Associated Papers
Divergent folding-mediated epistasis among unstable membrane protein variants.
Chamness LM et al.
Elife, 2024
Divergent Folding-Mediated Epistasis Among Unstable Membrane Protein Variants.
Chamness LM et al.
Biorxiv : the Preprint Server for Biology, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
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
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.
Zhang R et al.
Gene, 2018
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
Tello JA et al.
Plos One, 2012
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
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
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
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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
[GnRH deficiency: new insights from genetics].
Kottler ML et al.
Journal De La Societe De Biologie, 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
Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor.
Layman LC et al.
Fertility and Sterility, 2002
Advances in the molecular genetics of hypogonadotropic hypogonadism.
Achermann JC et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2001
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.
Kottler ML et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Molecular evaluation of the gonadotropin-releasing hormone receptor.
Cohen DP
Seminars in Reproductive Medicine, 2000
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
Caron P 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