메뉴 건너뛰기




Volumn 69, Issue 2, 2008, Pages 75-82

Familial glucocorticoid deficiency: Advances in the molecular understanding of ACTH action

Author keywords

ACTH resistance; Familial glucocorticoid deficiency; MC2R ACTHR; MRAP

Indexed keywords

CORTICOTROPIN RECEPTOR; HORMONE RECEPTOR; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR; MELANOCORTIN 2 RECEPTOR ACCESORY PROTEIN; UNCLASSIFIED DRUG;

EID: 38349045440     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000111810     Document Type: Short Survey
Times cited : (56)

References (62)
  • 1
    • 11244262589 scopus 로고    scopus 로고
    • The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
    • Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K: The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 2004;30:891-899.
    • (2004) Endocr Res , vol.30 , pp. 891-899
    • Huebner, A.1    Kaindl, A.M.2    Knobeloch, K.P.3    Petzold, H.4    Mann, P.5    Koehler, K.6
  • 2
    • 0000074410 scopus 로고
    • Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism
    • Shepard TH, Landing BH, Mason DG: Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. AMA J Dis Child 1959;97:154-162.
    • (1959) AMA J Dis Child , vol.97 , pp. 154-162
    • Shepard, T.H.1    Landing, B.H.2    Mason, D.G.3
  • 5
    • 0017761019 scopus 로고
    • Absent aldosterone response to ACTH in familial glucocorticoid deficiency
    • Spark RF, Etzkorn JR: Absent aldosterone response to ACTH in familial glucocorticoid deficiency. N Engl J Med 1977;297:917-920.
    • (1977) N Engl J Med , vol.297 , pp. 917-920
    • Spark, R.F.1    Etzkorn, J.R.2
  • 6
    • 0027396787 scopus 로고
    • Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
    • Clark AJ, McLoughlin L, Grossman A: Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 1993;341:461-462.
    • (1993) Lancet , vol.341 , pp. 461-462
    • Clark, A.J.1    McLoughlin, L.2    Grossman, A.3
  • 7
    • 0026800892 scopus 로고
    • The cloning of a family of genes that encode the melanocortin receptors
    • Mountjoy KG, Robbins LS, Mortrud MT, Cone RD: The cloning of a family of genes that encode the melanocortin receptors. Science 1992;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
  • 8
    • 0032238826 scopus 로고    scopus 로고
    • Adrenocorticotropin insensitivity syndromes
    • Clark AJ, Weber A: Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998;19:828-843.
    • (1998) Endocr Rev , vol.19 , pp. 828-843
    • Clark, A.J.1    Weber, A.2
  • 9
    • 33846219478 scopus 로고    scopus 로고
    • Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
    • Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al Ali M, Brain CE, et al: Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol 2007;66:205-210.
    • (2007) Clin Endocrinol , vol.66 , pp. 205-210
    • Lin, L.1    Hindmarsh, P.C.2    Metherell, L.A.3    Alzyoud, M.4    Al Ali, M.5    Brain, C.E.6
  • 10
    • 0027715885 scopus 로고
    • Neonatal hepatitis and congenital insensitivity to adrenocorticotropin (ACTH)
    • Lacy DE, Nathavitharana KA, Tarlow MJ: Neonatal hepatitis and congenital insensitivity to adrenocorticotropin (ACTH). J Pediatr Gastroenterol Nutr 1993;17:438-440.
    • (1993) J Pediatr Gastroenterol Nutr , vol.17 , pp. 438-440
    • Lacy, D.E.1    Nathavitharana, K.A.2    Tarlow, M.J.3
  • 13
    • 13944272719 scopus 로고    scopus 로고
    • Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency
    • Imamine H, Mizuno H, Sugiyama Y, Ohro Y, Sugiura T, Togari H: Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med 2005;205:123-131.
    • (2005) Tohoku J Exp Med , vol.205 , pp. 123-131
    • Imamine, H.1    Mizuno, H.2    Sugiyama, Y.3    Ohro, Y.4    Sugiura, T.5    Togari, H.6
  • 14
    • 20944434906 scopus 로고    scopus 로고
    • Multiple melanocortin receptors are expressed in bone cells
    • Zhong Q, Sridhar S, Ruan L, Ding KH, Xie D, Insogna K, et al: Multiple melanocortin receptors are expressed in bone cells. Bone 2005;36:820-831.
