메뉴 건너뛰기




Volumn 87, Issue 9, 2002, Pages 4318-4323

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CORTICOTROPIN RECEPTOR; CYCLIC AMP; GENOMIC DNA;

EID: 0036739963     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-020501     Document Type: Article
Times cited : (52)

References (38)
  • 3
    • 0030996897 scopus 로고    scopus 로고
    • Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche
    • Weber A, Clark AJL, Perry LA, Honour JW, Savage MO 1997 Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. Clin Endocrinol (Oxf) 46:431-437
    • (1997) Clin Endocrinol (Oxf) , vol.46 , pp. 431-437
    • Weber, A.1    Clark, A.J.L.2    Perry, L.A.3    Honour, J.W.4    Savage, M.O.5
  • 4
    • 0033824902 scopus 로고    scopus 로고
    • Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH
    • Ishii T, Ogata T, Sasaki G, Sato S, Kinoshita E, Matsuo N 2000 Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. Clin Endocrinol (Oxf) 53:389-392
    • (2000) Clin Endocrinol (Oxf) , vol.53 , pp. 389-392
    • Ishii, T.1    Ogata, T.2    Sasaki, G.3    Sato, S.4    Kinoshita, E.5    Matsuo, N.6
  • 6
    • 0031950634 scopus 로고    scopus 로고
    • ACTH receptor mutation in a girl with familial glucocorticoid deficiency
    • Slavotinek AM, Hurst JA, Dunger D, Wilkie AO 1998 ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clin Genet 53:57-62
    • (1998) Clin Genet , vol.53 , pp. 57-62
    • Slavotinek, A.M.1    Hurst, J.A.2    Dunger, D.3    Wilkie, A.O.4
  • 7
    • 0031741684 scopus 로고    scopus 로고
    • Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2)
    • Naville D, Weber A, Genin E, Durand P, Clark AJL, Begeot M 1998 Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2). J Clin Endocrinol Metab 83:3592-3596
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3592-3596
    • Naville, D.1    Weber, A.2    Genin, E.3    Durand, P.4    Clark, A.J.L.5    Begeot, M.6
  • 8
    • 0017845477 scopus 로고
    • Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
    • Allgrove J, Clayden GS, Grant BD, Macaulay JC 1978 Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1:1284-1286
    • (1978) Lancet , vol.1 , pp. 1284-1286
    • Allgrove, J.1    Clayden, G.S.2    Grant, B.D.3    Macaulay, J.C.4
  • 10
    • 0026800892 scopus 로고
    • The cloning of a family of genes that encode the melanocortin receptors
    • Mountjoy KG, Robbins LS, Mortrud MT, Cone RD 1992 The cloning of a family of genes that encode the melanocortin receptors. Science 257:1248-1251
    • (1992) Science , vol.257 , pp. 1248-1251
    • Mountjoy, K.G.1    Robbins, L.S.2    Mortrud, M.T.3    Cone, R.D.4
  • 12
    • 0027396787 scopus 로고
    • Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
    • Clark AJL, McLoughlin L, Grossman A 1993 familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 341:461-462
    • (1993) Lancet , vol.341 , pp. 461-462
    • Clark, A.J.L.1    McLoughlin, L.2    Grossman, A.3
  • 13
    • 0027423948 scopus 로고
    • Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
    • Tsigos C, Arai K, Hung W, Chrousos GP 1993 Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 92:2458-2461
    • (1993) J Clin Invest , vol.92 , pp. 2458-2461
    • Tsigos, C.1    Arai, K.2    Hung, W.3    Chrousos, G.P.4
  • 15
    • 0029029505 scopus 로고
    • A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency but no ACTH-R abnormalities in two families with the triple A syndrome
    • Tsigos C, Arai K, Latronico C, DiGeorge AM, Rapaport R, Chrousos GP 1995 A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab 80:2186-2189
