Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Erratum to a partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Unknown Author
Translational Andrology and Urology, 2022
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2022
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
A partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Chen Y et al.
Translational Andrology and Urology, 2021
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
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
Pharmacological chaperones for misfolded gonadotropin-releasing hormone receptors.
Conn PM et al.
Advances in Pharmacology (san Diego, Calif.), 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
Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor.
Quintos JB et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
Cerrato F et al.
European Journal of Endocrinology, 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
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
Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function.
Bédécarrats GY et al.
Molecular and Cellular Endocrinology, 2003
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
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.
Janovick JA et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Beranova M et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
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