    • (2005) Bone , vol.36 , pp. 820-831
    • Zhong, Q.1    Sridhar, S.2    Ruan, L.3    Ding, K.H.4    Xie, D.5    Insogna, K.6
  • 15
    • 0344394248 scopus 로고    scopus 로고
    • Melanocortin-4 receptor messenger ribonucleic acid expression in rat cardiorespiratory, musculoskeletal, and integumentary systems
    • Mountjoy KG, Jenny Wu CS, Dumont LM, Wild JM: Melanocortin-4 receptor messenger ribonucleic acid expression in rat cardiorespiratory, musculoskeletal, and integumentary systems. Endocrinology 2003;144:5488-5496.
    • (2003) Endocrinology , vol.144 , pp. 5488-5496
    • Mountjoy, K.G.1    Jenny, W.C.2    Dumont, L.M.3    Wild, J.M.4
  • 16
    • 3142746830 scopus 로고    scopus 로고
    • A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review
    • Selva KA, Lafranchi SH, Boston B: A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review. J Pediatr Endocrinol Metab 2004;17:85-92.
    • (2004) J Pediatr Endocrinol Metab , vol.17 , pp. 85-92
    • Selva, K.A.1    Lafranchi, S.H.2    Boston, B.3
  • 17
    • 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 AJ, Perry LA, Honour JW, Savage MO: Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. Clin Endocrinol (Oxf) 1997;46:431-437.
    • (1997) Clin Endocrinol (Oxf) , vol.46 , pp. 431-437
    • Weber, A.1    Clark, A.J.2    Perry, L.A.3    Honour, J.W.4    Savage, M.O.5
  • 18
    • 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 EI, Matsuo N: Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. Clin Endocrinol (Oxf) 2000;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.I.5    Matsuo, N.6
  • 19
    • 0022622952 scopus 로고
    • Inhibitory effect of adrenocorticotropin on corticotropin-releasing factor release from rat hypothalamus in vitro
    • Suda T, Yajima F, Tomori N, Sumitomo T, Nakagami Y, Ushiyama T, et al: Inhibitory effect of adrenocorticotropin on corticotropin-releasing factor release from rat hypothalamus in vitro. Endocrinology 1986;118:459-461.
    • (1986) Endocrinology , vol.118 , pp. 459-461
    • Suda, T.1    Yajima, F.2    Tomori, N.3    Sumitomo, T.4    Nakagami, Y.5    Ushiyama, T.6
  • 22
    • 9144247817 scopus 로고    scopus 로고
    • Identification of adrenocorticotropin receptor messenger ribonucleic acid in the human pituitary and its loss of expression in pituitary adenomas
    • Morris DG, Kola B, Borboli N, Kaltsas GA, Gueorguiev M, McNicol AM, et al: Identification of adrenocorticotropin receptor messenger ribonucleic acid in the human pituitary and its loss of expression in pituitary adenomas. J Clin Endocrinol Metab 2003;88:6080-6087.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 6080-6087
    • Morris, D.G.1    Kola, B.2    Borboli, N.3    Kaltsas, G.A.4    Gueorguiev, M.5    McNicol, A.M.6
  • 24
    • 0021276290 scopus 로고
    • Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH
    • Davidai G, Kahana L, Hochberg Z: Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH. Clin Endocrinol (Oxf) 1984;20:515-520.
    • (1984) Clin Endocrinol (Oxf) , vol.20 , pp. 515-520
    • Davidai, G.1    Kahana, L.2    Hochberg, Z.3
  • 25
    • 0029908001 scopus 로고    scopus 로고
    • Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland
    • Xia Y, Wikberg JE: Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland. Cell Tissue Res 1996;286:63-68.
    • (1996) Cell Tissue Res , vol.286 , pp. 63-68
    • Xia, Y.1    Wikberg, J.E.2
  • 26
    • 0031914529 scopus 로고    scopus 로고
    • Localization and expression of adrenocorticotropic hormone receptor mRNA in normal and neoplastic human adrenal cortex
    • Reincke M, Beuschlein F, Menig G, Hofmockel G, Arlt W, Lehmann R, et al: Localization and expression of adrenocorticotropic hormone receptor mRNA in normal and neoplastic human adrenal cortex. J Endocrinol 1998;156:415-423.
    • (1998) J Endocrinol , vol.156 , pp. 415-423
