Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease

scientific article published on 15 March 2013

Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.22302
P8608Fatcat IDrelease_rvj5qe7fj5bgzluxd67ldnpgwe
P698PubMed publication ID23441071
P5875ResearchGate publication ID235730623

P50authorDomenico MavilioQ40296273
Isabella CeccheriniQ54441088
P2093author name stringMan-Ting So
Xiaoping Miao
Merce Garcia-Barcelo
Paola Griseri
Roberto Ravazzolo
Ivana Matera
Marco Di Duca
Marco Musso
Marta Rusmini
Paul Hk Tam
P2860cites workTyrosine kinase receptor RET is a key regulator of Peyer's patch organogenesisQ28511182
Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.Q30481679
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).Q34326028
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 carcinomaQ34355050
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Q34411392
Hirschsprung disease, associated syndromes and genetics: a reviewQ34584242
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expressionQ35430801
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotypeQ35440912
Guidance cues involved in the development of the peripheral autonomic nervous systemQ35826510
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory lociQ37549913
Genome-wide allele-specific analysis: insights into regulatory variationQ37766748
Histone deacetylase inhibitors regulate retinoic acid receptor beta expression in neuroblastoma cells by both transcriptional and posttranscriptional mechanismsQ40109036
Expression and function of glial cell line-derived neurotrophic factor family ligands and their receptors on human immune cellsQ40388438
Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of allelesQ42678981
Association of RET protooncogene codon 45 polymorphism with Hirschsprung diseaseQ42698458
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's diseaseQ43188332
Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.Q43776188
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's diseaseQ46232266
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).Q47403537
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.Q50748616
A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionQ60035815
High expression of Survivin, mapped to 17q25, is significantly associated with poor prognostic factors and promotes cell survival in human neuroblastomaQ63874527
Single-nucleotide polymorphism analysis by pyrosequencingQ73775865
P433issue5
P304page(s)754-762
P577publication date2013-03-15
P1433published inHuman MutationQ5937269
P1476titleAllele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease
P478volume34

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cites work (P2860)
Q39000564Expression variability and function of the RET gene in adult peripheral blood mononuclear cells
Q52718716Muscularis macrophage development in the absence of an enteric nervous system.
Q53003994TGF-β1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease.