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Volumn 324, Issue 1-2, 2010, Pages 30-38

Genetics basis for GnRH-dependent pubertal disorders in humans

Author keywords

Central precocious puberty; GnRH neurons; Isolated hypogonadotropic hypogonadism; Kallmann syndrome; Kisspeptin

Indexed keywords

DNA BINDING PROTEIN; FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTOR RECEPTOR 1; G PROTEIN COUPLED RECEPTOR 54; GONADORELIN; GONADORELIN RECEPTOR; KISSPEPTIN; METASTIN; NEUROKININ 3 RECEPTOR; NEUROKININ B;

EID: 77953880509     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2010.02.023     Document Type: Review
Times cited : (69)

References (125)
  • 6
    • 0037197904 scopus 로고    scopus 로고
    • Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1
    • Bulow H.E., Berry K.L., Topper L.H., Peles E., Hobert O. Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. Proc. Natl. Acad. Sci. U.S.A. 2002, 99:6346-6351.
    • (2002) Proc. Natl. Acad. Sci. U.S.A. , vol.99 , pp. 6346-6351
    • Bulow, H.E.1    Berry, K.L.2    Topper, L.H.3    Peles, E.4    Hobert, O.5
  • 7
    • 58149287989 scopus 로고    scopus 로고
    • Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1
    • Canto P., Munguia P., Soderlund D., Castro J.J., Mendez J.P. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. J. Androl. 2009, 30:41-45.
    • (2009) J. Androl. , vol.30 , pp. 41-45
    • Canto, P.1    Munguia, P.2    Soderlund, D.3    Castro, J.J.4    Mendez, J.P.5
  • 8
    • 44349121852 scopus 로고    scopus 로고
    • Clinical practice. Precocious puberty
    • Carel J.C., 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
  • 9
    • 9444238033 scopus 로고    scopus 로고
    • The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
    • Cariboni A., Pimpinelli F., Colamarino S., Zaninetti R., Piccolella M., Rumio C., Piva F., Rugarli E.I., Maggi R. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum. Mol. Genet. 2004, 13:2781-2791.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 2781-2791
    • Cariboni, A.1    Pimpinelli, F.2    Colamarino, S.3    Zaninetti, R.4    Piccolella, M.5    Rumio, C.6    Piva, F.7    Rugarli, E.I.8    Maggi, R.9
  • 12
    • 53249142412 scopus 로고    scopus 로고
    • Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons
    • Chung W.C., Moyle S.S., Tsai P.S. Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology 2008, 149:4997-5003.
    • (2008) Endocrinology , vol.149 , pp. 4997-5003
    • Chung, W.C.1    Moyle, S.S.2    Tsai, P.S.3
  • 14
    • 84923736676 scopus 로고    scopus 로고
    • Transgenic mouse models to study Gpr54/kisspeptin physiology
    • Colledge W.H. Transgenic mouse models to study Gpr54/kisspeptin physiology. Peptides 2008.
    • (2008) Peptides
    • Colledge, W.H.1
  • 15
    • 58649112159 scopus 로고    scopus 로고
    • Trafficking and quality control of the gonadotropin releasing hormone receptor in health and disease
    • Conn P.M., Janovick J.A. Trafficking and quality control of the gonadotropin releasing hormone receptor in health and disease. Mol. Cell. Endocrinol. 2009, 299:137-145.
    • (2009) Mol. Cell. Endocrinol. , vol.299 , pp. 137-145
    • Conn, P.M.1    Janovick, J.A.2
  • 16
    • 0034966302 scopus 로고    scopus 로고
    • Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction
    • Costa E.M., Bedecarrats G.Y., Mendonca B.B., Arnhold I.J., Kaiser U.B., Latronico A.C. Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. J. Clin. Endocrinol. Metab. 2001, 86:2680-2686.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 2680-2686
    • Costa, E.M.1    Bedecarrats, G.Y.2    Mendonca, B.B.3    Arnhold, I.J.4    Kaiser, U.B.5    Latronico, A.C.6
  • 19
    • 70350573860 scopus 로고
    • Etudes sur les dysraphies cranio-encephaliques. I. Agenesie des lobes olfactifs (telencephaloschizis lateral) et des commissures calleuse et anterieure (telencephaloschizis median): la dysplasie olfacto-genitale
    • De Morsier G. Etudes sur les dysraphies cranio-encephaliques. I. Agenesie des lobes olfactifs (telencephaloschizis lateral) et des commissures calleuse et anterieure (telencephaloschizis median): la dysplasie olfacto-genitale. Schweiz. Arch. Neurol. Psychiat. 1954, 74:309-361.
