Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively.
|
30635063 |
2019 |
Klinefelter Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Consequently, the loss function of kisspeptin or GPR54 leads to a symptom of Hypogonadotropic Hypogonadism (HH) in human and HH accompanied by lower gonadotrophic hormone levels, smaller testes, impaired spermatogenesis and abnormal sexual maturation in mice.
|
29380696 |
2019 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 2003, inactivating mutations of Kiss1R gene were first associated to lack of pubertal maturation and hypogonadotropic hypogonadism in humans and rodents.
|
29678280 |
2018 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inactivating and activating mutations in both KISS1 or GPR54 genes were associated with hypogonadotropic hypogonadism and precocious puberty.
|
30205368 |
2018 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Altogether, this study shows that a heterozygous insertion in KISS1R may lead to hypogonadotropic hypogonadism by a dominant negative effect on the WT receptor.
|
23608644 |
2013 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
|
22619348 |
2012 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inactivating GPR54 mutations cause hypogonadotropic hypogonadism in humans.
|
20672907 |
2011 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
|
21193544 |
2011 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Kisspeptin-GPR54 signaling has been implicated in the regulation of pubertal and adulthood gonadotropin-releasing hormone (GnRH) secretion, and mutations or deletions of GPR54 cause hypogonadotropic hypogonadism in humans and mice.
|
17699664 |
2007 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in its receptor, GPR54, were found to cause absence of puberty and hypogonadotropic hypogonadism in humans.
|
17710729 |
2007 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
|
17074994 |
2006 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Despite its prismatic role, few patients with mutations in GPR54 and the phenotype of hypogonadotropic hypogonadism have been described.
|
16757106 |
2006 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
|
15598687 |
2005 |