메뉴 건너뛰기




Volumn 5, Issue JUL, 2014, Pages

Reproduction, smell, and neurodevelopmental disorders: Genetic defects in different hypogonadotropic hypogonadal syndromes

Author keywords

Genetics; Hypogonadotropic hypogonadism; Kallman syndrome; Kisspeptin; Male; Olfaction; Reproduction

Indexed keywords

FIBROBLAST GROWTH FACTOR; G PROTEIN COUPLED RECEPTOR 54; GONADORELIN; GONADOTROPIN; LEPTIN RECEPTOR; SEMAPHORIN 3A; TRANSCRIPTION FACTOR HESX1;

EID: 84905487657     PISSN: None     EISSN: 16642392     Source Type: Journal    
DOI: 10.3389/fendo.2014.00109     Document Type: Review
Times cited : (85)

References (52)
  • 2
    • 77749255232 scopus 로고    scopus 로고
    • The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions
    • doi: (Oxf) 10.1111/j.1365-2265.2009.03687.x
    • Semple R, Topaloglu KA. The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions. Clin Endocrinol (Oxf) (2010) 72(4):427-35. doi: 10.1111/j.1365-2265.2009.03687.x
    • (2010) Clin Endocrinol , vol.72 , Issue.4 , pp. 427-435
    • Semple, R.1    Topaloglu, K.A.2
  • 3
    • 0031059199 scopus 로고    scopus 로고
    • Adult-onset idiopathic hypogonadotropic hypogonadism - a treatable form of male infertility
    • doi:10.1056/NEJM199702063360604
    • Nachtigall LB, Boepple PA, Pralong FP, Crowley WF Jr. Adult-onset idiopathic hypogonadotropic hypogonadism - a treatable form of male infertility. N Engl J Med (1997) 336:410-5. doi:10.1056/NEJM199702063360604
    • (1997) N Engl J Med , vol.336 , pp. 410-415
    • Nachtigall, L.B.1    Boepple, P.A.2    Pralong, F.P.3    Crowley, W.F.4
  • 4
    • 84886934035 scopus 로고    scopus 로고
    • Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease
    • doi:10.1113/expphysiol.2013.071910
    • Lippincott MF, True C, Seminara SB. Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease. Exp Physiol (2013) 98:1522-7. doi:10.1113/expphysiol.2013.071910
    • (2013) Exp Physiol , vol.98 , pp. 1522-1527
    • Lippincott, M.F.1    True, C.2    Seminara, S.B.3
  • 5
    • 58149389470 scopus 로고    scopus 로고
    • Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment
    • doi:10.1210/jc.2008-1584
    • Valdes-Socin H, Salvi R, Thiry A, Daly AF, Pralong FP, Gaillard R, et al. Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment. J Clin Endocrinol Metab (2009) 94:3-4. doi:10.1210/jc.2008-1584
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3-4
    • Valdes-Socin, H.1    Salvi, R.2    Thiry, A.3    Daly, A.F.4    Pralong, F.P.5    Gaillard, R.6
  • 6
    • 33749540842 scopus 로고    scopus 로고
    • Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia
    • doi:10.1210/jc.2005-2793
    • Trarbach EB, Costa EM, Versiani B, de Castro M, Matias Baptista MT, Mendes Garmes H, et al. Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. J Clin Endocrinol Metab (2006) 91:4006-12. doi:10.1210/jc.2005-2793
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4006-4012
    • Trarbach, E.B.1    Costa, E.M.2    Versiani, B.3    de Castro, M.4    Matias Baptista, M.T.5    Mendes Garmes, H.6
  • 7
    • 33646567190 scopus 로고    scopus 로고
    • Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    • doi:10.1073/pnas.0600962103U S A
    • Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, et al. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A (2006) 103:6281-6. doi:10.1073/pnas.0600962103
    • (2006) Proc Natl Acad Sci , vol.103 , pp. 6281-6286
    • Pitteloud, N.1    Acierno, J.S.2    Meysing, A.3    Eliseenkova, A.V.4    Ma, J.5    Ibrahimi, O.A.6
  • 8
    • 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
    • doi:10.1210/jcem.87.1.8131
    • Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT, et al. 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) 87:152-60. doi:10.1210/jcem.87.1.8131
    • (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
  • 9
  • 11
    • 84855473428 scopus 로고    scopus 로고
    • Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications
    • doi:10.1210/jc.2011-2041
    • Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, et al. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab (2012) 97:136-44. doi:10.1210/jc.2011-2041
