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Volumn 81, Issue 3, 2014, Pages 177-181

Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty

Author keywords

GPR54; Idiopathic central precocious puberty; Single nucleotide polymorphism; TACR3

Indexed keywords

G PROTEIN COUPLED RECEPTOR 54; GENOMIC DNA; PROTEIN; TACR3 PROTEIN; UNCLASSIFIED DRUG; G PROTEIN COUPLED RECEPTOR; KISS1R PROTEIN, HUMAN; TACHYKININ RECEPTOR;

EID: 84899066662     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000356913     Document Type: Article
Times cited : (13)

References (37)
  • 1
    • 85047684917 scopus 로고    scopus 로고
    • Variation in the timing of puberty: Clinical spectrum and genetic investigation
    • Palmert MR, Boepple PA: Variation in the timing of puberty: Clinical spectrum and genetic investigation. J Clin Endocrinol Metab 2001; 86: 2364-2368.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2364-2368
    • Palmert, M.R.1    Boepple, P.A.2
  • 3
    • 44349121852 scopus 로고    scopus 로고
    • Clinical practice. Precocious puberty
    • Carel JC, Leger J: Clinical practice. Precocious puberty. N Engl J Med 2008; 358: 2366-2377.
    • (2008) N Engl J Med , vol.358 , pp. 2366-2377
    • Carel, J.C.1    Leger, J.2
  • 4
    • 1942472970 scopus 로고    scopus 로고
    • Familial central precocious puberty suggests autosomal dominant inheritance
    • De Vries L, Kauschansky A, Shohat M: Familial central precocious puberty suggests autosomal dominant inheritance. J Clin Endocrinol Metab 2004; 89: 1794-1800.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 1794-1800
    • De Vries, L.1    Kauschansky, A.2    Shohat, M.3
  • 5
    • 0035112245 scopus 로고    scopus 로고
    • Neurobiological mechanisms of the onset of puberty in primates
    • Terasawa E, Fernandez DL: Neurobiological mechanisms of the onset of puberty in primates. Endocr Rev 2001; 22: 111-151.
    • (2001) Endocr Rev , vol.22 , pp. 111-151
    • Terasawa, E.1    Fernandez, D.L.2
  • 6
    • 48049091828 scopus 로고    scopus 로고
    • Kisspeptin: A novel regulator of reproductive function
    • Dhillo WS: Kisspeptin: A novel regulator of reproductive function. J Neuroendocrinol 2008; 20: 963-970.
    • (2008) J Neuroendocrinol , vol.20 , pp. 963-970
    • Dhillo, W.S.1
  • 7
    • 5444220724 scopus 로고    scopus 로고
    • Central injection of senktide, an NK3 receptor agonist, or neuropeptide y inhibits LH secretion and induces different patterns of Fos expression in the rat hypothalamus
    • Sandoval-Guzm?n T, Rance NE: Central injection of senktide, an NK3 receptor agonist, or neuropeptide Y inhibits LH secretion and induces different patterns of Fos expression in the rat hypothalamus. Brain Res 2004; 1026: 307-312.
    • (2004) Brain Res , vol.1026 , pp. 307-312
    • Sandoval-Guzmn, T.1    Rance, N.E.2
  • 8
    • 70349342734 scopus 로고    scopus 로고
    • Regulation of gonadotropin-releasing hormone secretion by kisspeptin/dynorphin/neurokinin B neurons in the arcuate nucleus of the mouse
    • Navarro VM, Gottsch ML, Chavkin C, Okamura H, Clifton DK, Steiner RA: Regulation of gonadotropin-releasing hormone secretion by kisspeptin/dynorphin/ neurokinin B neurons in the arcuate nucleus of the mouse. J Neurosci 2009; 29: 11859-11866.
    • (2009) J Neurosci , vol.29 , pp. 11859-11866
    • Navarro, V.M.1    Gottsch, M.L.2    Chavkin, C.3    Okamura, H.4    Clifton, D.K.5    Steiner, R.A.6
  • 11
    • 81355149648 scopus 로고    scopus 로고
    • Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor
    • Ramaswamy S, Seminara SB, Plant TM: Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor. Neuroendocrinology 2011; 94: 237-245.
    • (2011) Neuroendocrinology , vol.94 , pp. 237-245
    • Ramaswamy, S.1    Seminara, S.B.2    Plant, T.M.3
  • 12
