메뉴 건너뛰기




Volumn 80, Issue 8, 1995, Pages 2490-2494

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ALPHA 1 ADRENERGIC RECEPTOR; CYCLIC AMP; GONADOTROPIN; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; THYROTROPIN RECEPTOR;

EID: 0029150958     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jcem.80.8.7629248     Document Type: Article
Times cited : (98)

References (22)
  • 1
    • 0020565481 scopus 로고
    • Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (Familial testotoxicosis): Effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases
    • Rosenthal SM, Grumbach MM, Kaplan SL. 1983 Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. J Clin Endocrinol Metab. 57: 571-579.
    • (1983) J Clin Endocrinol Metab , vol.57 , pp. 571-579
    • Rosenthal, S.M.1    Grumbach, M.M.2    Kaplan, S.L.3
  • 2
    • 84995837744 scopus 로고
    • Gonadotropin-independent sex-limited autosomal dominant sexual precocity in 4 generations: "familial testotoxicosis."
    • Egli CA, Rosenthal SM, Grumbach MM, Montalvo JM. 1983 Gonadotropin-independent sex-limited autosomal dominant sexual precocity in 4 generations: "familial testotoxicosis." Pediatr Res. 17(part 2):16A.
    • (1983) Pediatr Res. , vol.17 , pp. 16A
    • Egli, C.A.1    Rosenthal, S.M.2    Grumbach, M.M.3    Montalvo, J.M.4
  • 3
    • 0343324935 scopus 로고
    • Current treatment of familial male precocious puberty
    • Grave GD, Cutler Jr GB, eds., New York: Raven
    • Laue L, Cutler GB. 1993 Current treatment of familial male precocious puberty. In: Grave GD, Cutler Jr GB, eds. Sexual precocity: etiology, diagnosis and management. New York: Raven; 193-205.
    • (1993) Sexual Precocity: Etiology, Diagnosis and Management , pp. 193-205
    • Laue, L.1    Cutler, G.B.2
  • 4
    • 0027372340 scopus 로고
    • A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
    • Shenker A, Laue L, Kosugi S, Merend ino Jr JJ, Minegishi T, Cutler GB. 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature. 365: 652-654.
    • (1993) Nature , vol.365 , pp. 652-654
    • Shenker, A.1    Laue, L.2    Kosugi, S.3    Merend Ino, J.J.4    Minegishi, T.5    Cutler, G.B.6
  • 5
    • 0027497051 scopus 로고
    • Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
    • Kremer H, Mariman E, Otten BJ, et al. 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet. 2: 1779-1783.
    • (1993) Hum Mol Genet , vol.2 , pp. 1779-1783
    • Kremer, H.1    Mariman, E.2    Otten, B.J.3
  • 6
    • 0028586045 scopus 로고
    • A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases
    • Yano K, Hidaka A, Saji M et al. 1994 A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab. 79:1818-1823.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1818-1823
    • Yano, K.1    Hidaka, A.2    Saji, M.3
  • 7
    • 0025064309 scopus 로고
    • A nonsense mutation causing decreased levels of insulin receptor mRNA: Detection by a simplified technique for direct sequencing of genomic DNA amplified by polymerase chain reaction
    • Kadowaki T, Kadowaki H, Taylor SI. 1990 A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by polymerase chain reaction. Proc Natl Acad Sci USA. 87:658-663.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 658-663
    • Kadowaki, T.1    Kadowaki, H.2    Taylor, S.I.3
  • 10
    • 0027250914 scopus 로고
    • Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signal generation
    • Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn LD. 1993 Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signal generation. Mol Endocrinol. 7:1009-1020.
    • (1993) Mol Endocrinol , vol.7 , pp. 1009-1020
    • Kosugi, S.1    Okajima, F.2    Ban, T.3    Hidaka, A.4    Shenker, A.5    Kohn, L.D.6
  • 11
    • 0026002412 scopus 로고
    • Site-directed mutagenesis of a portion of extracellular domain of the rat thyrotropin receptor important in autoimmune thyroid disease and nonhomologous with gonadotropin receptors
    • Kosugi S, Ban T, Akamizu T, Kohn LD. 1991 Site-directed mutagenesis of a portion of extracellular domain of the rat thyrotropin receptor important in autoimmune thyroid disease and nonhomologous with gonadotropin receptors. J Biol Chem. 266:19413-19418.
    • (1991) J Biol Chem , vol.266 , pp. 19413-19418
    • Kosugi, S.1    Ban, T.2    Akamizu, T.3    Kohn, L.D.4
  • 12
    • 0019061918 scopus 로고
