|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Receptor rearranged during transfection (RET) gene variants are the most commonly recognized genetic associations with Hirschsprung disease.
|
30843358 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.
|
30031151 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Disease risk of HSCR is increased by the combination of specific RET and NRG1 susceptibility variants.
|
30502294 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the clinical and molecular spectrum of RET variants in HSCR and reveal a high frequency of RET DNVs in the Chinese population.
|
31666091 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long-segment Hirschsprung disease) and older daughter (total colonic aganglionosis).
|
31609069 |
2019 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Conversely RET involvement in HSCR does not seem to rely on the presence of CNVs while, interestingly, several gains and losses did co-occur with another RET defect, thus confirming that more than one predisposing event is necessary for HSCR to develop.
|
31767031 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a HSCR family, the father passed on a pathogenic RET frameshift to two daughters; however, only one developed HSCR.
|
31240788 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hirschsprung disease (HSCR), a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes.
|
31313802 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056T > C; genotype TT, OR = 17.31, P = 1.462 × 10<sup>-21</sup>).
|
30031151 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
When altered, RET mutations influence disease in a variety of organ systems from Hirschsprung's disease and multiple endocrine neoplasia 2 (MEN2) to papillary thyroid carcinoma (PTC) and non-small cell lung cancer (NSCLC).
|
31715421 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Medical records and laboratory reports of carriers were reviewed for signs of MEN2A at latest follow-up (medullary thyroid carcinoma, primary hyperparathyroidism, pheochromocytoma, cutaneous lichen amyloidosis, or Hirschsprung's disease).
|
30644554 |
2019 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although the picture is complex, recent associations between specific RET proto-oncogene variations have been shown to be significant in Down syndrome patients with Hirschsprung disease, as they probably interfere with vital RET functions in the development of the autonomic and enteric nervous systems, increasing the risk of disturbed normal function.
|
30218169 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
|
29601828 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a new RET gene mutation causing HSCR and successfully established a human iPSC line from an HSCR patient carrying this novel RET mutation, which could be useful in pathogenesis studies of HSCR.
|
29965875 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most common known underlying genetic alterations are in the RET gene but HSCR can also be caused by mutations in other genes that are responsible for the maturation and migration of intestinal neural cells.
|
30056070 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
|
29379196 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While the association of this variant with MTC or MEN2A has been never reported, it has been described in association with Hirschsprung's disease.
|
30072953 |
2018 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.
|
30693022 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations of the RET gene are underrecognized in HSCR.
|
29261189 |
2018 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results support the association between genetic variation of RET and NRG1 and susceptibility to HSCR in the Chinese population.
|
28256518 |
2017 |
|
Hirschsprung Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
|
29020875 |
2017 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis).
|
28342760 |
2017 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Exon 10 RET mutations are known to be associated with HSCR and MEN2.
|
27704398 |
2017 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
|
28433712 |
2017 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.
|
28799054 |
2017 |