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 136-144
    • Lewkowitz-Shpuntoff, H.M.1    Hughes, V.A.2    Plummer, L.3    Au, M.G.4    Doty, R.L.5    Seminara, S.B.6
  • 13
    • 15944364441 scopus 로고    scopus 로고
    • Reversible Kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
    • doi:10.1210/jc.2004-1361
    • Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr. Reversible Kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab (2005) 90:1317-22. doi:10.1210/jc.2004-1361
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1317-1322
    • Pitteloud, N.1    Acierno, J.S.2    Meysing, A.U.3    Dwyer, A.A.4    Hayes, F.J.5    Crowley, W.F.6
  • 14
    • 77954517193 scopus 로고    scopus 로고
    • 3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
    • doi:10.1210/jc.2009-2320
    • 3 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) 95:2857-67. doi:10.1210/jc.2009-2320
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 2857-2867
    • Gianetti, E.1    Tusset, C.2    Noel, S.D.3    Au, M.G.4    Dwyer, A.A.5    Hughes, V.A.6
  • 15
    • 84862549630 scopus 로고    scopus 로고
    • Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations
    • doi:10.1371/journal.pone.0039450
    • Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. PLoS One (2012) 7:e39450. doi:10.1371/journal.pone.0039450
    • (2012) PLoS One , vol.7
    • Laitinen, E.M.1    Tommiska, J.2    Sane, T.3    Vaaralahti, K.4    Toppari, J.5    Raivio, T.6
  • 16
    • 33750902966 scopus 로고    scopus 로고
    • Kallmann's syndrome, a neuronal migration defect
    • doi:10.1007/s00018-005-5604-3
    • Cariboni A, Maggi R. Kallmann's syndrome, a neuronal migration defect. Cell Mol Life Sci (2006) 63(21):2512-26. doi:10.1007/s00018-005-5604-3
    • (2006) Cell Mol Life Sci , vol.63 , Issue.21 , pp. 2512-2526
    • Cariboni, A.1    Maggi, R.2
  • 17
    • 67649390886 scopus 로고    scopus 로고
    • Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation
    • doi:10.1056/NEJMoa0900136
    • Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, et al. Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. N Engl J Med (2009) 360:2742-8. doi:10.1056/NEJMoa0900136
    • (2009) N Engl J Med , vol.360 , pp. 2742-2748
    • Bouligand, J.1    Ghervan, C.2    Tello, J.A.3    Brailly-Tabard, S.4    Salenave, S.5    Chanson, P.6
  • 18
    • 67650917931 scopus 로고    scopus 로고
    • GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
    • U S Adoi:10.1073/pnas.0903449106
    • Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, et al. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A (2009) 106:11703-8. doi:10.1073/pnas.0903449106
    • (2009) Proc Natl Acad Sci , vol.106 , pp. 11703-11708
    • Chan, Y.M.1    de Guillebon, A.2    Lang-Muritano, M.3    Plummer, L.4    Cerrato, F.5    Tsiaras, S.6
  • 20
  • 21
    • 84872507024 scopus 로고    scopus 로고
    • Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation
    • doi:10.1371/journal.pone.0053896
    • Brioude F, Bouligand J, Francou B, Fagart J, Roussel R, Viengchareun S, et al. Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation. PLoS One (2013) 8(1):e53896. doi:10.1371/journal.pone.0053896
    • (2013) PLoS One , vol.8 , Issue.1
    • Brioude, F.1    Bouligand, J.2    Francou, B.3    Fagart, J.4    Roussel, R.5    Viengchareun, S.6
  • 22
    • 33947493910 scopus 로고    scopus 로고
    • Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54
    • doi:10.1210/jc.2006-2147
    • 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) 92:1137-44. doi:10.1210/jc.2006-2147
    • (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
  • 23
    • 84905474825 scopus 로고    scopus 로고
    • High plasma kisspeptins in obese men with acquired hypogonadism and in men with congenital hypogonadism: pilot study of plasma kisspeptins variations before and after hCG and testosterone administration
    • Valdes-Socin H, Cavalier E, Beckaert A, Carlisi A, Chavez M, Beckers A. High plasma kisspeptins in obese men with acquired hypogonadism and in men with congenital hypogonadism: pilot study of plasma kisspeptins variations before and after hCG and testosterone administration. Ann Endocrinol (Paris) (2011).
