Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized.

Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways

GAUDINO, Rossella
2014-01-01

Abstract

Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized.
2014
Adolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation, Missense; Receptors, G-Protein-Coupled; Receptors, Peptide; Signal Transduction; Young Adult; Germ-Line Mutation
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/932509
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