Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant-Reference-Cited by-同舟云学术

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

Published:2019-04 Issue:4 Volume:62 Page:229-234
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Virtanen Valtter B.,Salo Perttu P.^ORCID,Cao Jia,Löf-Granström Anna,Milani Lili,Metspalu Andres,Rintala Risto J.,Saarenpää-Heikkilä Outi,Paunio Tiina^ORCID,Wester Tomas,Nordenskjöld Agneta,Perola Markus^ORCID,Pakarinen Mikko P.

Funder

Helsinki University Central Hospital

Sigrid Jusélius Foundation

Finnish Pediatric Research Foundation

BBMRI-LPC

MIMOmics

Finnish Academy

Yrjö Jahnsson Foundation, Academy of Finland

Signe and Ane Gyllenberg Foundation

Juho Vainio Foundation

Foundation Frimurarna, Stockholm, Sweden

Estonian Research Council

European Regional Development Fund

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. Hirschsprung disease, associated syndromes and genetics: a review;Amiel;J. Med. Genet.,2008

2. Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association;Arnold;Hum. Mutat.,2009

3. Hirschsprung's disease prevalence in Europe: a register based study;Best;Birth Defects Res A Clin Mol Teratol,2014

4. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2;Burzynski;Eur. J. Hum. Genet.,2004

5. Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial Hirschsprung disease liability;Emison;Am. J. Hum. Genet.,2010

Cited by 12 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. Downregulation of miR-144 blocked the proliferation and invasion of nerve cells in Hirschsprung disease by regulating Transcription Factor AP 4 (TFAP4);Pediatric Surgery International;2023-08-23

2. Combined GWAS and single cell transcriptomics uncover the underlying genes and cell types in disorders of gut-brain interaction;2023-06-05

3. Genetics of Hirschsprung’s disease;Pediatric Surgery International;2023-02-07

4. Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease’s Patients?;Frontiers in Pediatrics;2022-03-10

5. Circ-ITCH overexpression promoted cell proliferation and migration in Hirschsprung disease through miR-146b-5p/RET axis;Pediatric Research;2022-01-28