    • (2011) Ann Endocrinol (Paris)
    • Valdes-Socin, H.1    Cavalier, E.2    Beckaert, A.3    Carlisi, A.4    Chavez, M.5    Beckers, A.6
  • 24
    • 84905500341 scopus 로고    scopus 로고
    • Expression and spatio-temporal distribution of KISS1 and its receptor KISSR in human normal and pathological placentae
    • (Paris)doi:10.1016/j.ando.2012.07.494
    • Valdes-Socin H, Munaut C, Chavez M, Chantrain F, Delbecque K, Delvenne P, et al. Expression and spatio-temporal distribution of KISS1 and its receptor KISSR in human normal and pathological placentae. Ann Endocrinol (Paris) (2012) 4:374. doi:10.1016/j.ando.2012.07.494
    • (2012) Ann Endocrinol , vol.4 , pp. 374
    • Valdes-Socin, H.1    Munaut, C.2    Chavez, M.3    Chantrain, F.4    Delbecque, K.5    Delvenne, P.6
  • 25
    • 61349091041 scopus 로고    scopus 로고
    • 3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
    • doi:10.1038/ng.306
    • 3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nat Genet (2009) 41:354-8. doi:10.1038/ng.306
    • (2009) Nat Genet , vol.41 , pp. 354-358
    • Topaloglu, A.K.1    Reimann, F.2    Guclu, M.3    Yalin, A.S.4    Kotan, D.5    Porter, K.M.6
  • 26
    • 70349898626 scopus 로고    scopus 로고
    • A novel missense mutation in the first extracellular loop of the neurokinin B receptor causes hypogonadotropic hypogonadism
    • doi:10.1210/jc.2009-0551
    • Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, et al. A novel missense mutation in the first extracellular loop of the neurokinin B receptor causes hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2009) 94:3633-9. doi:10.1210/jc.2009-0551
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3633-3639
    • Guran, T.1    Tolhurst, G.2    Bereket, A.3    Rocha, N.4    Porter, K.5    Turan, S.6
  • 28
    • 33846409122 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor
    • doi:10.1056/NEJMoa063988
    • Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med (2007) 356:237-47. doi:10.1056/NEJMoa063988
    • (2007) N Engl J Med , vol.356 , pp. 237-247
    • Farooqi, I.S.1    Wangensteen, T.2    Collins, S.3    Kimber, W.4    Matarese, G.5    Keogh, J.M.6
  • 29
    • 0001953286 scopus 로고
    • Síndrome hipoandrogénico con gametogénesis conservada: clasificación de la insuficiencia testicular
    • Pasqualini RQ, Bur GE. Síndrome hipoandrogénico con gametogénesis conservada: clasificación de la insuficiencia testicular. Rev Asoc Med Argent (1950) 64:15-30.
    • (1950) Rev Asoc Med Argent , vol.64 , pp. 15-30
    • Pasqualini, R.Q.1    Bur, G.E.2
  • 30
    • 0026335545 scopus 로고
    • Hypogonadism caused by a single amino acid substitution in the subunit of luteinizing hormone
    • doi:10.1056/NEJM199201163260306
    • Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF, Jameson JL. Hypogonadism caused by a single amino acid substitution in the subunit of luteinizing hormone. N Engl J Med (1992) 326:179-83. doi:10.1056/NEJM199201163260306
    • (1992) N Engl J Med , vol.326 , pp. 179-183
    • Weiss, J.1    Axelrod, L.2    Whitcomb, R.W.3    Harris, P.E.4    Crowley, W.F.5    Jameson, J.L.6
  • 31
    • 10344262033 scopus 로고    scopus 로고
    • Hypogonadism in a patient with a mutation in the luteinizing hormone-subunit gene
    • doi:10.1056/NEJMoa040326
    • Valdes-Socin H, Salvi R, Daly AF, Gaillard RC, Quatresooz P, Tebeu P-M, et al. Hypogonadism in a patient with a mutation in the luteinizing hormone-subunit gene. N Engl J Med (2004) 351:2619-25. doi:10.1056/NEJMoa040326
    • (2004) N Engl J Med , vol.351 , pp. 2619-2625
    • Valdes-Socin, H.1    Salvi, R.2    Daly, A.F.3    Gaillard, R.C.4    Quatresooz, P.5    Tebeu, P.-M.6
  • 33
    • 70350754572 scopus 로고    scopus 로고
    • Normal spermatogenesis in a man with mutant luteinizing hormone
    • doi:10.1056/NEJMoa0805792