    • (1954) Schweiz. Arch. Neurol. Psychiat. , vol.74 , pp. 309-361
    • De Morsier, G.1
  • 20
    • 0030698188 scopus 로고    scopus 로고
    • A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
    • de Roux N., Young J., Misrahi M., Genet R., Chanson P., Schaison G., Milgrom E. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N. Engl. J. Med. 1997, 337:1597-1602.
    • (1997) N. Engl. J. Med. , vol.337 , pp. 1597-1602
    • de Roux, N.1    Young, J.2    Misrahi, M.3    Genet, R.4    Chanson, P.5    Schaison, G.6    Milgrom, E.7
  • 29
    • 33847761886 scopus 로고    scopus 로고
    • Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism
    • Freitas K.C., Ryan G., Brito V.N., Tao Y.X., Costa E.M., Mendonca B.B., Segaloff D., Latronico A.C. Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism. Fertil. Steril. 2007, 87:627-634.
    • (2007) Fertil. Steril. , vol.87 , pp. 627-634
    • Freitas, K.C.1    Ryan, G.2    Brito, V.N.3    Tao, Y.X.4    Costa, E.M.5    Mendonca, B.B.6    Segaloff, D.7    Latronico, A.C.8
  • 31
    • 0031016660 scopus 로고    scopus 로고
    • Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
    • Georgopoulos N., Pralong F., Seidman C., Seidman J., Crowley W.J., Vallejo M. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J. Clin. Endocrinol. Metab. 1997, 82:213-217.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , pp. 213-217
    • Georgopoulos, N.1    Pralong, F.2    Seidman, C.3    Seidman, J.4    Crowley, W.J.5    Vallejo, M.6
  • 33
    • 9644281869 scopus 로고    scopus 로고
    • Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome
    • Gonzalez-Martinez D., Hu Y., Bouloux P.M. Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. Front. Neuroendocrinol. 2004, 25:108-130.
    • (2004) Front. Neuroendocrinol. , vol.25 , pp. 108-130
    • Gonzalez-Martinez, D.1    Hu, Y.2    Bouloux, P.M.3
  • 36
    • 3042630496 scopus 로고    scopus 로고
    • Galanin-like peptide as a link in the integration of metabolism and reproduction
    • Gottsch M.L., Clifton D.K., Steiner R.A. Galanin-like peptide as a link in the integration of metabolism and reproduction. Trends Endocrinol. Metab. 2004, 15:215-221.
    • (2004) Trends Endocrinol. Metab. , vol.15 , pp. 215-221
    • Gottsch, M.L.1    Clifton, D.K.2    Steiner, R.A.3
  • 37
    • 0036285444 scopus 로고    scopus 로고
    • The neuroendocrinology of human puberty revisited
    • Grumbach M.M. The neuroendocrinology of human puberty revisited. Horm. Res. 2002, 57(Suppl. 2):2-14.
    • (2002) Horm. Res. , vol.57 , Issue.SUPPL. 2 , pp. 2-14
    • Grumbach, M.M.1
  • 42
    • 1942470528 scopus 로고    scopus 로고
    • Kinetic model for FGF, FGFR, and proteoglycan signal transduction complex assembly
    • Ibrahimi O.A., Zhang F., Hrstka S.C., Mohammadi M., Linhardt R.J. Kinetic model for FGF, FGFR, and proteoglycan signal transduction complex assembly. Biochemistry 2004, 43:4724-4730.