    • 77649123886 scopus 로고    scopus 로고
    • 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
    • Wakabayashi Y, Nakada T, Murata K, Ohkura S, Mogi K, Navarro VM, Clifton DK, Mori Y, Tsukamura H, Maeda K, Steiner RA, Okamura H: 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. J Neurosci 2010; 30: 3124-3132.
    • (2010) J Neurosci , vol.30 , pp. 3124-3132
    • Wakabayashi, Y.1    Nakada, T.2    Murata, K.3    Ohkura, S.4    Mogi, K.5    Navarro, V.M.6    Clifton, D.K.7    Mori, Y.8    Tsukamura, H.9    Maeda, K.10    Steiner, R.A.11    Okamura, H.12
  • 13
    • 84871926938 scopus 로고    scopus 로고
    • New insights into the control of pulsatile GnRH release: The role of Kiss1/neurokinin B neurons
    • Navarro VM: New insights into the control of pulsatile GnRH release: The role of Kiss1/neurokinin B neurons. Front Endocrinol (Lausanne) 2012; 3: 48.
    • (2012) Front Endocrinol (Lausanne) , vol.3 , pp. 48
    • Navarro, V.M.1
  • 15
    • 23844435021 scopus 로고    scopus 로고
    • Regulation of Kiss1 gene expression in the brain of the female mouse
    • Smith JT, Cunningham MJ, Rissman EF, et al: Regulation of Kiss1 gene expression in the brain of the female mouse. Endocrinology 2005; 146: 3686-3692.
    • (2005) Endocrinology , vol.146 , pp. 3686-3692
    • Smith, J.T.1    Cunningham, M.J.2    Rissman, E.F.3
  • 16
    • 73349127165 scopus 로고    scopus 로고
    • 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
    • Amstalden M, Coolen LM, Hemmerle AM, et al: 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. J Neuroendocrinol 2010; 22: 1-12.
    • (2010) J Neuroendocrinol , vol.22 , pp. 1-12
    • Amstalden, M.1    Coolen, L.M.2    Hemmerle, A.M.3
  • 17
    • 77951887582 scopus 로고    scopus 로고
    • Forebrain projections of arcuate neurokinin B neurons demonstrated by anterograde tract-tracing and monosodium glutamate lesions in the rat
    • Krajewski SJ, Burke MC, Anderson MJ, et al: Forebrain projections of arcuate neurokinin B neurons demonstrated by anterograde tract-tracing and monosodium glutamate lesions in the rat. Neuroscience 2010; 166: 680-697.
    • (2010) Neuroscience , vol.166 , pp. 680-697
    • Krajewski, S.J.1    Burke, M.C.2    Anderson, M.J.3
  • 19
    • 0141814637 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
    • De Roux N, Genin E, Carel JC, et al: Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci USA 2003; 100: 10972-10976.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 10972-10976
    • De Roux, N.1    Genin, E.2    Carel, J.C.3
  • 21
    • 15944368215 scopus 로고    scopus 로고
    • Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism
    • Semple RK, Achermann JC, Ellery J, et al: Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2005; 90: 1849-1855.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1849-1855
    • Semple, R.K.1    Achermann, J.C.2    Ellery, J.3
  • 22
    • 33947493910 scopus 로고    scopus 로고
    • Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54
    • Tenenbaum-Rakover Y, Commenges-Ducos M, Iovane A, et al: Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. J Clin Endocrinol Metab 2007; 92: 1137-1144.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1137-1144
    • Tenenbaum-Rakover, Y.1    Commenges-Ducos, M.2    Iovane, A.3
  • 23
    • 61349091041 scopus 로고    scopus 로고
    • TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction
    • Topaloglu AK, Reimann F, Guclu M, et al: TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction. Nat Genet 2009; 41: 354-358.
    • (2009) Nat Genet , vol.41 , pp. 354-358
    • Topaloglu, A.K.1    Reimann, F.2    Guclu, M.3
  • 24
    • 77954517193 scopus 로고    scopus 로고
    • TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
