A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism-Reference-Cited by-同舟云学术

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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism

Published:2022-12 Issue: Volume: Page:
ISSN:2352-345X
Container-title:Cellular and Molecular Gastroenterology and Hepatology
language:en
Short-container-title:Cellular and Molecular Gastroenterology and Hepatology

Author:

Sunardi Mukhamad,Ito Keisuke,Sato Yuya,Uesaka Toshihiro,Iwasaki Mitsuhiro,Enomoto Hideki^ORCID

Funder

Japan Society for the Promotion of Science

Government of Japan Ministry of Education Culture Sports Science and Technology

Japan Intractable Diseases Research Foundation

Ichiro Kanehara Foundation for the Promotion of Medical Sciences and Medical Care

Publisher

Elsevier BV

Subject

Gastroenterology,Hepatology

Reference46 articles.

1. Are we underdiagnosing Hirschsprung disease?;Kapur;Pediatr Devel Pathol,2020

2. The GDNF family: signalling, biological functions and therapeutic value;Airaksinen;Nat Rev Neurosci,2002

3. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret;Schuchardt;Nature,1994

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

5. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung’s disease;Romeo;Nature,1994

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1. Contrasting Effects of Cancer-Associated Mutations in EphA3 and EphB2 Kinases;Biochemistry;2024-01-22

2. Research progress, problems, and prospects in the genetic study of Hirschsprung disease;Chinese Science Bulletin;2023-09-01

3. Pcgf1 gene disruption reveals primary involvement of epigenetic mechanism in neuronal subtype specification in the enteric nervous system;Development, Growth & Differentiation;2023-08-18

4. Mice Are Not Small Furry People! A New Hirschsprung Disease Model Lets Us Pretend This Is Not True;Cellular and Molecular Gastroenterology and Hepatology;2023

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