메뉴 건너뛰기




Volumn 337, Issue 22, 1997, Pages 1597-1602

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN RECEPTOR;

EID: 0030698188     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199711273372205     Document Type: Article
Times cited : (456)

References (33)
  • 1
    • 0025083939 scopus 로고
    • Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: Close linkage to the hypervariable repeat sequence CRI-S232
    • Erratum, Am J Hum Genet 1990;47:883
    • Meitinger T, Heye B, Petit C, et al. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet 1990;47:664-9. [Erratum, Am J Hum Genet 1990;47:883.]
    • (1990) Am J Hum Genet , vol.47 , pp. 664-669
    • Meitinger, T.1    Heye, B.2    Petit, C.3
  • 2
    • 0026642442 scopus 로고
    • Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
    • Bick D, Franco B, Sherins RJ, et al. Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med 1992;326:1752-5.
    • (1992) N Engl J Med , vol.326 , pp. 1752-1755
    • Bick, D.1    Franco, B.2    Sherins, R.J.3
  • 3
  • 4
    • 0026701165 scopus 로고
    • X chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene
    • Hardelin JP, Levilliers J, del Castillo I, et al. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci U S A 1992;89:8190-4.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 8190-8194
    • Hardelin, J.P.1    Levilliers, J.2    Del Castillo, I.3
  • 5
    • 0023023132 scopus 로고
    • A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse
    • Mason AJ, Hayflick JS, Zoeller RT, et al. A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse. Science 1986;234:1366-71.
    • (1986) Science , vol.234 , pp. 1366-1371
    • Mason, A.J.1    Hayflick, J.S.2    Zoeller, R.T.3
  • 6
    • 0024339962 scopus 로고
    • Normal structure of the gonadotropin-releasing hormone (GnRH) gene in patients with GnRH deficiency and idiopathic hypogonadotropic hypogonadism
    • Weiss J, Crowley WF Jr, Jameson JL. Normal structure of the gonadotropin-releasing hormone (GnRH) gene in patients with GnRH deficiency and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1989;69:299-303.
    • (1989) J Clin Endocrinol Metab , vol.69 , pp. 299-303
    • Weiss, J.1    Crowley Jr., W.F.2    Jameson, J.L.3
  • 7
    • 0025350773 scopus 로고
    • Analysis of gonadotropin-releasing hormone gene structure in families with familial central precocious puberty and idiopathic hypogonadotropic hypogonadism
    • Nakayama Y, Wondisford FE, Lash RW, et al. Analysis of gonadotropin-releasing hormone gene structure in families with familial central precocious puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1990;70:1233-8.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 1233-1238
    • Nakayama, Y.1    Wondisford, F.E.2    Lash, R.W.3
  • 8
    • 0026052588 scopus 로고
    • Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotropic hypogonadism
    • Weiss J, Adams E, Whitcomb RW, Crowley WF Jr, Jameson JL. Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotropic hypogonadism. Biol Reprod 1991;45:743-7.
    • (1991) Biol Reprod , vol.45 , pp. 743-747
    • Weiss, J.1    Adams, E.2    Whitcomb, R.W.3    Crowley Jr., W.F.4    Jameson, J.L.5
  • 9
    • 0345035892 scopus 로고    scopus 로고
    • The prevalence and potential effects of a gonadotropin releasing hormone gene point mutation in idiopathic hypogonadism
    • San Francisco, June 12-15, 1996. Bethesda, Md.: Endocrine Society Press, abstract
    • Layman LC, Peak DB, Jin M. The prevalence and potential effects of a gonadotropin releasing hormone gene point mutation in idiopathic hypogonadism. In: Program and abstracts of the 10th International Congress of Endocrinology, San Francisco, June 12-15, 1996. Bethesda, Md.: Endocrine Society Press, 1996:855. abstract.
    • (1996) Program and Abstracts of the 10th International Congress of Endocrinology , pp. 855
    • Layman, L.C.1    Peak, D.B.2    Jin, M.3
  • 10