    • Achard C, Courtillot C, Lahuna O, Me'duri G, Soufir JC, Lie're P, et al. Normal spermatogenesis in a man with mutant luteinizing hormone. N Engl J Med (2009) 361:1856-63. doi:10.1056/NEJMoa0805792
    • (2009) N Engl J Med , vol.361 , pp. 1856-1863
    • Achard, C.1    Courtillot, C.2    Lahuna, O.3    Me'duri, G.4    Soufir, J.C.5    Lie're, P.6
  • 34
    • 84866148802 scopus 로고    scopus 로고
    • Hypogonadism in a patient with two novel mutations of the luteinizing hormone -subunit gene expressed in a compound heterozygous form
    • doi:10.1210/jc.2012-1986
    • Basciani S, Watanabe M, Mariani S, Passeri M, Persichetti A, Fiore D, et al. Hypogonadism in a patient with two novel mutations of the luteinizing hormone -subunit gene expressed in a compound heterozygous form. J Clin Endocrinol Metab (2012) 97:3031-8. doi:10.1210/jc.2012-1986
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 3031-3038
    • Basciani, S.1    Watanabe, M.2    Mariani, S.3    Passeri, M.4    Persichetti, A.5    Fiore, D.6
  • 35
    • 84905474819 scopus 로고    scopus 로고
    • A tall man with hypogonadism. In: Wartofsky L, editor. Diagnostic Dilemmas: Images in Endocrinology
    • Washington DC:The Endocrine Society Press
    • Daly A, Valdes-Socin H, Beckers A. A tall man with hypogonadism. In: Wartofsky L, editor. Diagnostic Dilemmas: Images in Endocrinology. Washington DC: The Endocrine Society Press (2011). p. 204-7.
    • (2011) , pp. 204-207
    • Daly, A.1    Valdes-Socin, H.2    Beckers, A.3
  • 36
    • 0025940669 scopus 로고
    • The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
    • doi:10. 1016/0092-8674(91)
    • Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell (1991) 67:423-35. doi:10.1016/0092-8674(91)90193-3
    • (1991) Cell , vol.67 , pp. 423-435
    • Legouis, R.1    Hardelin, J.P.2    Levilliers, J.3    Claverie, J.M.4    Compain, S.5    Wunderle, V.6
  • 37
    • 12144288744 scopus 로고    scopus 로고
    • Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGR1, or KAL2) in five families and 18 sporadic patients
    • doi:10.1210/jc.2003-030476
    • Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, et al. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab (2004) 89:1079-88. doi:10.1210/jc.2003-030476
    • (2004) J Clin Endocrinol Metab , vol.89
    • Sato, N.1    Katsumata, N.2    Kagami, M.3    Hasegawa, T.4    Hori, N.5    Kawakita, S.6
  • 38
    • 33645279570 scopus 로고    scopus 로고
    • Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome
    • doi:10.1038/ncpendmet0119
    • Tsai PS, Gill JC. Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome. Nat Clin Pract Endocrinol Metab (2006) 2:160-71. doi:10.1038/ncpendmet0119
    • (2006) Nat Clin Pract Endocrinol Metab , vol.2 , pp. 160-171
    • Tsai, P.S.1    Gill, J.C.2
  • 39
    • 20244366799 scopus 로고    scopus 로고
    • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
    • doi:10.1038/ng1122
    • Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 33:463-5. doi:10.1038/ng1122
    • (2003) Nat Genet , vol.33 , pp. 463-465
    • Dodé, C.1    Levilliers, J.2    Dupont, J.M.3    De Paepe, A.4    Le Dû, N.5    Soussi-Yanicostas, N.6
  • 40
    • 33750471153 scopus 로고    scopus 로고
    • Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
    • doi:10.1371/journal.pgen.0020175
    • Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet (2006) 2(10):e175. doi:10.1371/journal.pgen.0020175
    • (2006) PLoS Genet , vol.2 , Issue.10
    • Dodé, C.1    Teixeira, L.2    Levilliers, J.3    Fouveaut, C.4    Bouchard, P.5    Kottler, M.L.6
  • 41
    • 84877260745 scopus 로고    scopus 로고
    • Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
    • doi:10.1016/j.ajhg.2013.04.008
    • Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, et al. Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet (2013) 92:725-43. doi:10.1016/j.ajhg.2013.04.008
