Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
While both the insulin-like peptide 3 (INSL3) and its receptor, relaxin family peptide receptor 2 (RXFP2), have been demonstrated to control testicular descent in mice, their link to human cryptorchidism is weak, with no clear cause-effect demonstrated.
|
31167797 |
2019 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To study the consequences of an aberrant testicular environment in cryptorchidism we used a mouse model with a deletion of Rxfp2 gene resulting in a high intra-abdominal testicular position.
|
24098584 |
2013 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Conditional suppression of Rxfp2 in the gubernaculum led to cryptorchidism.
|
21147849 |
2011 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations of insulin-like 3 (INSL3) peptide or its G protein-coupled receptor RXFP2 (relaxin family peptide receptor 2) lead to cryptorchidism.
|
21467199 |
2011 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.
|
20636340 |
2011 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human genes encoding insulin-like factor 3 (INSL3) and its Leu-rich repeat-containing G protein-coupled receptor 8 (LGR8), homeobox A10 (HOXA10), zinc finger 214 (ZNF214) and 215 (ZNF215) have occasionally been identified but do not seem to be a frequent cause of cryptorchidism.
|
20980787 |
2010 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
We performed mutation screening of INSL3 and RXFP2 in human patients with cryptorchidism and control subjects from different populations in Europe and the USA.
|
19416188 |
2009 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study confirmed the association between INSL3 and RXFP2 gene mutations and human cryptorchidism.
|
19416190 |
2009 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
To date, only one missense mutation at codon 222 (T222P) of the LGR8 gene has been proposed as a causative mutation for cryptorchidism.
|
18073304 |
2008 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To date, only one missense mutation at codon 222 (T222P) of the LGR8 gene has been proposed as a causative mutation for cryptorchidism.
|
18073304 |
2008 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The T222P mutation is the only one within the LGR8 gene associated with the cryptorchidism phenotype.
|
18772597 |
2008 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genetic ablation of Insl3 or its G protein-coupled receptor (GPCR) Lgr8 causes cryptorchidism in mice.
|
16926383 |
2007 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The results, in conjunction with the previous data, suggest that mutations of INSL3 and LGR8/GREAT remain rare, and that the Thr/Thr genotype of Ala60Thr polymorphism in INSL3 may constitute a susceptibility factor for the development of CO.
|
17028442 |
2007 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic ablation of Insl3 or its G protein-coupled receptor, leucine-rich repeat-containing G-protein-coupled receptor (Lgr8), causes cryptorchidism in mice.
|
16687567 |
2006 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
However, although some of mutations were found only in cryptorchid patients, it remains to be verified whether there is a causative link between the presence of mutations in INSL3 or GREAT/LGR8 and the undescended testis phenotype in men.
|
15705294 |
2005 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate that INSL3-LGR8/GREAT mutations are frequently associated with human cryptorchidism, and that the only clinical consequence of alterations of the INSL3-LGR8/GREAT system seems to be failure of the testis to descend normally in the scrotum during embryonic development, without affecting the spermatogenic and endocrine components of the testis itself.
|
15353080 |
2004 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the INSL3 gene and the LGR8 T222P mutation are known to cause cryptorchidism.
|
15579790 |
2004 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism.
|
15533513 |
2004 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that mutations involving the human LGR8 gene do not represent a frequent cause of cryptorchidism in the Finnish population.
|
14656401 |
2004 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.
|
12970298 |
2003 |
Cryptorchidism
|
0.600 |
Biomarker
|
disease |
MGD |
Mutations of the GREAT gene cause cryptorchidism.
|
12217959 |
2002 |
Cryptorchidism
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the GREAT gene cause cryptorchidism.
|
12217959 |
2002 |