(Q48417724)

11 February 2018

title

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. (English)

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11 February 2018

Isabella Ceccherini

7

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author name string

Paola Griseri

1

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11 February 2018

Francesca Lantieri

2

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11 February 2018

Francesca Puppo

3

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11 February 2018

Tiziana Bachetti

4

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11 February 2018

Marco Di Duca

5

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11 February 2018

Roberto Ravazzolo

6

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11 February 2018

publication date

1 February 2007

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11 February 2018

published in

Human Mutation

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11 February 2018

volume

28

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11 February 2018

issue

2

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11 February 2018

page(s)

168-176

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11 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

3' Splicing variants of ret receptor tyrosine kinase are differentially expressed in mouse embryos and in adult mice

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20397

Hirschsprung disease, associated syndromes, and genetics: a review

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene

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https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

AU-rich elements and associated factors: are there unifying principles?

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https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

A variation in 3' UTR of hPTP1B increases specific gene expression and associates with insulin resistance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Segregation at three loci explains familial and population risk in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Finding genes that underlie complex traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Critical and distinct roles for key RET tyrosine docking sites in renal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

cDNA Sequence and Genomic Structure of the Rat Ret Proto-Oncogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Modifier genes and protective alleles in humans and mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

32 bp CCR-5 gene deletion and resistance to fast progression in HIV-1 infected heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Apolipoprotein E and Alzheimer's disease: the protective effects of ApoE2 and E3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

The long and short isoforms of Ret function as independent signaling complexes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20397

7 January 2021

Identifiers

DOI

10.1002/HUMU.20397

1 reference

11 February 2018

1 reference

11 February 2018