Associated Papers
Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.
Lattanzi R et al.
Life (basel, Switzerland), 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
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome.
Shu M et al.
International Journal of Endocrinology, 2022
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
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
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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