Hirschsprung Disease
|
0.370 |
Biomarker
|
disease |
BEFREE |
The study focused on genes of potential relevance to enteric nerve (ENS) maturation and Hirschsprung's disease or megacolon, based on the literature (GFRA1, NKX2-1, KIF26A, TPM3, ACTG2, SCN10A, and C17orf107 [CHRNE]) and other genetic variants that co-segregated with megacolon in the six affected family members.
|
30663199 |
2019 |
Hirschsprung Disease
|
0.370 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
|
19196962 |
2009 |
Hirschsprung Disease
|
0.370 |
AlteredExpression
|
disease |
BEFREE |
In normal infants and normoganglionic colon of patients with HSCR, the expression of GFRA1 was restricted to the glial cells and neurones of the ganglion plexuses.
|
12065680 |
2002 |
Hirschsprung Disease
|
0.370 |
AlteredExpression
|
disease |
LHGDN |
Glial cell line-derived neurotrophic factor family receptors are abnormally expressed in aganglionic bowel of a subpopulation of patients with Hirschsprung's disease.
|
12065680 |
2002 |
Hirschsprung Disease
|
0.370 |
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
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that mutations of the GFR alpha-1 gene are not a common aetiological event in HSCR.
|
10204848 |
1999 |
Hirschsprung Disease
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
We have mapped GFRA1 to human chromosome 10q25, isolated human and mouse genomic clones, determined the gene's intron-exon boundaries, isolated a highly polymorphic microsatellite marker adjacent to exon 7, and scanned for GFRA1 mutations in a large panel of HSCR patients.
|
9545641 |
1998 |
Hirschsprung Disease
|
0.370 |
Biomarker
|
disease |
MGD |
GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys.
|
9728913 |
1998 |
Hirschsprung Disease
|
0.370 |
Biomarker
|
disease |
BEFREE |
In order to test if Gfra1 could be the Dom gene or if it represents a new possible HSCR locus we have undertaken the mapping of the mouse Gfra1.
|
9465906 |
1997 |
Hirschsprung Disease
|
0.370 |
Biomarker
|
disease |
BEFREE |
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
|
8968758 |
1996 |
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we found an overtransmission of the G-C GFRA1 rs7920934-rs730357 haplotype to subjects with schizophrenia and association of A-T-G-G GFRA3 rs10036665-rs10952-rs11242417-rs7726580 with schizophrenia in the case-control sample.
|
20116071 |
2010 |
Schizophrenia
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Furthermore, we found an overtransmission of the G-C GFRA1 rs7920934-rs730357 haplotype to subjects with schizophrenia and association of A-T-G-G GFRA3 rs10036665-rs10952-rs11242417-rs7726580 with schizophrenia in the case-control sample.
|
20116071 |
2010 |
Liver Cirrhosis, Experimental
|
0.300 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
Neuralgia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Supraorbital
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Vidian
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Atypical
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Stump
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Perineal
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Iliohypogastric Nerve
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Neuralgia, Ilioinguinal
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Nerve Pain
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Paroxysmal Nerve Pain
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice.
|
18400411 |
2008 |
Cerebrovascular accident
|
0.210 |
GeneticVariation
|
group |
BEFREE |
This study aimed to further understand the role of relative telomere length (RTL) in susceptibility to stroke and investigate the association regulator of telomere elongation helicase 1 (RETL1) gene polymorphisms and RTL.
|
30345460 |
2018 |
Cerebrovascular accident
|
0.210 |
Biomarker
|
group |
RGD |
In this study, we examined the levels of expression of GFRalpha-1 and c-Ret in a rat model of stroke.
|
11476594 |
2001 |