Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 - Wikidata - thesis-toulmin - TriplyDB

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

http://www.wikidata.org/entity/Q21092497

about

Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome A genetic basis for functional hypothalamic amenorrhea Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons From nose to brain: development of gonadotrophin-releasing hormone-1 neurones Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications Prokineticins: new regulatory peptides in human reproduction The genetic basis of female reproductive disorders: etiology and clinical testing The Regulation and Function of Fibroblast Growth Factor 8 and Its Function during Gonadotropin-Releasing Hormone Neuron Development The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations Commentary: the year in endocrine genetics for basic scientists Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation Deletion of Vax1 from Gonadotropin-Releasing Hormone (GnRH) Neurons Abolishes GnRH Expression and Leads to Hypogonadism and Infertility.GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism Prokineticin 2 is a hypothalamic neuropeptide that potently inhibits food intake.Human genetic disorders of axon guidance.Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.Kisspeptin and GPR54: discovery of a novel pathway in reproduction.Genetic 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 adulthood Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.Mutations in FEZF1 cause Kallmann syndrome Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.Genetic counseling for isolated GnRH deficiency.The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

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2006 nî lūn-bûn

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2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2006 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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JOURNAL.PGEN.0020175

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Kallmann syndrome: mutations i ...... -2 and prokineticin receptor-2

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Alexandre Moerman

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Anne Lienhardt-Roussie

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Arnaud Murat

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Luis Teixeira

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Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle

The endocrine-gland-derived VEGF homologue Bv8 promotes angiogenesis in the testis: Localization of Bv8 receptors to endothelial cells

Cellular signaling by fibroblast growth factor receptors

Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Isolation and identification of EG-VEGF/prokineticins as cognate ligands for two orphan G-protein-coupled receptors

Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factor

Molecular cloning and characterization of prokineticin receptors

Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1

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