Literature DB >> 19521704

Genetic basis of Hirschsprung's disease.

Paul K H Tam1, Mercè Garcia-Barceló.   

Abstract

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in light of the molecular and cellular events that take place during the ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process, and represent a primary etiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.

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Year:  2009        PMID： 19521704     DOI： 10.1007/s00383-009-2402-2

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN： 0179-0358            Impact factor:   1.827


  173 in total

1.  Localization and endothelin-3 dependence of stem cells of the enteric nervous system in the embryonic colon.

Authors:  Emma L Sidebotham; Mark N Woodward; Simon E Kenny; David A Lloyd; Camille R Vaillant; David H Edgar
Journal:  J Pediatr Surg       Date:  2002-02       Impact factor: 2.545

2.  Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

Authors:  Guido Fitze; Jakob Cramer; Andreas Ziegler; Mandy Schierz; Matthias Schreiber; Eberhard Kuhlisch; Dietmar Roesner; Hans K Schackert
Journal:  Lancet       Date:  2002-04-06       Impact factor: 79.321

3.  A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Authors:  Salud Borrego; Fred A Wright; Raquel M Fernández; Nita Williams; Manuel López-Alonso; Ramana Davuluri; Guillermo Antiñolo; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-12-09       Impact factor: 11.025

4.  Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Authors:  P Cerruti Mainardi; G Pastore; C Zweier; A Rauch
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

5.  SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Authors:  V Pingault; N Bondurand; K Kuhlbrodt; D E Goerich; M O Préhu; A Puliti; B Herbarth; I Hermans-Borgmeyer; E Legius; G Matthijs; J Amiel; S Lyonnet; I Ceccherini; G Romeo; J C Smith; A P Read; M Wegner; M Goossens
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

6.  Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

Authors:  R Gath; A Goessling; K M Keller; S Koletzko; W Coerdt; H Müntefering; S Wirth; R M Hofstra; L Mulligan; C Eng; A von Deimling
Journal:  Gut       Date:  2001-05       Impact factor: 23.059

7.  Identifying candidate Hirschsprung disease-associated RET variants.

Authors:  Grzegorz M Burzynski; Ilja M Nolte; Agnes Bronda; Krista K Bos; Jan Osinga; Ivan Plaza Menacho; Bas Twigt; Saskia Maas; Alice S Brooks; Joke B G M Verheij; Charles H C M Buys; Robert M W Hofstra
Journal:  Am J Hum Genet       Date:  2005-03-09       Impact factor: 11.025

8.  Is there a role for the IHH gene in Hirschsprung's disease?

Authors:  M-M Garcia-Barceló; W-S Lee; M-H Sham; V C-H Lui; P K-H Tam
Journal:  Neurogastroenterol Motil       Date:  2003-12       Impact factor: 3.598

9.  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.

Authors:  Grzegorz M Burzynski; Ilja M Nolte; Jan Osinga; Isabella Ceccherini; Bas Twigt; Saskia Maas; Alice Brooks; Joke Verheij; Ivan Plaza Menacho; Charles H C M Buys; Robert M W Hofstra
Journal:  Eur J Hum Genet       Date:  2004-08       Impact factor: 4.246

10.  Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus.

Authors:  Maria-Mercè Garcia-Barceló; Danny Ko-chun Lau; Elly Sau-wai Ngan; Thomas Yuk-yu Leon; Ting-ting Liu; Man-ting So; Xiao-ping Miao; Vincent Chi-hang Lui; Kenneth Kak-yuen Wong; Raymond William Ganster; Daniel Thomas Cass; Geoffrey David Hain Croaker; Paul Kwong-hang Tam
Journal:  Ann Hum Genet       Date:  2007-07-19       Impact factor: 1.670
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  37 in total

Review 1.  Genetic interactions and modifier genes in Hirschsprung's disease.

Authors:  Adam S Wallace; Richard B Anderson
Journal:  World J Gastroenterol       Date:  2011-12-07       Impact factor: 5.742

Review 2.  Coat color and coat color pattern-related neurologic and neuro-ophthalmic diseases.

Authors:  Aubrey A Webb; Cheryl L Cullen
Journal:  Can Vet J       Date:  2010-06       Impact factor: 1.008

3.  Analysis of early human neural crest development.

Authors:  Erin Betters; Ying Liu; Anders Kjaeldgaard; Erik Sundström; Martín I García-Castro
Journal:  Dev Biol       Date:  2010-05-15       Impact factor: 3.582

Review 4.  Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

Authors:  Johannes W Duess; Prem Puri
Journal:  Pediatr Surg Int       Date:  2015-07-09       Impact factor: 1.827

5.  Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease.

Authors:  Yuanyuan Luo; Shuangshuang Li; Yinping Teng; Ning Wang; Li Li; Hang Liu; Xianqing Jin
Journal:  Int J Clin Exp Pathol       Date:  2015-04-01

6.  Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Authors:  Clara Sze-Man Tang; Hongsheng Gui; Ashish Kapoor; Jeong-Hyun Kim; Berta Luzón-Toro; Anna Pelet; Grzegorz Burzynski; Francesca Lantieri; Man-Ting So; Courtney Berrios; Hyoung Doo Shin; Raquel M Fernández; Thuy-Linh Le; Joke B G M Verheij; Ivana Matera; Stacey S Cherny; Priyanka Nandakumar; Hyun Sub Cheong; Guillermo Antiñolo; Jeanne Amiel; Jeong-Meen Seo; Dae-Yeon Kim; Jung-Tak Oh; Stanislas Lyonnet; Salud Borrego; Isabella Ceccherini; Robert M W Hofstra; Aravinda Chakravarti; Hyun-Young Kim; Pak Chung Sham; Paul K H Tam; Maria-Mercè Garcia-Barceló
Journal:  Hum Mol Genet       Date:  2016-12-01       Impact factor: 6.150

7.  Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.

Authors:  Jun Yang; Shengyu Duan; Rong Zhong; Jieyun Yin; Jiarui Pu; Juntao Ke; Xuzai Lu; Li Zou; Hongmei Zhang; Zhidong Zhu; Depeng Wang; Huasheng Xiao; Anyuan Guo; Jiahong Xia; Xiaoping Miao; Shaotao Tang; Guobin Wang
Journal:  Mol Neurobiol       Date:  2013-01-12       Impact factor: 5.590

8.  The down-regulation of neuroligin-2 and the correlative clinical significance of serum GABA over-expression in Hirschsprung's disease.

Authors:  Hongchao Yang; Jianyi Niu; Jian Wang; Fan Zhang; Qiangye Zhang; Wentong Zhang; Aiwu Li
Journal:  Neurochem Res       Date:  2014-05-20       Impact factor: 3.996

Review 9.  Prevalence of Hirschsprung's disease in premature infants: a systematic review.

Authors:  Johannes W Duess; Alejandro D Hofmann; Prem Puri
Journal:  Pediatr Surg Int       Date:  2014-07-02       Impact factor: 1.827

10.  Prospective identification and culture of rat enteric neural stem cells (ENSCs).

Authors:  Tingting Gao; Haijiao Chen; Mei Liu; Wenliang Ge; Qiyou Yin
Journal:  Cytotechnology       Date:  2014-11-19       Impact factor: 2.058
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