitive gut tube stage;PNAS Nexus;2023-12-21

5. Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management;Frontiers in Genetics;2023-12-14