Associated Papers
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 2024
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Maione L et al.
Human Reproduction (oxford, England), 2019
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Cioppi F et al.
Andrology, 2019
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 2018
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Gianetti E et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
Tello JA et al.
Plos One, 2012
GnRH receptor mutations in isolated gonadotropic deficiency.
Chevrier L et al.
Molecular and Cellular Endocrinology, 2011
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism.
Maya-Núñez G et al.
Molecular and Cellular Endocrinology, 2011
Pharmacological chaperones for misfolded gonadotropin-releasing hormone receptors.
Conn PM et al.
Advances in Pharmacology (san Diego, Calif.), 2011
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
Young J et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F et al.
European Journal of Endocrinology, 2010
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.
Kim HG et al.
Frontiers of Hormone Research, 2010
Drug development and the cellular quality control system.
Conn PM et al.
Trends in Pharmacological Sciences, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.
Bhagavath B et al.
Fertility and Sterility, 2005
Parallel regulation of membrane trafficking and dominant-negative effects by misrouted gonadotropin-releasing hormone receptor mutants.
Knollman PE et al.
The Journal of Biological Chemistry, 2005
In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.
Leaños-Miranda A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.
Karges B et al.
Endocrine Development, 2005
Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.
Ulloa-Aguirre A et al.
Traffic (copenhagen, Denmark), 2004
Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect.
Brothers SP et al.
Molecular Endocrinology (baltimore, Md.), 2004
Dominant-negative action of disease-causing gonadotropin-releasing hormone receptor (GnRHR) mutants: a trait that potentially coevolved with decreased plasma membrane expression of GnRHR in humans.
Leaños-Miranda A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Molecular evaluation of the gonadotropin-releasing hormone receptor.
Cohen DP
Seminars in Reproductive Medicine, 2000
Genetics of human hypogonadotropic hypogonadism.
Layman LC
American Journal of Medical Genetics, 1999
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred.
de Roux N et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.
Kottler ML et al.
Archives of Medical Research, 0
Clinical and molecular genetics of the human GnRH receptor.
Karges B et al.
Human Reproduction Update, 0
Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.
Ulloa-Aguirre A et al.
Human Reproduction Update, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0