TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood - Wikidata - awgldk - TriplyDB

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

http://www.wikidata.org/entity/Q33984838

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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons Central hypogonadotropic hypogonadism: genetic complexity of a complex disease Interactions between kisspeptins and neurokinin B Expanding the phenotype and genotype of female GnRH deficiency 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 The decline in pulsatile GnRH release, as reflected by circulating LH concentrations, during the infant-juvenile transition in the agonadal male rhesus monkey (Macaca mulatta) is associated with a reduction in kisspeptin content of KNDy neurons of t Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus Ablation of KNDy Neurons Results in Hypogonadotropic Hypogonadism and Amplifies the Steroid-Induced LH Surge in Female Rats.Regulation of gene expression by 17β-estradiol in the arcuate nucleus of the mouse through ERE-dependent and ERE-independent mechanisms Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice Electrophysiology of arcuate neurokinin B neurons in female Tac2-EGFP transgenic 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.Fatness and fertility: which direction?Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.Genetic counseling for isolated GnRH deficiency.Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.KISS1R signals independently of Gαq/11 and triggers LH secretion via the β-arrestin pathway in the male mouse.Evidence that obesity and androgens have independent and opposing effects on gonadotropin production from puberty to maturity.Neurokinin B and the hypothalamic regulation of reproduction.Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction Neuropeptide co-expression in hypothalamic kisspeptin neurons of laboratory animals and the human.Neurokinin B administration induces hot flushes in women.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 hypogonadism Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network Activation of neurokinin 3 receptors in the median preoptic nucleus decreases core temperature in the rat.Substance p regulates puberty onset and fertility in the female mouse.Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications Tacking toward reconciliation on Tacr3/TACR3 mutations.

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TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

http://www.wikidata.org/entity/Q33984838

description

2010 nî lūn-bûn

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2010 թուականի Մարտին հրատարակուած գիտական յօդուած

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2010 թվականի մարտին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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type

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TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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prefLabel

TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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The Journal of Clinical Endocrinology and Metabolism

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TAC3/TACR3 mutations reveal pr ...... lowed by reversal in adulthood

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Adriana Lofrano

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Ana Paula Abreu

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Berenice Bilharinho de Mendonça

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Cintia Tusset

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Elaine M F Costa

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Ericka Trarbach

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Erol Bolu

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Jessica Carroll

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John K Amory

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P2860

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

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

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

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

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

The GPR54 gene as a regulator of puberty

Tachykinins and tachykinin receptors: structure and activity relationships

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita

Sex differences in the regulation of Kiss1/NKB neurons in juvenile mice: implications for the timing of puberty.

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2857-2867

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10.1210/JC.2009-2320

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6

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Ana Claudia Latronico Xavier

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42440650

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20332248

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