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2186-2189
    • Tsigos, C.1    Arai, K.2    Latronico, C.3    DiGeorge, A.M.4    Rapaport, R.5    Chrousos, G.P.6
  • 16
    • 0029870664 scopus 로고    scopus 로고
    • Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucorticoid deficiency
    • Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez JM, Bergeot M 1996 Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucorticoid deficiency. J Clin Endocrinol Metab 81:1442-1448
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1442-1448
    • Naville, D.1    Barjhoux, L.2    Jaillard, C.3    Faury, D.4    Despert, F.5    Esteva, B.6    Durand, P.7    Saez, J.M.8    Bergeot, M.9
  • 18
    • 0027500950 scopus 로고
    • Functional characterization of the cloned human ACTH receptor: Impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency
    • Weber A, Kapas S, Hinson J, Grant DB, Grossman A, Clark AJL 1993 Functional characterization of the cloned human ACTH receptor: Impaired responsiveness of a mutant receptor In familial glucocorticoid deficiency. Biochem Biophys Res Commun 197:172-178
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 172-178
    • Weber, A.1    Kapas, S.2    Hinson, J.3    Grant, D.B.4    Grossman, A.5    Clark, A.J.L.6
  • 19
    • 0033306879 scopus 로고    scopus 로고
    • Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: Poor correlation of phenotype and genotype
    • Elias LLK, Huebner A, Pullinger GD, Mirtella A, Clark AJL 1999 Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: Poor correlation of phenotype and genotype. J Clin Endocrinol Metab 84:2766-2770
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2766-2770
    • Elias, L.L.K.1    Huebner, A.2    Pullinger, G.D.3    Mirtella, A.4    Clark, A.J.L.5
  • 21
    • 0033621465 scopus 로고    scopus 로고
    • Transcriptional regulatory elements of the human gene for cytochrome P45c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene
    • Wijesuriya SD, Zhang G, Dardis A, Miller WL 1999 Transcriptional regulatory elements of the human gene for cytochrome P45c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene. J Biol Chem 274:38097-38106
    • (1999) J Biol Chem , vol.274 , pp. 38097-38106
    • Wijesuriya, S.D.1    Zhang, G.2    Dardis, A.3    Miller, W.L.4
  • 22
    • 0028919531 scopus 로고
    • Adrenocorticotropin-resistant mutants of the Y1 adrenal cell line fail to express the adrenocorticotropin receptor
    • Schimmer BP, Kwan WK, Tsao J, Qiu R 1995 Adrenocorticotropin-resistant mutants of the Y1 adrenal cell line fail to express the adrenocorticotropin receptor. J Cell Physiol 163:164-171
    • (1995) J Cell Physiol , vol.163 , pp. 164-171
    • Schimmer, B.P.1    Kwan, W.K.2    Tsao, J.3    Qiu, R.4
  • 23
    • 0033927916 scopus 로고    scopus 로고
    • Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
    • Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P 2000 Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 106:253-262
    • (2000) J Clin Invest , vol.106 , pp. 253-262
    • Vaisse, C.1    Clement, K.2    Durand, E.3    Hercberg, S.4    Guy-Grand, B.5    Froguel, P.6
  • 24
    • 0015523027 scopus 로고
    • Adenylate cyclase activity in adrenocorticotropic hormone-sensitive and mutant adrenocortical tumor cell lines
    • Schimmer BP 1972 Adenylate cyclase activity in adrenocorticotropic hormone-sensitive and mutant adrenocortical tumor cell lines. J Biol Chem 247:3134-3138
    • (1972) J Biol Chem , vol.247 , pp. 3134-3138
    • Schimmer, B.P.1
  • 25
    • 0032238826 scopus 로고    scopus 로고
    • Adrenocorticotropin insensitivity syndromes
