A common haplotype at the 5′ end of theRETproto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression-Reference-Cited by-同舟云学术

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A common haplotype at the 5′ end of theRETproto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

Published:2005-01-10 Issue:2 Volume:25 Page:189-195
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Griseri Paola¹,Bachetti Tiziana¹,Puppo Francesca¹,Lantieri Francesca¹,Ravazzolo Roberto¹²,Devoto Marcella³⁴,Ceccherini Isabella¹

Affiliation:

1. Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy

2. Dipartimento di Pediatria, Istituto G. Gaslini and CEBR (Centro di Eccellenza) Università di Genova, Genova, Italy

3. Dipartimento di Oncologia, Biologia e Genetica, Università di Genova, Genova, Italy

4. Department of Research, Nemours Children's Clinic, Wilmington, Delaware

Funder

European Community

Compagnia di San Paolo

Ricerca Finalizzata of Ministery of Health and Ministry of University

Fondazione Italiana per la Ricerca sul Cancro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.20135

Reference25 articles.

1. Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

2. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

3. Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

4. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

5. 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

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2. Causative and commonPHOX2Bvariants define a broad phenotypic spectrum;Clinical Genetics;2019-08-30

3. What is new about the genetic background of Hirschsprung disease?;Clinical Genetics;2019-08-05

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