    • (2004) Biochemistry , vol.43 , pp. 4724-4730
    • Ibrahimi, O.A.1    Zhang, F.2    Hrstka, S.C.3    Mohammadi, M.4    Linhardt, R.J.5
  • 45
    • 0346962869 scopus 로고    scopus 로고
    • Disorders of pubertal development: precocious puberty
    • Kakarla N., Bradshaw K.D. Disorders of pubertal development: precocious puberty. Semin. Reprod. Med. 2003, 21:339-351.
    • (2003) Semin. Reprod. Med. , vol.21 , pp. 339-351
    • Kakarla, N.1    Bradshaw, K.D.2
  • 49
    • 0033384018 scopus 로고    scopus 로고
    • Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism
    • Kottler M.L., Counis R., Bouchard P. Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism. Arch. Med. Res. 1999, 30:481-485.
    • (1999) Arch. Med. Res. , vol.30 , pp. 481-485
    • Kottler, M.L.1    Counis, R.2    Bouchard, P.3
  • 50
    • 22644439726 scopus 로고    scopus 로고
    • Morphologic evidence that neurokinin B modulates gonadotropin-releasing hormone secretion via neurokinin 3 receptors in the rat median eminence
    • Krajewski S.J., Anderson M.J., Iles-Shih L., Chen K.J., Urbanski H.F., Rance N.E. Morphologic evidence that neurokinin B modulates gonadotropin-releasing hormone secretion via neurokinin 3 receptors in the rat median eminence. J. Comp. Neurol. 2005, 489:372-386.
    • (2005) J. Comp. Neurol. , vol.489 , pp. 372-386
    • Krajewski, S.J.1    Anderson, M.J.2    Iles-Shih, L.3    Chen, K.J.4    Urbanski, H.F.5    Rance, N.E.6
  • 51
    • 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., Herding E.M., Nieschlag E., Simoni M. 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    Herding, E.M.4    Nieschlag, E.5    Simoni, M.6
  • 56
    • 33845497498 scopus 로고    scopus 로고
    • A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor (GNRHR) presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia
    • Lin L., Conway G.S., Hill N.R., Dattani M.T., Hindmarsh P.C., Achermann J.C. A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor (GNRHR) presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J. Clin. Endocrinol. Metab. 2006.
    • (2006) J. Clin. Endocrinol. Metab.
    • Lin, L.1    Conway, G.S.2    Hill, N.R.3    Dattani, M.T.4    Hindmarsh, P.C.5    Achermann, J.C.6
  • 58
    • 0000921305 scopus 로고
    • Teratolagia: falta total de los nervios olfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril
    • Maestre de San Juan A. Teratolagia: falta total de los nervios olfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril. El Siglo Med. 1856, 3:211-221.
    • (1856) El Siglo Med. , vol.3 , pp. 211-221
    • Maestre de San Juan, A.1
  • 60
    • 2942750179 scopus 로고    scopus 로고
    • Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat
    • Matsui H., Takatsu Y., Kumano S., Matsumoto H., Ohtaki T. Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat. Biochem. Biophys. Res. Commun. 2004, 320:383-388.
    • (2004) Biochem. Biophys. Res. Commun. , vol.320 , pp. 383-388
    • Matsui, H.1    Takatsu, Y.2    Kumano, S.3    Matsumoto, H.4    Ohtaki, T.5
  • 61
    • 0030792274 scopus 로고    scopus 로고
    • Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study
    • Mayston M.J., Harrison L.M., Quinton R., Stephens J.A., Krams M., Bouloux P.M. Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study. Brain 1997, 120(Pt 7):1199-1216.
    • (1997) Brain , vol.120 , Issue.PART 7 , pp. 1199-1216
    • Mayston, M.J.1    Harrison, L.M.2    Quinton, R.3    Stephens, J.A.4    Krams, M.5    Bouloux, P.M.6
  • 62
    • 0027940213 scopus 로고
    • Heparan sulfate fibroblast growth factor receptor complex: structure-function relationships
    • discussion 81-2
    • McKeehan W.L., Kan M. Heparan sulfate fibroblast growth factor receptor complex: structure-function relationships. Mol. Reprod. Dev. 1994, 39:69-81. discussion 81-2.
