Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypogonadotropic hypogonadism due to GnRH receptor mutation in a sibling.
|
21717411 |
2011 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GnRH receptor mutations have recently been identified in a small number of familial cases of nonanosmic hypogonadotropic hypogonadism.
|
10690855 |
2000 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GnRH receptor mutations may account for a larger proportion of cases of HH than previously thought.
|
12568864 |
2003 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GnRHR mutants isolated from patients with hypogonadotropic hypogonadism (HH) are frequently mislocalized proteins that can be restored to function by pharmacological chaperones.
|
15105440 |
2004 |
Klinefelter Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH.
|
26680571 |
2016 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
|
10999776 |
2000 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alterations in the GnRH receptor determine hypogonadotropic hypogonadism.
|
11420132 |
2001 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution.
|
26572316 |
2016 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism.
|
21277937 |
2011 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor.
|
12477532 |
2002 |
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 |
In conclusion, we report the first mutation of the GnRH-R gene that can induce a total loss of function of this receptor and is associated with a phenotype of complete hypogonadotropic hypogonadism.
|
10523035 |
1999 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1.
|
10599708 |
1999 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It should not have been surprising, in retrospect, to find that even a single amino acid mutation dramatically alters protein function or routing because increased plasma membrane expression is associated with deletion of a single amino acid in the human GnRHR (K191), and point mutations have been shown to block plasma membrane routing of many receptors, including most of those responsible for the hypogonadotropic hypogonadism phenotype.
|
14671217 |
2003 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Kallman syndrome 1 (KAL-1) gene analysis was performed in all patients and the gonadotrophin releasing hormone receptor (GnRH-R) gene was investigated in nHH patients using PCR analysis with exon-flanking primers followed by automated sequencing techniques.
|
16423815 |
2005 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations of the GnRH receptor: a new cause of hypogonadotropic hypogonadism.
|
10698591 |
1999 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene.
|
17179725 |
2006 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human GnRH receptor (hGnRHR) gene have been reported in families with hypogonadotropic hypogonadism.
|
11994356 |
2002 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.
|
10714361 |
2000 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor.
|
19449676 |
2009 |
Klinefelter Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target.
|
12107234 |
2002 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the GNRHR gene in patients with HH revealed mainly point mutations producing single amino acid substitutions that cause misfolding and misrouting of this G protein-coupled receptor.
|
22918878 |
2012 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.
|
16213849 |
2005 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These patients have genomic mutations in the gene for the GnRHR and represent the first individuals with hypogonadotropic hypogonadism of autosomal inheritance.
|
11299515 |
2000 |
Klinefelter Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.
|
16868131 |
2006 |