Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

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Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2011PLoSO...625614F
P356DOI10.1371/JOURNAL.PONE.0025614
P932PMC publication ID3198730
P698PubMed publication ID22031817
P5875ResearchGate publication ID51749568

P50authorPhilippe ChansonQ58441504
Jacques YoungQ79281866
Bruno FrancouQ93163553
Anne Guiochon-MantelQ114329935
Jérôme BouligandQ117263983
Séverine TrabadoQ57002857
Sylvie Brailly-TabardQ43098727
P2093author name stringPierre Lecomte
Larbi Amazit
Adela Voican
Geri Meduri
Jérôme Fagart
P2860cites workCentral injection of senktide, an NK3 receptor agonist, or neuropeptide Y inhibits LH secretion and induces different patterns of Fos expression in the rat hypothalamusQ62073287
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.Q44126978
Kisspeptin neurons in the arcuate nucleus of the ewe express both dynorphin A and neurokinin B.Q44932139
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.Q45964826
Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-upQ46573367
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutationsQ46832341
Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous motherQ48235286
The effects of neurokinin B upon gonadotrophin release in male rodents.Q48361192
Coexpression of dynorphin and neurokinin B immunoreactivity in the rat hypothalamus: Morphologic evidence of interrelated function within the arcuate nucleusQ48443918
The neurokinin B pathway in human reproductionQ48727907
Incongruent pattern of neurokinin B expression in rat and mouse brainsQ48768313
Disruption of the neurokinin-3 receptor (NK3) in mice leads to cognitive deficits.Q50086799
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeQ50336618
Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls.Q50962485
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2Q21092497
Discovery of potent kisspeptin antagonists delineate physiological mechanisms of gonadotropin regulationQ24629064
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Q24685744
Improved methods for building protein models in electron density maps and the location of errors in these modelsQ26776980
Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleusQ28749270
Trafficking and quality control of the gonadotropin releasing hormone receptor in health and diseaseQ28755163
Regulation of SRC-3 intercompartmental dynamics by estrogen receptor and phosphorylationQ30480773
Frequency-dependent regulation of follicle-stimulating hormone beta by pulsatile gonadotropin-releasing hormone is mediated by functional antagonism of bZIP transcription factorsQ33627253
Neurokinin 3 receptor immunoreactivity in the septal region, preoptic area and hypothalamus of the female sheep: colocalisation in neurokinin B cells of the arcuate nucleus but not in gonadotrophin-releasing hormone neurones.Q33652453
The biology of gonadotroph regulationQ33821250
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodQ33984838
Neurokinin B and the hypothalamic regulation of reproductionQ34354034
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptorQ34446712
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproductionQ34902985
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.Q35014404
Interactions between kisspeptin and neurokinin B in the control of GnRH secretion in the female rat.Q37174107
Regulation of gonadotropin-releasing hormone secretion by kisspeptin/dynorphin/neurokinin B neurons in the arcuate nucleus of the mouseQ37475488
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationshipsQ37704009
Involvement of tryptophan W276 and of two surrounding amino acid residues in the high constitutive activity of the ghrelin receptor GHS-R1aQ39685019
The third intracellular loop and carboxyl tail of neurokinin 1 and 3 receptors determine interactions with beta-arrestinsQ40637413
Utility of free alpha-subunit as an alternative neuroendocrine marker of gonadotropin-releasing hormone (GnRH) stimulation of the gonadotroph in the human: evidence from normal and GnRH-deficient men.Q41136889
Alpha-subunit secretion in men with idiopathic hypogonadotropic hypogonadismQ41251665
Free luteinizing-hormone beta-subunit in normal subjects and patients with pituitary adenomasQ42438068
Neurokinin B and dynorphin A in kisspeptin neurons of the arcuate nucleus participate in generation of periodic oscillation of neural activity driving pulsatile gonadotropin-releasing hormone secretion in the goat.Q42467752
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humansQ43145611
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P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectcongenital disorderQ727096
hypogonadismQ938107
hypogonadotropic hypogonadismQ30990102
P304page(s)e25614
P577publication date2011-10-21
P1433published inPLOS OneQ564954
P1476titleNormosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations
P478volume6

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cites work (P2860)
Q90724638A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition
Q50243908A neurokinin 3 receptor-selective agonist accelerates pulsatile luteinizing hormone secretion in lactating cattle
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Q36385294Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction
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