    • Clark AJL, Weber A 1998 Adrenocorticotropin insensitivity syndromes. Endocr Rev 19:828-843
    • (1998) Endocr Rev , vol.19 , pp. 828-843
    • Clark, A.J.L.1    Weber, A.2
  • 28
    • 0035081809 scopus 로고    scopus 로고
    • Melanocortin receptors: Their functions and regulation by physiological agonists and antagonists
    • Abdel-Malek ZA 2001 Melanocortin receptors: Their functions and regulation by physiological agonists and antagonists. Cell Mol Life Sci 58:434-441
    • (2001) Cell Mol Life Sci , vol.58 , pp. 434-441
    • Abdel-Malek, Z.A.1
  • 29
    • 0019268826 scopus 로고
    • Structure and biosynthesis of pro-adrenocorticotropin/endorphin and related peptides
    • Eipper BA, Mains RE 1980 Structure and biosynthesis of pro-adrenocorticotropin/endorphin and related peptides. Endocr Rev 1:1-27
    • (1980) Endocr Rev , vol.1 , pp. 1-27
    • Eipper, B.A.1    Mains, R.E.2
  • 31
    • 0030047248 scopus 로고    scopus 로고
    • Regulation of the acute production of steroids in steroidogenic cells
    • Stocco DM, Clark BJ 1996 Regulation of the acute production of steroids in steroidogenic cells. Endocr Rev 17:221-244
    • (1996) Endocr Rev , vol.17 , pp. 221-244
    • Stocco, D.M.1    Clark, B.J.2
  • 32
    • 0023178219 scopus 로고
    • Hormonal regulation of mRNA for P450scc (cholesterol side-chain cleavage enzyme) and P450c17 (17α-hydroxylase/17,20 lyase) in cultured human fetal adrenal cells
    • Di Blasio AM, Voutilainen R, Jaffe RB, Miller WL 1987 Hormonal regulation of mRNA for P450scc (cholesterol side-chain cleavage enzyme) and P450c17 (17α-hydroxylase/17,20 lyase) in cultured human fetal adrenal cells. J Clin Endocrinol Metab 65:170-175
    • (1987) J Clin Endocrinol Metab , vol.65 , pp. 170-175
    • Di Blasio, A.M.1    Voutilainen, R.2    Jaffe, R.B.3    Miller, W.L.4
  • 33
    • 0030955522 scopus 로고    scopus 로고
    • Stable expression of normal and mutant human ACTH receptor. Study of ACTH binding and coupling to adenylate cyclase
    • Naville D, Barjhoux L, Jaillard C, Saez JM, Durand P, Begeot M 1997 Stable expression of normal and mutant human ACTH receptor. Study of ACTH binding and coupling to adenylate cyclase. Mol Cell Endocrinol 129:83-90
    • (1997) Mol Cell Endocrinol , vol.129 , pp. 83-90
    • Naville, D.1    Barjhoux, L.2    Jaillard, C.3    Saez, J.M.4    Durand, P.5    Begeot, M.6
  • 34
    • 0028349072 scopus 로고
    • Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
    • Weber A, Clark AJ 1994 Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet 3:585-588
    • (1994) Hum Mol Genet , vol.3 , pp. 585-588
    • Weber, A.1    Clark, A.J.2
  • 35
    • 4243666312 scopus 로고    scopus 로고
    • ACTH resistance
    • Margioris AN, Chrousos GP, eds. Totowa, NJ: Humana Press
    • Tsigos C2001 ACTH resistance. In: Margioris AN, Chrousos GP, eds. Contemporary endocrinology: adrenal disorders. Totowa, NJ: Humana Press; 155-163
    • (2001) Contemporary endocrinology: adrenal disorders , pp. 155-163
    • Tsigos, C.1
  • 38
    • 0031688456 scopus 로고    scopus 로고
    • Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: Identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency
    • Wu SM, Stratakis CA, Chan CHY, Hallermeier KM, Bourdony CJ, Rennert OM, Chan WY 1998 Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. Mol Genet Metab 64:256-265
    • (1998) Mol Genet Metab , vol.64 , pp. 256-265
    • Wu, S.M.1    Stratakis, C.A.2    Chan, C.H.Y.3    Hallermeier, K.M.4    Bourdony, C.J.5    Rennert, O.M.6    Chan, W.Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.