scholarly article | Q13442814 |
P356 | DOI | 10.1002/HUMU.22302 |
P8608 | Fatcat ID | release_rvj5qe7fj5bgzluxd67ldnpgwe |
P698 | PubMed publication ID | 23441071 |
P5875 | ResearchGate publication ID | 235730623 |
P50 | author | Domenico Mavilio | Q40296273 |
Isabella Ceccherini | Q54441088 | ||
P2093 | author name string | Man-Ting So | |
Xiaoping Miao | |||
Merce Garcia-Barcelo | |||
Paola Griseri | |||
Roberto Ravazzolo | |||
Ivana Matera | |||
Marco Di Duca | |||
Marco Musso | |||
Marta Rusmini | |||
Paul Hk Tam | |||
P2860 | cites work | Tyrosine kinase receptor RET is a key regulator of Peyer's patch organogenesis | Q28511182 |
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 carcinoma | Q34355050 | ||
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. | Q34411392 | ||
Hirschsprung disease, associated syndromes and genetics: a review | Q34584242 | ||
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression | Q35430801 | ||
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype | Q35440912 | ||
Guidance cues involved in the development of the peripheral autonomic nervous system | Q35826510 | ||
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci | Q37549913 | ||
Genome-wide allele-specific analysis: insights into regulatory variation | Q37766748 | ||
Histone deacetylase inhibitors regulate retinoic acid receptor beta expression in neuroblastoma cells by both transcriptional and posttranscriptional mechanisms | Q40109036 | ||
Expression and function of glial cell line-derived neurotrophic factor family ligands and their receptors on human immune cells | Q40388438 | ||
Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles | Q42678981 | ||
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease | Q42698458 | ||
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease | Q43188332 | ||
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 disease | Q46232266 | ||
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 expression | Q60035815 | ||
High expression of Survivin, mapped to 17q25, is significantly associated with poor prognostic factors and promotes cell survival in human neuroblastoma | Q63874527 | ||
Single-nucleotide polymorphism analysis by pyrosequencing | Q73775865 | ||
P433 | issue | 5 | |
P304 | page(s) | 754-762 | |
P577 | publication date | 2013-03-15 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease | |
P478 | volume | 34 |
Q39000564 | Expression variability and function of the RET gene in adult peripheral blood mononuclear cells |
Q52718716 | Muscularis macrophage development in the absence of an enteric nervous system. |
Q53003994 | TGF-β1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease. |