|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Inactivating mutations of the RET proto-oncogene and of one of its soluble ligand molecules, glial cell line derived neurotrophic factor (GDNF), have been found in a subset of patients with Hirschsprung disease (HSCR).
|
10204848 |
1999 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to screen a panel of 16 cases of familial idiopathic slow-transit constipation, including 4 families in which there were relatives with Hirschsprung's disease, for RET and glial cell-derived neurotrophic factor mutations previously identified in Hirschsprung's disease.
|
10859088 |
2000 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, the glial cell line-derived neurotrophic factor (GDNF) was identified as one of the ligands of the RET, and GDNF (5p12-p13.1) mutations were also found in association with RET mutations in HSCR patients.
|
11371032 |
2001 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Targeted mutagenesis in transgenic mice has shown that Ret, GFR alpha 1 and GDNF are required for multiple developmental events including development of the enteric nervous system (ENS) affected in Hirschsprung's disease.
|
10812967 |
2000 |
|
Hirschsprung Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Compared to the controls, elevated expression of EDNRB and GDNF was determined in BAC-induced aganglionic megacolon mice with partially improved intestinal function.
|
23512482 |
2013 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GDNF sequence variants including R93W have been suggested previously to represent low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in 376 control alleles studied by others.
|
9215674 |
1997 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations of genes such as GDNF and RET lead to the perturbation of this signaling pathway, which causes HSCR.
|
12065680 |
2002 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
As Gdnf and Ret have been linked to the development of Hirschsprung disease (HSCR), it seems likely that Gfra1 could also be a susceptibility gene for HSCR.
|
9465906 |
1997 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since genomic rearrangements in particularly sensitive areas of the RET protooncogene and/or associated genes may account for the CCHS/HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in CCHS/HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA).
|
20456320 |
2010 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that, although none of the GDNF mutations identified so far in HSCR patients are per se likely to result in HSCR, two of these mutations (i.e.
|
11823451 |
2002 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings, together with the detection of sequence variants in PROKR1, PROK1 and PROKR2 genes associated to HSCR and, in some cases in combination with RET or GDNF mutations, provide the first evidence to consider them as susceptibility genes for HSCR.
|
21858136 |
2011 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four different genes have been implicated in the pathogenesis of Hirschsprung disease: the RET tyrosine kinase receptor gene; one of its ligands, the glial cell line-derived neurotrophic factor (GDNF) gene; the endothelin receptor B (EDNRB) gene; and its ligand, endothelin-3 (EDN3).
|
9760196 |
1998 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We now demonstrate that retinoic acid (RA) is crucial for GDNF-induced ENS precursor migration, cell polarization and lamellipodia formation, and that vitamin A depletion causes distal bowel aganglionosis in serum retinol-binding-protein-deficient (Rbp4(-/-)) mice.
|
20110328 |
2010 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Given the pivotal role of RET in HSCR, the genes encoding their ligands (GDNF, NRTN, ARTN, and PSPN) are also good candidates for the disease.
|
18970938 |
2008 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation.
|
12720173 |
2003 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
RET mutations were found in 5 patients (4 HSCR, 1 HSCR + CAKUT, 0 CAKUT) and GDNF mutations in 3 (2 HSCR, 1 CAKUT, 0 HSCR + CAKUT).No GFRalpha1 mutations were found.
|
19282698 |
2009 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the coding sequence of GDNF, NTRN, and, for the first time, ARTN and PSPN in HSCR patients and detected several novel variants potentially involved in the pathogenesis of HSCR.
|
21206993 |
2011 |
|
Hirschsprung Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The reduced level of GDNF in AG bowel may suggest a GDNF expression deficit interrupting the faithful signaling via RET, and both are implicated in the pathogenesis of HD.
|
10591552 |
1999 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
|
8896569 |
1996 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Glial cell line-derived neurotrophic factor differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease.
|
9681515 |
1998 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
No haplotype sharing was evident in any of 36 HSCR kindreds typed for microsatellite markers surrounding GDNF on human chromosome 5p.
|
8896568 |
1996 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since genomic rearrangements in particularly sensitive areas of the RET proto-oncogene and/or associated genes may account for the HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA).
|
19183406 |
2009 |
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate the contribution of GDNF to the phenotype observed in this kindred, we scanned the coding region of GDNF in the patient with MEN2/HSCR, but no mutation was found.
|
9745455 |
1998 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations of the genes involved in the receptor tyrosine kinase RET (REarranged during Transfection) (RET)-glial cell line-derived neurotrophic factor (GDNF) and/or endothelin 3 (EDN3)-endothelin receptor-B (EDNRB) signaling pathway have been found in some of HSCR patients.
|
12086152 |
2002 |
|
Hirschsprung Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Pedigrees analysis and the observed association between these GDNF alterations and RET variants in the same patients raised the question of whether the GDNF gene plays any causative/predisposing role in HSCR pathogenesis.
|
11973622 |
2002 |