    • Gianetti E, Tusset C, Noel SD, et al: TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab 2010; 95: 2857-2867.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 2857-2867
    • Gianetti, E.1    Tusset, C.2    Noel, S.D.3
  • 25
    • 79952307060 scopus 로고    scopus 로고
    • A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family
    • Nimri R, Lebenthal Y, Lazar L, et al: A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family. J Clin Endocrinol Metab 2011; 96: 536-545.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. 536-545
    • Nimri, R.1    Lebenthal, Y.2    Lazar, L.3
  • 26
    • 39049168719 scopus 로고    scopus 로고
    • A GPR54-activating mutation in a patient with central precocious puberty
    • Teles MG, Bianco SD, Brito VN, et al: A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med 2008; 358: 709-715.
    • (2008) N Engl J Med , vol.358 , pp. 709-715
    • Teles, M.G.1    Bianco, S.D.2    Brito, V.N.3
  • 27
    • 29444450289 scopus 로고
    • Tables for predicting adult height from skeletal age: Revised for use with the Greulich-Pyle hand standards
    • Bayley N, Pinneau SR: Tables for predicting adult height from skeletal age: Revised for use with the Greulich-Pyle hand standards. J Pediatr 1952; 40: 423-441.
    • (1952) J Pediatr , vol.40 , pp. 423-441
    • Bayley, N.1    Pinneau, S.R.2
  • 31
    • 80053175241 scopus 로고    scopus 로고
    • LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty
    • Tommiska J, S?rensen K, Aksglaede L, et al: LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty. BMC Res Notes 2011; 4: 363.
    • (2011) BMC Res Notes , vol.4 , pp. 363
    • Tommiska, J.1    Srensen, K.2    Aksglaede, L.3
  • 32
    • 56549118507 scopus 로고    scopus 로고
    • Timing of pubertal onset in girls: Evidence for non-gaussian distribution
    • Papadimitriou A, Pantsiotou S, Douros K, et al: Timing of pubertal onset in girls: Evidence for non-gaussian distribution. J Clin Endocrinol Metab 2008; 93: 4422-4425.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4422-4425
    • Papadimitriou, A.1    Pantsiotou, S.2    Douros, K.3
  • 33
    • 29644447614 scopus 로고    scopus 로고
    • Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism
    • Lanfranco F, Gromoll J, von Eckardstein S, et al: Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. Eur J Endocrinol 2005; 153: 845-852.
    • (2005) Eur J Endocrinol , vol.153 , pp. 845-852
    • Lanfranco, F.1    Gromoll, J.2    Von Eckardstein, S.3
  • 34
    • 34848919226 scopus 로고    scopus 로고
    • GPR54 polymorphisms in Chinese girls with central precocious puberty
    • Luan X, Yu H, Wei X, et al: GPR54 polymorphisms in Chinese girls with central precocious puberty. Neuroendocrinology 2007; 86: 77-83.
    • (2007) Neuroendocrinology , vol.86 , pp. 77-83
    • Luan, X.1    Yu, H.2    Wei, X.3
  • 35
    • 77953911681 scopus 로고    scopus 로고
    • Gene networks and the neuroendocrine regulation of puberty
    • Ojeda SR, Dubay C, Lomniczi A, et al: Gene networks and the neuroendocrine regulation of puberty. Mol Cell Endocrinol 2010; 324: 3-11.
    • (2010) Mol Cell Endocrinol , vol.324 , pp. 3-11
    • Ojeda, S.R.1    Dubay, C.2    Lomniczi, A.3
  • 36
    • 84879344554 scopus 로고    scopus 로고
    • Central precocious puberty caused by mutations in the imprinted gene MKRN3
    • Abreu AP, Dauber A, Macedo DB, et al: Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med 2013; 368: 2467-2475.
    • (2013) N Engl J Med , vol.368 , pp. 2467-2475
    • Abreu, A.P.1    Dauber, A.2    Macedo, D.B.3
  • 37
    • 84879337289 scopus 로고    scopus 로고
    • Releasing the brake on puberty
    • Hughes IA: Releasing the brake on puberty. N Engl J Med 2013; 368: 2513-2515.
    • (2013) N Engl J Med , vol.368 , pp. 2513-2515
    • Hughes, I.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.