    • (2013) Am J Hum Genet , vol.92 , pp. 725-743
    • Miraoui, H.1    Dwyer, A.A.2    Sykiotis, G.P.3    Plummer, L.4    Chung, W.5    Feng, B.6
  • 42
    • 51649125515 scopus 로고    scopus 로고
    • Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin releasing hormone deficiency: molecular genetics and clinical spectrum
    • doi:10.1210/jc.2007-2654
    • Cole LW, Sidis Y, Zhang CK, Quinton R, Plummer L, Pignatelli D, et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab (2008) 93:3551-9. doi:10.1210/jc.2007-2654
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3551-3559
    • Cole, L.W.1    Sidis, Y.2    Zhang, C.K.3    Quinton, R.4    Plummer, L.5    Pignatelli, D.6
  • 43
    • 33645219817 scopus 로고    scopus 로고
    • Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2
    • doi:10.1073/pnas.0508881103
    • Matsumoto S, Yamazaki C, Masumoto K, Nagano M, Naito M, Soga T, et al. Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci U S A (2006) 103:4140-5. doi:10.1073/pnas.0508881103
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 4140-4145
    • Matsumoto, S.1    Yamazaki, C.2    Masumoto, K.3    Nagano, M.4    Naito, M.5    Soga, T.6
  • 44
    • 84874903895 scopus 로고    scopus 로고
    • Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia
    • doi:10.1210/jc.2012-3067
    • McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, et al. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab (2013) 98:547-57. doi:10.1210/jc.2012-3067
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 547-557
    • McCabe, M.J.1    Gaston-Massuet, C.2    Gregory, L.C.3    Alatzoglou, K.S.4    Tziaferi, V.5    Sbai, O.6
  • 45
    • 0034661199 scopus 로고    scopus 로고
    • Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons
    • Kramer PR, Wray S. Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. Genes Dev (2000) 14:1824-34.
    • (2000) Genes Dev , vol.14 , pp. 1824-1834
    • Kramer, P.R.1    Wray, S.2
  • 46
    • 77957739987 scopus 로고    scopus 로고
    • WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    • doi:10.1016/j.ajhg.2010.08.018
    • Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, et al. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 87(4):465-79. doi:10.1016/j.ajhg.2010.08.018
    • (2010) Am J Hum Genet , vol.87 , Issue.4 , pp. 465-479
    • Kim, H.G.1    Ahn, J.W.2    Kurth, I.3    Ullmann, R.4    Kim, H.T.5    Kulharya, A.6
  • 47
    • 53249149000 scopus 로고    scopus 로고
    • Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    • doi:10.1016/j.ajhg.2008.09.005
    • Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 83:511-9. doi:10.1016/j.ajhg.2008.09.005
    • (2008) Am J Hum Genet , vol.83 , pp. 511-519
    • Kim, H.G.1    Kurth, I.2    Lan, F.3    Meliciani, I.4    Wenzel, W.5    Eom, S.H.6
  • 48
    • 84860732965 scopus 로고    scopus 로고
    • The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome
    • doi:10.1210/jc.2011-2652
    • Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, et al. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab (2012) 97(5):E858-62. doi:10.1210/jc.2011-2652
    • (2012) J Clin Endocrinol Metab , vol.97 , Issue.5
    • Bergman, J.E.1    de Ronde, W.2    Jongmans, M.C.3    Wolffenbuttel, B.H.4    Drop, S.L.5    Hermus, A.6
  • 49
    • 79960986103 scopus 로고    scopus 로고
    • Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
    • U S Adoi:10.1073/pnas.1102284108
    • Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, et al. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A (2011) 108:11524-9. doi:10.1073/pnas.1102284108
    • (2011) Proc Natl Acad Sci , vol.108 , pp. 11524-11529
    • Tornberg, J.1    Sykiotis, G.P.2    Keefe, K.3    Plummer, L.4    Hoang, X.5    Hall, J.E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.