    • 0026794339 scopus 로고
    • Molecular cloning and expression of cDNA encoding the murine gonadotropin-releasing hormone receptor
    • Reinhart J, Mertz LM, Catt KJ. Molecular cloning and expression of cDNA encoding the murine gonadotropin-releasing hormone receptor. J Biol Chem 1992;267:21281-4.
    • (1992) J Biol Chem , vol.267 , pp. 21281-21284
    • Reinhart, J.1    Mertz, L.M.2    Catt, K.J.3
  • 11
    • 0026645598 scopus 로고
    • Cloning and functional expression of a mouse gonadotropin-releasing hormone receptor
    • Tsutsumi M, Zhou W, Millar RP, et al. Cloning and functional expression of a mouse gonadotropin-releasing hormone receptor. Mol Endocrinol 1992;6:1163-9.
    • (1992) Mol Endocrinol , vol.6 , pp. 1163-1169
    • Tsutsumi, M.1    Zhou, W.2    Millar, R.P.3
  • 13
    • 0027475847 scopus 로고
    • Cloning and characterization of the human GnRH receptor
    • Chi L, Zhou W, Prikhozhan A, et al. Cloning and characterization of the human GnRH receptor. Mol Cell Endocrinol 1993;91:R1-R6.
    • (1993) Mol Cell Endocrinol , vol.91
    • Chi, L.1    Zhou, W.2    Prikhozhan, A.3
  • 14
    • 0028092770 scopus 로고
    • Gonadotropin-releasing hormone receptors: Structure and signal transduction pathways
    • Stojilkovic SS, Reinhart J, Catt KJ. Gonadotropin-releasing hormone receptors: structure and signal transduction pathways. Endocr Rev 1994; 15:462-99.
    • (1994) Endocr Rev , vol.15 , pp. 462-499
    • Stojilkovic, S.S.1    Reinhart, J.2    Catt, K.J.3
  • 15
    • 0028234277 scopus 로고
    • The human gonadotropin-releasing hormone (GnRH) receptor gene: Cloning, genomic organization and chromosomal assignment
    • Fan NC, Jeung EB, Peng C, Olofsson JI, Krisinger J, Leung PC. The human gonadotropin-releasing hormone (GnRH) receptor gene: cloning, genomic organization and chromosomal assignment. Mol Cell Endocrinol 1994;103:R1-R6.
    • (1994) Mol Cell Endocrinol , vol.103
    • Fan, N.C.1    Jeung, E.B.2    Peng, C.3    Olofsson, J.I.4    Krisinger, J.5    Leung, P.C.6
  • 16
    • 0029098092 scopus 로고
    • Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409
    • Kottler ML, Lorenzo F, Bergametti F, Commercon P, Souchier C, Counis R. Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409. Hum Genet 1995;96:477-80.
    • (1995) Hum Genet , vol.96 , pp. 477-480
    • Kottler, M.L.1    Lorenzo, F.2    Bergametti, F.3    Commercon, P.4    Souchier, C.5    Counis, R.6
  • 17
    • 0027069475 scopus 로고
    • Identification of pulses in hormone time series using outlier detection methods
    • Thomas G, Plu G, Thalabard JC. Identification of pulses in hormone time series using outlier detection methods. Stat Med 1992;11:2133-45.
    • (1992) Stat Med , vol.11 , pp. 2133-2145
    • Thomas, G.1    Plu, G.2    Thalabard, J.C.3
  • 18
    • 0028861803 scopus 로고
    • The human gonadotropin-releasing hormone receptor gene: Complete structure including multiple promoters, transcription initiation sites, and polyadenylation signals
    • Fan NC, Peng C, Krisinger J, Leung PC. The human gonadotropin-releasing hormone receptor gene: complete structure including multiple promoters, transcription initiation sites, and polyadenylation signals. Mol Cell Endocrinol 1995;107:R1-R8.
    • (1995) Mol Cell Endocrinol , vol.107
    • Fan, N.C.1    Peng, C.2    Krisinger, J.3    Leung, P.C.4
  • 19
    • 0029782325 scopus 로고    scopus 로고
    • Dependence of agonist activation on an aromatic moiety in the DPLIY motif of the gonadotropin-releasing hormone receptor
    • Arora KK, Cheng Z, Catt KJ. Dependence of agonist activation on an aromatic moiety in the DPLIY motif of the gonadotropin-releasing hormone receptor. Mol Endocrinol 1996;10:979-86.
    • (1996) Mol Endocrinol , vol.10 , pp. 979-986
    • Arora, K.K.1    Cheng, Z.2    Catt, K.J.3
  • 20
    • 0023674735 scopus 로고
    • Deregulation of hamster fibroblast proliferation by mutated ras oncogenes is not mediated by constitutive activation of phosphoinositide-specific phospholipase C
