Associated Papers
Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.
Kwon S et al.
Scientific Reports, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.
Stamou MI et al.
European Journal of Endocrinology, 2017
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
Ayers KL et al.
Human Genomics, 2017
Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.
Seki M et al.
Nature Communications, 2015
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
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C et al.
Frontiers in Endocrinology, 2013
Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function.
Abreu AP et al.
Molecular Endocrinology (baltimore, Md.), 2012
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
Martin C et al.
Endocrine Reviews, 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