    • LIGAND: A versatile computerized approach for characterization of ligand-binding system
    • Munson PJ, Rodbard D. 1980 LIGAND: a versatile computerized approach for characterization of ligand-binding system. Anal Biochem. 107:220-239.
    • (1980) Anal Biochem , vol.107 , pp. 220-239
    • Munson, P.J.1    Rodbard, D.2
  • 13
    • 0026464910 scopus 로고
    • Mutation of alanine 623 in the third cytoplasmic loop of the rat thyrotropin (TSH) receptor results in a loss in the phosphoinositide but not cAMP signal induced by TSH and receptor autoantibodies
    • Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn L. 1992 Mutation of alanine 623 in the third cytoplasmic loop of the rat thyrotropin (TSH) receptor results in a loss in the phosphoinositide but not cAMP signal induced by TSH and receptor autoantibodies. J Biol Chem. 267:24153-24156.
    • (1992) J Biol Chem , vol.267 , pp. 24153-24156
    • Kosugi, S.1    Okajima, F.2    Ban, T.3    Hidaka, A.4    Shenker, A.5    Kohn, L.6
  • 14
    • 0026318020 scopus 로고
    • G-protein-coupled receptor genes as protooncogenes: Constitutively activating mutation of the α1β-adrenergic receptor enhances mitogenesis and tumorigenicity
    • Allen LF, Lefkowitz RJ, Caron MG, Cotecchia S. 1991 G-protein-coupled receptor genes as protooncogenes: constitutively activating mutation of the α1β-adrenergic receptor enhances mitogenesis and tumorigenicity. Proc Natl Acad Sci USA. 88:11354-11358.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 11354-11358
    • Allen, L.F.1    Lefkowitz, R.J.2    Caron, M.G.3    Cotecchia, S.4
  • 16
    • 0027369421 scopus 로고
    • Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
    • Parma J, Duprez L, Van Sande J, et al. 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature. 365:649-651.
    • (1993) Nature , vol.365 , pp. 649-651
    • Parma, J.1    Duprez, L.2    Van Sande, J.3
  • 17
    • 0026042543 scopus 로고
    • Expression of human luteinizing hormone (LH) receptor: Interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species
    • Jia X-C, Oikawa M, Bot M, et al. 1991 Expression of human luteinizing hormone (LH) receptor: interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species. Mol Endocrinol. 5:759-768.
    • (1991) Mol Endocrinol , vol.5 , pp. 759-768
    • Jia, X.-C.1    Oikawa, M.2    Bot, M.3
  • 18
    • 0028835899 scopus 로고
    • Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
    • Kremer H, Kraaji R, Toledo SPA, et al. 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet. 9:160-164.
    • (1995) Nat Genet , vol.9 , pp. 160-164
    • Kremer, H.1    Kraaji, R.2    Toledo, S.3
  • 19
    • 0026744306 scopus 로고
    • Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
    • Rosental W, Seibold A, Antaramian A, et al. 1992 Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature. 359:233-235.
    • (1992) Nature , vol.359 , pp. 233-235
    • Rosental, W.1    Seibold, A.2    Antaramian, A.3
  • 20
    • 0027207336 scopus 로고
    • Brief report: A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus
    • Merendino Jr JJ, Spiegel AM, Crawford JD, O'Carroll AM, Browstein MJ, Lolait SJ. 1993 Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. N Engl J Med. 238:1538-1541.
    • (1993) N Engl J Med , vol.238 , pp. 1538-1541
    • Merendino, J.J.1    Spiegel, A.M.2    Crawford, J.D.3    O'carroll, A.M.4    Browstein, M.J.5    Lolait, S.J.6
  • 21
    • 0027423948 scopus 로고
    • Hereditary isolated glucocorticoid deficiency is associated with abnormalities of adrenocorticotropin receptor gene
    • Tsigos C, Arai K, Wellington H, Chrousos GP. 1993 Hereditary isolated glucocorticoid deficiency is associated with abnormalities of adrenocorticotropin receptor gene. J Clin Invest. 92: 2458-2461.
    • (1993) J Clin Invest , vol.92 , pp. 2458-2461
    • Tsigos, C.1    Arai, K.2    Wellington, H.3    Chrousos, G.P.4
  • 22
    • 0028127807 scopus 로고
    • Identification of a point mutation in the thyrotropin receptor of hyt/hi/t hypothyroid mouse
    • Stein SA, Oates EL, Hall CR, et al. 1994 Identification of a point mutation in the thyrotropin receptor of hyt/hi/t hypothyroid mouse. Mol Endocrinol. 8:129-138.
    • (1994) Mol Endocrinol , vol.8 , pp. 129-138
    • Stein, S.A.1    Oates, E.L.2    Hall, C.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.