Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism - Wikidata - wikimedia - TriplyDB

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

http://www.wikidata.org/entity/Q30442563

about

Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration 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 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome Prokineticins: new regulatory peptides in human reproduction Etiology and treatment of hypogonadism in adolescents Etiology and treatment of hypogonadism in adolescents The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations Expanding the phenotype and genotype of female GnRH deficiency Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation Commentary: the year in endocrine genetics for basic scientists Axl and Tyro3 modulate female reproduction by influencing gonadotropin-releasing hormone neuron survival and migration Signaling role of prokineticin 2 on the estrous cycle of female mice.Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism Deletion of Vax1 from Gonadotropin-Releasing Hormone (GnRH) Neurons Abolishes GnRH Expression and Leads to Hypogonadism and Infertility.Heterozygous deletion of ventral anterior homeobox (vax1) causes subfertility in mice Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Temporally regulated traffic of HuR and its associated ARE-containing mRNAs from the chromatoid body to polysomes during mouse spermatogenesis Prokineticin 2 is a hypothalamic neuropeptide that potently inhibits food intake.Human genetic disorders of axon guidance.The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.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 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.Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function GnRH, anosmia and hypogonadotropic hypogonadism--where are we?

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P2860

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

http://www.wikidata.org/entity/Q30442563

description

2007 nî lūn-bûn

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2007 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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Loss-of-function mutation in t ...... hypogonadotropic hypogonadism

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Loss-of-function mutation in t ...... hypogonadotropic hypogonadism

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Loss-of-function mutation in t ...... hypogonadotropic hypogonadism

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Loss-of-function mutation in t ...... hypogonadotropic hypogonadism

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Loss-of-function mutation in t ...... hypogonadotropic hypogonadism

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Proceedings of the National Academy of Sciences of the United States of America

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Loss-of-function mutation in t ...... hypogonadotropic hypogonadism

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Elka E Jacobson-Dickman

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Jia-Da Li

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Lacey Plummer

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Lindsay W Cole

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Pamela L Mellon

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Qun-Yong Zhou

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Taneli Raivio

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William F Crowley

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P2860

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

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

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

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

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

The GPR54 gene as a regulator of puberty

Molecular cloning and characterization of prokineticin receptors

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104

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Duarte Pignatelli

Chengkang Zhang

Nelly Pitteloud

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2007-10-24T00:00:00Z

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5885633

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