    • Reincke, M.1    Beuschlein, F.2    Menig, G.3    Hofmockel, G.4    Arlt, W.5    Lehmann, R.6
  • 27
    • 0033678507 scopus 로고    scopus 로고
    • Stimulatory effect of adrenocorticotropin on cortisol, aldosterone, and dehydroepiandrosterone secretion in normal humans: Dose-response study
    • Arvat E, Di Vito L, Lanfranco F, Maccario M, Baffoni C, Rossetto R, et al: Stimulatory effect of adrenocorticotropin on cortisol, aldosterone, and dehydroepiandrosterone secretion in normal humans: dose-response study. J Clin Endocrinol Metab 2000;85:3141-3146.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3141-3146
    • Arvat, E.1    Di Vito, L.2    Lanfranco, F.3    Maccario, M.4    Baffoni, C.5    Rossetto, R.6
  • 28
    • 0023110657 scopus 로고
    • Endocrine manifestations of critical illness in the child
    • Weise K, Zaritsky A: Endocrine manifestations of critical illness in the child. Pediatr Clin North Am 1987;34:119-130.
    • (1987) Pediatr Clin North Am , vol.34 , pp. 119-130
    • Weise, K.1    Zaritsky, A.2
  • 29
    • 21244480582 scopus 로고    scopus 로고
    • Primary adrenal insufficiency in children: Twenty years experience at the Sainte-Justine Hospital, Montreal
    • Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C: Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab 2005;90:3243-3250.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 3243-3250
    • Perry, R.1    Kecha, O.2    Paquette, J.3    Huot, C.4    Van Vliet, G.5    Deal, C.6
  • 32
    • 27744591388 scopus 로고    scopus 로고
    • Why is the management of glucocorticoid deficiency still controversial: A review of the literature
    • Crown A, Lightman S: Why is the management of glucocorticoid deficiency still controversial: a review of the literature. Clin Endocrinol (Oxf) 2005;63:483-492.
    • (2005) Clin Endocrinol (Oxf) , vol.63 , pp. 483-492
    • Crown, A.1    Lightman, S.2
  • 33
    • 0026800892 scopus 로고
    • The cloning of a family of genes that encode the melanocortin receptors
    • Mountjoy KG, Robbins LS, Mortrud MT, Cone RD: The cloning of a family of genes that encode the melanocortin receptors. Science 1992;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
  • 34
    • 0027423948 scopus 로고
    • Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
    • Tsigos C, Arai K, Hung W, Chrousos GP: Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;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
  • 35
    • 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 AC, DiGeorge AM, Rapaport R, Chrousos GP: 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 1995;80:2186-2189.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2186-2189
    • Tsigos, C.1    Arai, K.2    Latronico, A.C.3    DiGeorge, A.M.4    Rapaport, R.5    Chrousos, G.P.6
  • 36
    • 0028815022 scopus 로고
    • Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families
    • Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, Ricker AT, et al: Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab 1995;80:65-71.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 65-71
    • Weber, A.1    Toppari, J.2    Harvey, R.D.3    Klann, R.C.4    Shaw, N.J.5    Ricker, A.T.6
  • 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 CH, Hallermeier KM, Bourdony CJ, Rennert OM, et al: Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. Mol Genet Metab 1998;64:256-265.
    • (1998) Mol Genet Metab , vol.64 , pp. 256-265
    • Wu, S.M.1    Stratakis, C.A.2    Chan, C.H.3    Hallermeier, K.M.4    Bourdony, C.J.5    Rennert, O.M.6
  • 39
    • 0031950634 scopus 로고    scopus 로고
    • ACTH receptor mutation in a girl with familial glucocorticoid deficiency
    • Slavotinek AM, Hurst JA, Dunger D, Wilkie AO: ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clin Genet 1998;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
  • 40
    • 0033524852 scopus 로고    scopus 로고
