Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromesGenetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genesPROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activityA genetic basis for functional hypothalamic amenorrheaHuman GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsGPCRs Direct Germline Development and Somatic Gonad Function in PlanariansThe Regulation and Function of Fibroblast Growth Factor 8 and Its Function during Gonadotropin-Releasing Hormone Neuron DevelopmentThe role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsExpanding the phenotype and genotype of female GnRH deficiencyCommentary: the year in endocrine genetics for basic scientistsSignaling role of prokineticin 2 on the estrous cycle of female mice.A Novel Drug-Mouse Phenotypic Similarity Method Detects Molecular Determinants of Drug EffectsGnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Prokineticin 2 is a hypothalamic neuropeptide that potently inhibits food intake.The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.Chaperoning G protein-coupled receptors: from cell biology to therapeuticsGenetic determinants of pubertal timing in the general population.TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodExpression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficitsFunctional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in traffickingOligogenic basis of isolated gonadotropin-releasing hormone deficiency.The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in HumansGenetic counseling for isolated GnRH deficiency.Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadismReversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive functionExpert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadismFGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesThe puzzles of the prokineticin 2 pathway in human reproductionIsolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal networkReversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients.Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implicationsDysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.
P2860
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P2860
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Mutations in prokineticin 2 an ...... enetics and clinical spectrum.
@en
type
label
Mutations in prokineticin 2 an ...... enetics and clinical spectrum.
@en
prefLabel
Mutations in prokineticin 2 an ...... enetics and clinical spectrum.
@en
P2093
P2860
P50
P356
P1476
Mutations in prokineticin 2 an ...... genetics and clinical spectrum
@en
P2093
Akira Takeshita
Celine Huot
Frances J Hayes
Guy Van Vliet
Lacey Plummer
Lindsay W Cole
Nathalie Alos
Phyllis Speiser
Qun-Yong Zhou
Richard Quinton
P2860
P304
P356
10.1210/JC.2007-2654
P407
P577
2008-06-17T00:00:00Z