    • Seuwen K, Lagarde A, Pouyssegur J. Deregulation of hamster fibroblast proliferation by mutated ras oncogenes is not mediated by constitutive activation of phosphoinositide-specific phospholipase C. EMBO J 1988;7:161-8.
    • (1988) EMBO J , vol.7 , pp. 161-168
    • Seuwen, K.1    Lagarde, A.2    Pouyssegur, J.3
  • 21
    • 0025139096 scopus 로고
    • Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men
    • Whitcomb RW, Crowley WF Jr. Clinical review 4: diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men. J Clin Endocrinol Metab 1990;70:3-7.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 3-7
    • Whitcomb, R.W.1    Crowley Jr., W.F.2
  • 22
    • 0030989828 scopus 로고    scopus 로고
    • Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
    • Clifton-Bligh RJ, Gregory JW, Ludgate M, et al. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab 1997;82:1094-100.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1094-1100
    • Clifton-Bligh, R.J.1    Gregory, J.W.2    Ludgate, M.3
  • 23
    • 10544240361 scopus 로고    scopus 로고
    • Four families with loss of function mutations of the thyrotropin receptor
    • de Roux N, Misrahi M, Brauner R, et al. Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab 1996;81:4229-35.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4229-4235
    • De Roux, N.1    Misrahi, M.2    Brauner, R.3
  • 25
    • 0030025051 scopus 로고    scopus 로고
    • Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene
    • Latronico AC, Anasti J, Arnhold IJP, et al. Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med 1996;334:507-12.
    • (1996) N Engl J Med , vol.334 , pp. 507-512
    • Latronico, A.C.1    Anasti, J.2    Arnhold, I.J.P.3
  • 26
    • 0029775563 scopus 로고    scopus 로고
    • Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
    • Laue LL, Wu SM, Kudo M, et al. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Mol Endocrinol 1996;10:987-97.
    • (1996) Mol Endocrinol , vol.10 , pp. 987-997
    • Laue, L.L.1    Wu, S.M.2    Kudo, M.3
  • 27
    • 8544274427 scopus 로고    scopus 로고
    • Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
    • Misrahi M, Meduri G, Pissard S, et al. Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab 1997;82:2159-65.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2159-2165
    • Misrahi, M.1    Meduri, G.2    Pissard, S.3
  • 28
    • 8244235128 scopus 로고    scopus 로고
    • A novel mechanism for isolated central hypothyroidism: Inactivating mutations in the thyrotropin-releasing hormone receptor gene
    • Collu R, Tang J, Castagné J, et al. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. J Clin Endocrinol Metab 1997;82:1561-5.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1561-1565
    • Collu, R.1    Tang, J.2    Castagné, J.3
  • 29
    • 0021776948 scopus 로고
    • The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women
    • Crowley WF Jr, Filicori M, Spratt DI, Santoro NF. The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women. Recent Prog Horm Res 1985;41:473-531.
    • (1985) Recent Prog Horm Res , vol.41 , pp. 473-531
    • Crowley Jr., W.F.1    Filicori, M.2    Spratt, D.I.3    Santoro, N.F.4
  • 31
    • 0029666304 scopus 로고    scopus 로고
    • Asn102 of the gonadotropin-releasing hormone receptor is a critical determinant of potency for agonists containing C-terminal glycinamide
    • Davidson JS, McArdle CA, Davies P, Elario R, Flanagan CA, Millar RP. Asn102 of the gonadotropin-releasing hormone receptor is a critical determinant of potency for agonists containing C-terminal glycinamide. J Biol Chem 1996;271:15510-4.
    • (1996) J Biol Chem , vol.271 , pp. 15510-15514
    • Davidson, J.S.1    McArdle, C.A.2    Davies, P.3    Elario, R.4    Flanagan, C.A.5    Millar, R.P.6
  • 32


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.