    • (1994) Mol. Reprod. Dev. , vol.39 , pp. 69-81
    • McKeehan, W.L.1    Kan, M.2
  • 64
    • 0031916557 scopus 로고    scopus 로고
    • An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination
    • Meyers E.N., Lewandoski M., Martin G.R. An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination. Nat. Genet. 1998, 18:136-141.
    • (1998) Nat. Genet. , vol.18 , pp. 136-141
    • Meyers, E.N.1    Lewandoski, M.2    Martin, G.R.3
  • 65
    • 3242734544 scopus 로고    scopus 로고
    • GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone
    • Meysing A.U., Kanasaki H., Bedecarrats G.Y., Acierno J.S., Conn P.M., Martin K.A., Seminara S.B., Hall J.E., Crowley W.F., Kaiser U.B. GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. J. Clin. Endocrinol. Metab. 2004, 89:3189-3198.
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 3189-3198
    • Meysing, A.U.1    Kanasaki, H.2    Bedecarrats, G.Y.3    Acierno, J.S.4    Conn, P.M.5    Martin, K.A.6    Seminara, S.B.7    Hall, J.E.8    Crowley, W.F.9    Kaiser, U.B.10
  • 66
    • 3042795444 scopus 로고    scopus 로고
    • Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)
    • Miura K., Acierno J.S., Seminara S.B. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J. Hum. Genet. 2004, 49:265-268.
    • (2004) J. Hum. Genet. , vol.49 , pp. 265-268
    • Miura, K.1    Acierno, J.S.2    Seminara, S.B.3
  • 75
    • 0019425377 scopus 로고
    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon R.A., Graham J.M., Zonana J., Yong S.L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J. Pediatr. 1981, 99:223-227.
    • (1981) J. Pediatr. , vol.99 , pp. 223-227
    • Pagon, R.A.1    Graham, J.M.2    Zonana, J.3    Yong, S.L.4
  • 76
    • 85047684917 scopus 로고    scopus 로고
    • Variation in the timing of puberty: clinical spectrum and genetic investigation
    • Palmert M.R., Boepple P.A. 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
  • 78
    • 0022901112 scopus 로고
    • Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients
    • Pawlowitzki I.H., Diekstall P., Schadel A., Miny P. Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. Am. J. Med. Genet. 1987, 26:473-479.
    • (1987) Am. J. Med. Genet. , vol.26 , pp. 473-479
    • Pawlowitzki, I.H.1    Diekstall, P.2    Schadel, A.3    Miny, P.4
  • 81
    • 0022646469 scopus 로고
    • The NIH experience with precocious puberty: diagnostic subgroups and response to short-term luteinizing hormone releasing hormone analogue therapy
    • Pescovitz O.H., Comite F., Hench K., Barnes K., McNemar A., Foster C., Kenigsberg D., Loriaux D.L., Cutler G.B. The NIH experience with precocious puberty: diagnostic subgroups and response to short-term luteinizing hormone releasing hormone analogue therapy. J. Pediatr. 1986, 108:47-54.
    • (1986) J. Pediatr. , vol.108 , pp. 47-54
    • Pescovitz, O.H.1    Comite, F.2    Hench, K.3    Barnes, K.4    McNemar, A.5    Foster, C.6    Kenigsberg, D.7    Loriaux, D.L.8    Cutler, G.B.9
  • 83
    • 0034978722 scopus 로고    scopus 로고
    • The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor
    • Pitteloud N., Boepple P.A., DeCruz S., Valkenburgh S.B., Crowley W.F., Hayes F.J. The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J. Clin. Endocrinol. Metab. 2001, 86:2470-2475.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 2470-2475
    • Pitteloud, N.1    Boepple, P.A.2    DeCruz, S.3    Valkenburgh, S.B.4    Crowley, W.F.5    Hayes, F.J.6
  • 84
    • 0036149989 scopus 로고    scopus 로고
    • The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism
    • Pitteloud N., Hayes F.J., Boepple P.A., DeCruz S., Seminara S.B., MacLaughlin D.T., Crowley W.F. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 2002, 87:152-160.
