PMID: 9556091Apr 29, 1998Paper

Hirschsprung's disease genes and the development of the enteric nervous system

Annals of Medicine
K WartiovaaraH Sariola

Abstract

Hirschsprung's disease or aganglionic megacolon causes chronic, congenital obstipation at an incidence of 1 per 5000 live births. Two approaches have been vital to the present understanding of the pathogenesis and genetic background of the disease: disease linkage analyses and mouse models of aganglionic megacolon. Because the increasing number of transgenic or natural mouse strains with congenital megacolon has led to mutation screening in Hirschsprung's disease patients, almost every second patient could now receive a genetic explanation for his/her disease. The known disease genes include tyrosine kinase receptor Ret, endothelin receptor B and its ligand endothelin 3. In addition, mutations have been found in the gene encoding the glial cell line-derived neurotrophic factor, the ligand for Ret, but these may only have a modifier effect. The mouse models have also provided insight into the developmental mechanisms of the normal intestinal innervation. We combine here the present clinical data on the gene mutations in Hirschsprung's disease with the experimental molecular biology data, and formulate a hypothesis on the pathogenesis of this multigenic-multifactorial disease.

References

Jul 31, 1991·Biochemical and Biophysical Research Communications·A SakamotoT Masaki
Mar 1, 1990·Clinical Genetics·A H LipsonC A Oley
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·A InoueT Masaki
Dec 1, 1985·Clinical Genetics·K L GarverB Garver
Sep 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·M YanagisawaK Goto
Aug 1, 1988·Journal of the American Academy of Dermatology·J L Bolognia, J M Pawelek
Sep 1, 1987·Clinical Genetics·A H Lipson, J Harvey
Jan 1, 1982·Journal of Pediatric Gastroenterology and Nutrition·M VerdyP Brochu
Nov 1, 1984·The Journal of Heredity·P W Lane, H M Liu
Apr 1, 1981·Journal of Medical Genetics·C O CarterV Hickman
May 1, 1995·Human Molecular Genetics·M AngristA Chakravarti
May 1, 1995·Nature Genetics·B PasiniR Bocciardi
Jul 1, 1993·Human Molecular Genetics·H Donis-KellerS A Wells
Apr 25, 1996·The New England Journal of Medicine·R K Goyal, I Hirano
Dec 1, 1995·Human Molecular Genetics·T AttiéS Lyonnet
Jun 27, 1996·Nature·P DurbecM Saarma
Jul 4, 1996·Nature·M W MooreA Rosenthal
Jul 4, 1996·Nature·J J TreanorA Rosenthal
Feb 1, 1996·Current Opinion in Genetics & Development·Y F Mak, B A Ponder

❮ Previous
Next ❯

Citations

Feb 27, 2001·Mass Spectrometry Reviews·J Godovac-Zimmermann, L R Brown
Dec 6, 2000·Current Opinion in Pediatrics·M A Parisi, R P Kapur
Jul 15, 2015·Pediatric Surgery International·C Tomuschat, P Puri
Jul 17, 1999·Critical Reviews in Clinical Laboratory Sciences·R P Kapur
Feb 22, 2002·American Journal of Medical Genetics·Melissa A ParisiKathleen A Leppig
Jul 23, 2008·Developmental Disabilities Research Reviews·Muhammad A Altaf, Manu R Sood
Jun 26, 1999·Microscopy Research and Technique·M Saarma, H Sariola
Apr 1, 2000·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·F V White, J C Langer
Sep 26, 2000·Molecular Genetics and Metabolism·K M Dipple, E R McCabe
Mar 6, 1999·Molecular Genetics and Metabolism·P Mora-Garcia, K M Sakamoto

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Signaling by Tyrosine Kinases

Receptor tyrosine kinases (RTKs) are the high-affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. RTKs have been shown not only to be key regulators of normal cellular processes but also to have a critical role in the development and progression of many types of cancer. Discover the latest research on cell signaling and RTK here.

Related Papers

The Journal of Medical Investigation : JMI
Raisa KhropychevaVasiliy Zolotarev
Comparative Biochemistry and Physiology. C, Comparative Pharmacology and Toxicology
P ShonnardK M Sanders
American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
Monika Sundqvist, Susanne Holmgren
Comparative Biochemistry and Physiology. Part C, Pharmacology, Toxicology & Endocrinology
G E Knight, G Burnstock
© 2022 Meta ULC. All rights reserved