HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial).Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported.
|
22174939 |
2011 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we show oligogenic inheritance of S-HSCR, the 3p21 and 19q12 loci as RET-dependent modifiers, and a parent-of-origin effect at RET.
|
11953745 |
2002 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families.
|
10618407 |
2000 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.
|
10090908 |
1999 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung's disease (HSCR; aganglionosis megacolon).
|
10484767 |
1999 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RET mutations.
|
9384613 |
1998 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The approach of single-strand conformational polymorphism analysis established for all the 20 exons of the RET proto-oncogene, and previously used to screen for point mutations in Hirschsprung patients allowed us to identify seven additional mutations among 39 sporadic and familial cases of Hirschsprung disease (detection rate 18%).
|
9090527 |
1997 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
We suggest that parental imprinting may play a role in the ethiology of HSCR caused by mutations in the RET protooncogene.
|
9259198 |
1997 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Our data indicate that RET and EDNRB mutations have a role in the aetiology of some sporadically occurring HSCR.
|
9094028 |
1997 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
This distinctive feature of RET mutations associated with Hirschsprung's disease and of the RET mutations associated with thyroid cancer indicates a basic biological difference between the mutational events leading to the different phenotypes.
|
9043870 |
1996 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Our data suggest that: (i) the overall frequency of RET mutations in HSCR patients is low and therefore, other genetic and/or environmental determinants contribute to the majority of HSCR susceptibility, and (ii) at present, there is no obvious relationship between RET genotype and HSCR phenotype.
|
7633441 |
1995 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Taken together, the low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR.
|
7581377 |
1995 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A.
|
8114939 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A.
|
8114939 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus.
|
7881414 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Using flanking intronic sequences as primers to amplify 12 of the 20 exons of RET from genomic DNA of 27 Hirschsprung's disease patients, we have now identified four mutations (one frameshift and three missense) that totally disrupt or partially change the structure of the tyrosine kinase domain of the RET protein (Ret).
|
8114938 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.
|
7704557 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|