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 152-160
    • Pitteloud, N.1    Hayes, F.J.2    Boepple, P.A.3    DeCruz, S.4    Seminara, S.B.5    MacLaughlin, D.T.6    Crowley, W.F.7
  • 87
    • 1342306108 scopus 로고    scopus 로고
    • Neurobiological mechanisms of puberty in higher primates
    • Plant T.M., Barker-Gibb M.L. Neurobiological mechanisms of puberty in higher primates. Hum. Reprod. Update 2004, 10:67-77.
    • (2004) Hum. Reprod. Update , vol.10 , pp. 67-77
    • Plant, T.M.1    Barker-Gibb, M.L.2
  • 88
    • 30944445420 scopus 로고    scopus 로고
    • Repetitive activation of hypothalamic G protein-coupled receptor 54 with intravenous pulses of kisspeptin in the juvenile monkey (Macaca mulatta) elicits a sustained train of gonadotropin-releasing hormone discharges
    • Plant T.M., Ramaswamy S., Dipietro M.J. Repetitive activation of hypothalamic G protein-coupled receptor 54 with intravenous pulses of kisspeptin in the juvenile monkey (Macaca mulatta) elicits a sustained train of gonadotropin-releasing hormone discharges. Endocrinology 2006, 147:1007-1013.
    • (2006) Endocrinology , vol.147 , pp. 1007-1013
    • Plant, T.M.1    Ramaswamy, S.2    Dipietro, M.J.3
  • 91
    • 0032743449 scopus 로고    scopus 로고
    • Inverse relationship between serum inhibin B and FSH levels in prepubertal boys with cryptorchidism
    • Raivio T., Dunkel L. Inverse relationship between serum inhibin B and FSH levels in prepubertal boys with cryptorchidism. Pediatr. Res. 1999, 46:496-500.
    • (1999) Pediatr. Res. , vol.46 , pp. 496-500
    • Raivio, T.1    Dunkel, L.2
  • 93
    • 0043208839 scopus 로고    scopus 로고
    • Fgfr mRNA isoforms in craniofacial bone development
    • Rice D.P., Rice R., Thesleff I. Fgfr mRNA isoforms in craniofacial bone development. Bone 2003, 33:14-27.
    • (2003) Bone , vol.33 , pp. 14-27
    • Rice, D.P.1    Rice, R.2    Thesleff, I.3
  • 96
  • 97
    • 0024470630 scopus 로고
    • Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
    • Schwanzel-Fukuda M., Bick D., Pfaff D.W. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res. Mol. Brain Res. 1989, 6:311-326.
    • (1989) Brain Res. Mol. Brain Res. , vol.6 , pp. 311-326
    • Schwanzel-Fukuda, M.1    Bick, D.2    Pfaff, D.W.3
  • 99
    • 0034454605 scopus 로고    scopus 로고
    • Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations
    • Seminara S.B., Beranova M., Oliveira L.M., Martin K.A., Crowley W.F., Hall J.E. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. J. Clin. Endocrinol. Metab. 2000, 85:556-562.
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 556-562
    • Seminara, S.B.1    Beranova, M.2    Oliveira, L.M.3    Martin, K.A.4    Crowley, W.F.5    Hall, J.E.6
  • 101
    • 33645884139 scopus 로고    scopus 로고
    • Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications
    • Seminara S.B., Dipietro M.J., Ramaswamy S., Crowley W.F., Plant T.M. Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications. Endocrinology 2006, 147:2122-2126.
    • (2006) Endocrinology , vol.147 , pp. 2122-2126
    • Seminara, S.B.1    Dipietro, M.J.2    Ramaswamy, S.3    Crowley, W.F.4    Plant, T.M.5
  • 106
    • 34047226334 scopus 로고    scopus 로고
    • Kisspeptin expression in the brain: catalyst for the initiation of puberty
    • Smith J.T., Clarke I.J. Kisspeptin expression in the brain: catalyst for the initiation of puberty. Rev. Endocr. Metab. Disord. 2007, 8:1-9.
    • (2007) Rev. Endocr. Metab. Disord. , vol.8 , pp. 1-9
    • Smith, J.T.1    Clarke, I.J.2
  • 107
    • 0035723564 scopus 로고    scopus 로고
    • A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene
    • Soderlund D., Canto P., de la Chesnaye E., Ulloa-Aguirre A., Mendez J.P. A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. Clin. Endocrinol. (Oxf.) 2001, 54:493-498.
