Associated Papers
Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.
Brunello FG et al.
Human Molecular Genetics, 2026
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Stamou MI et al.
Human Genetics, 2025
Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.
van Bever Y et al.
Epigenetics, 2024
Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.
Lattanzi R et al.
Life (basel, Switzerland), 2024
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Poch A et al.
Molecular and Cellular Endocrinology, 2024
Gene-environment interaction in functional hypothalamic amenorrhea.
Barbagallo F et al.
Frontiers in Endocrinology, 2024
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Kardelen AD et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X et al.
Human Molecular Genetics, 2023
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure.
Berkay EG et al.
Molecular Genetics and Genomics : Mgg, 2023
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
Martinez-Mayer J et al.
Frontiers in Endocrinology, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sugisawa C et al.
Endocrine Journal, 2022
Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption.
Liu Y et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
Trafficking-defective mutant PROKR2 cycles between endoplasmic reticulum and Golgi to attenuate endoplasmic reticulum stress.
Song YB et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
Topaloglu AK et al.
Human Genetics, 2022
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
Trypanosoma cruzi trans-sialidase induces STAT3 and ERK activation by prokineticin receptor 2 binding.
Lattanzi R et al.
Cell Biochemistry and Function, 2021
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples' Journey.
D'Argenio V et al.
Genes, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
Butz H et al.
Human Genetics, 2021
Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches.
Schöneberg T et al.
Pharmacological Reviews, 2021
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.
Bajuk Studen K et al.
Endocrine, 2019
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
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
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
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly J et al.
Human Molecular Genetics, 2018
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
Parsons SJH et al.
American Journal of Medical Genetics. Part A, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
Castinetti F et al.
European Journal of Endocrinology, 2016
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 2016
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.
Pangalos C et al.
Peerj, 2016
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
McCabe MJ et al.
Molecular and Cellular Endocrinology, 2015
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa FA et al.
Endocrine Connections, 2015
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.
Asakura Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2015