Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability (Q33960467)

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6 February 2020

title

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability (English)

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Eileen Sproat Emison

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Merce Garcia-Barcelo

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Elizabeth A Grice

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Francesca Lantieri

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Grzegorz Burzynski

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Raquel M Fernandez

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Li Hao

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Carl Kashuk

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Kristen West

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Xiaoping Miao

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Paola Griseri

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Alexandra Henrion-Caude

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Joke B G M Verheij

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Guillermo Antiñolo

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Salud Borrego

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Andrew S McCallion

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Aravinda Chakravarti

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language of work or name

English

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publication date

1 July 2010

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American Journal of Human Genetics

6 February 2020

published in

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volume

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issue

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page(s)

60-74

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Copy number variation in human health, disease, and evolution

6 February 2020

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5 July 2018

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Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

5 July 2018

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Basal laminar drusen caused by compound heterozygous variants in the CFH gene

5 July 2018

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Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

5 July 2018

1 reference

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Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

5 July 2018

1 reference

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

5 July 2018

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Are rare variants responsible for susceptibility to complex diseases?

5 July 2018

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A New Statistical Method for Haplotype Reconstruction from Population Data

5 July 2018

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Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

5 July 2018

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The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences

5 July 2018

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Protein zero gene expression is regulated by the glial transcription factor Sox10

5 July 2018

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Ultraviolet light induces redox reaction-mediated dimerization and superactivation of oncogenic Ret tyrosine kinases

5 July 2018

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

5 July 2018

1 reference

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Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

5 July 2018

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5 July 2018

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Identification of two Sox17 messenger RNA isoforms, with and without the high mobility group box region, and their differential expression in mouse spermatogenesis

5 July 2018

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Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Loss of function effect of RET mutations causing Hirschsprung disease.

29 October 2018

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Genetics of common disorders

29 October 2018

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12 December 2020

GOLD--graphical overview of linkage disequilibrium

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12 December 2020

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12 December 2020

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

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Identifiers

DOI

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6 February 2020

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6 February 2020

PubMed publication ID

20598273

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json