Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.
Tanikawa W et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
Zhang J et al.
Frontiers in Endocrinology, 2024
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X et al.
Human Molecular Genetics, 2023
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
Martinez-Mayer J et al.
Frontiers in Endocrinology, 2023
Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism.
He D et al.
International Journal of General Medicine, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
[Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism].
Xie YD et al.
Zhonghua Nei Ke Za Zhi, 2022
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
Liu Q et al.
Bmc Endocrine Disorders, 2022
Molecular etiology study of hearing loss in 13 Chinese Han families.
Sun L et al.
Frontiers in Neurology, 2022
Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.
Yuan H et al.
Metabolic Brain Disease, 2021
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.
Zhang Q et al.
Andrologia, 2020
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.
Zhao Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
Cox KH et al.
Human Molecular Genetics, 2018
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene.
Li J et al.
Meta Gene, 2016
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 2016
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Gu WJ et al.
Experimental Biology and Medicine (maywood, N.j.), 2015
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Izumi Y et al.
Fertility and Sterility, 2014
Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
Sbai O et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
McCabe MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C et al.
Frontiers in Endocrinology, 2013
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.
Abreu AP et al.
Neuroendocrinology, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW et al.
The Journal of Clinical Endocrinology and Metabolism, 2008