|
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 |
Biomarker
|
disease |
BEFREE |
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
|
8968758 |
1996 |
|
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 |
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 |
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 |
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 |
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 |
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 |
MGD |
GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys.
|
9728913 |
1998 |
|
Hirschsprung Disease
|
0.370 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
|
19196962 |
2009 |
|
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 |
|
Brain Ischemia
|
0.200 |
Biomarker
|
disease |
RGD |
Induction of glial cell line-derived neurotrophic factor receptor proteins in cerebral cortex and striatum after permanent middle cerebral artery occlusion in rats.
|
10407114 |
1999 |
|
Sciatic Neuropathy
|
0.200 |
Biomarker
|
disease |
RGD |
Sciatic nerve injury in adult rats causes distinct changes in the central projections of sensory neurons expressing different glial cell line-derived neurotrophic factor family receptors.
|
20533358 |
2010 |
|
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis.
|
26776603 |
2016 |
|
Common Migraine
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies novel susceptibility loci for migraine in Han Chinese resided in Taiwan.
|
28952330 |
2018 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Malignant neoplasm of breast
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
The receptor tyrosine kinase, RET, and its coreceptor, GFRα1, are upregulated in a subset of ER(+) breast cancers, and the RET ligand, glial-derived neurotrophic factor (GDNF) is upregulated by inflammatory cytokines.
|
23650283 |
2013 |
|
Malignant neoplasm of breast
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Thus, while BC-mixture up-regulated the expression of oncogenes associated to breast cancer (GFRA1 and BHLHB8), the H-mixture down-regulated the expression of tumor suppressor genes (EPHA4 and EPHB2).
|
26853153 |
2016 |
|
Malignant neoplasm of breast
|
0.050 |
Biomarker
|
disease |
BEFREE |
Moreover, GDNF induced transcription of ST3GAL1, revealing a positive feedback loop regulating ST3GAL1 and GDNF/GFRA1/RET signaling in breast cancers.
|
30040982 |
2018 |
|
Malignant neoplasm of breast
|
0.050 |
Biomarker
|
disease |
BEFREE |
These data indicate that GDNF can act as an important component of the inflammatory response in breast cancers and that its effects are mediated by both paracrine and autocrine stimulation of tumor cells via signaling through the RET and GFR alpha 1 receptors.
|
18089803 |
2007 |
|
Malignant neoplasm of breast
|
0.050 |
Biomarker
|
disease |
BEFREE |
Using an unbiased genomics approach to uncover membrane-localized tumor-associated antigens (TAAs), we have identified glial cell line derived neurotrophic factor (GDNF) family receptor α 1 (GFRA1) as a breast cancer TAA.
|
29796165 |
2018 |
|
Breast Carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
Here, we show that GDNF stimulation of RET(+)/GFR alpha 1(+) MCF7 breast cancer cells in vitro enhanced cell proliferation and survival, and promoted cell scattering.
|
18089803 |
2007 |