    • (2001) Clin. Endocrinol. (Oxf.) , vol.54 , pp. 493-498
    • Soderlund, D.1    Canto, P.2    de la Chesnaye, E.3    Ulloa-Aguirre, A.4    Mendez, J.P.5
  • 108
    • 0031787628 scopus 로고    scopus 로고
    • Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner
    • Soussi-Yanicostas N., Faivre-Sarrailh C., Hardelin J.P., Levilliers J., Rougon G., Petit C. Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner. J. Cell Sci. 1998, 111(Pt 19):2953-2965.
    • (1998) J. Cell Sci. , vol.111 , Issue.PART 19 , pp. 2953-2965
    • Soussi-Yanicostas, N.1    Faivre-Sarrailh, C.2    Hardelin, J.P.3    Levilliers, J.4    Rougon, G.5    Petit, C.6
  • 109
    • 0037133961 scopus 로고    scopus 로고
    • Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons
    • Soussi-Yanicostas N., de Castro F., Julliard A.K., Perfettini I., Chedotal A., Petit C. Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell 2002, 109:217-228.
    • (2002) Cell , vol.109 , pp. 217-228
    • Soussi-Yanicostas, N.1    de Castro, F.2    Julliard, A.K.3    Perfettini, I.4    Chedotal, A.5    Petit, C.6
  • 113
    • 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., Aumas C., Admoni O., de Roux N. 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    Aumas, C.4    Admoni, O.5    de Roux, N.6
  • 114
    • 0035112245 scopus 로고    scopus 로고
    • Neurobiological mechanisms of the onset of puberty in primates
    • Terasawa E., Fernandez D.L. 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
  • 118
    • 77953903045 scopus 로고    scopus 로고
    • Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
    • Trarbach E.B., Teles M.G., Costa E.M., Abreu A.P., Garmes H.M., Guerra G., Baptista M.T., de Castro M., Mendonca B.B., Latronico A.C. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. Clin. Endocrinol. (Oxf.) 2009.
    • (2009) Clin. Endocrinol. (Oxf.)
    • Trarbach, E.B.1    Teles, M.G.2    Costa, E.M.3    Abreu, A.P.4    Garmes, H.M.5    Guerra, G.6    Baptista, M.T.7    de Castro, M.8    Mendonca, B.B.9    Latronico, A.C.10
  • 119
    • 33645279570 scopus 로고    scopus 로고
    • Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome
    • Tsai P.S., Gill J.C. Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome. Nat. Clin. Pract. Endocrinol. Metab. 2006, 2:160-171.
    • (2006) Nat. Clin. Pract. Endocrinol. Metab. , vol.2 , pp. 160-171
    • Tsai, P.S.1    Gill, J.C.2
  • 120
    • 0036532031 scopus 로고    scopus 로고
    • Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
    • Vermeulen S., Messiaen L., Scheir P., De Bie S., Speleman F., De Paepe A. Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. Am. J. Med. Genet. 2002, 108:315-318.
    • (2002) Am. J. Med. Genet. , vol.108 , pp. 315-318
    • Vermeulen, S.1    Messiaen, L.2    Scheir, P.3    De Bie, S.4    Speleman, F.5    De Paepe, A.6
  • 123
    • 0020554722 scopus 로고
    • The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review
    • White B.J., Rogol A.D., Brown K.S., Lieblich J.M., Rosen S.W. The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. Am. J. Med. Genet. 1983, 15:417-435.
    • (1983) Am. J. Med. Genet. , vol.15 , pp. 417-435
    • White, B.J.1    Rogol, A.D.2    Brown, K.S.3    Lieblich, J.M.4    Rosen, S.W.5
  • 124
    • 0000678016 scopus 로고
    • Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode
    • Wray S., Grant P., Gainer H. Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode. Proc. Natl. Acad. Sci. U.S.A. 1989, 86:8132-8136.
    • (1989) Proc. Natl. Acad. Sci. U.S.A. , vol.86 , pp. 8132-8136
    • Wray, S.1    Grant, P.2    Gainer, H.3


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