    • Three steroidogenic factor-1 binding elements are required for constitutive and cAMP-regulated expression of the human adrenocorticotropin receptor gene
    • Naville D, Penhoat A, Durand P, Begeot M: Three steroidogenic factor-1 binding elements are required for constitutive and cAMP-regulated expression of the human adrenocorticotropin receptor gene. Biochem Biophys Res Commun 1999;255:28-33.
    • (1999) Biochem Biophys Res Commun , vol.255 , pp. 28-33
    • Naville, D.1    Penhoat, A.2    Durand, P.3    Begeot, M.4
  • 41
    • 0033306879 scopus 로고    scopus 로고
    • Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: Poor correlation of phenotype and genotype
    • Elias LL, Huebner A, Pullinger GD, Mirtella A, Clark AJ: Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. J Clin Endocrinol Metab 1999;84:2766-2770.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2766-2770
    • Elias, L.L.1    Huebner, A.2    Pullinger, G.D.3    Mirtella, A.4    Clark, A.J.5
  • 42
    • 0029870664 scopus 로고    scopus 로고
    • Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
    • Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, et al: Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J Clin Endocrinol Metab 1996;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
  • 43
    • 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: Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase. Mol Cell Endocrinol 1997;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
  • 44
    • 0036739963 scopus 로고    scopus 로고
    • Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay
    • Fluck CE, Martens JW, Conte FA, Miller WL: Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. J Clin Endocrinol Metab 2002;87:4318-4323.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4318-4323
    • Fluck, C.E.1    Martens, J.W.2    Conte, F.A.3    Miller, W.L.4
  • 47
    • 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 AJ, Begeot M: 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 1998;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.5    Begeot, M.6
  • 48
    • 0028349072 scopus 로고
    • Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
    • Weber A, Clark AJ: Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet 1994;3:585-588.
    • (1994) Hum Mol Genet , vol.3 , pp. 585-588
    • Weber, A.1    Clark, A.J.2
  • 49
    • 0036820539 scopus 로고    scopus 로고
    • Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity
    • Genin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, et al: Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. Hum Genet 2002;111:428-434.
    • (2002) Hum Genet , vol.111 , pp. 428-434
    • Genin, E.1    Huebner, A.2    Jaillard, C.3    Faure, A.4    Halaby, G.5    Saka, N.6
  • 50
    • 0036313065 scopus 로고    scopus 로고
    • Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: Evidence in support of a requirement for a specific adrenal accessory factor
    • Noon LA, Franklin JM, King PJ, Goulding NJ, Hunyady L, Clark AJ: Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor. J Endocrinol 2002;174:17-25.
    • (2002) J Endocrinol , vol.174 , pp. 17-25
    • Noon, L.A.1    Franklin, J.M.2    King, P.J.3    Goulding, N.J.4    Hunyady, L.5    Clark, A.J.6
  • 52
    • 13944270307 scopus 로고    scopus 로고
    • Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
    • Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, et al: Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005;37:166-170.
    • (2005) Nat Genet , vol.37 , pp. 166-170
    • Metherell, L.A.1    Chapple, J.P.2    Cooray, S.3    David, A.4    Becker, C.5    Ruschendorf, F.6
  • 53
    • 0032574982 scopus 로고    scopus 로고
    • RAMPs regulate the transport and ligand specificity of the calcitonin-receptor- like receptor
    • McLatchie LM, Fraser NJ, Main MJ, Wise A, Brown J, Thompson N, et al: RAMPs regulate the transport and ligand specificity of the calcitonin-receptor- like receptor. Nature 1998;393:333-339.
    • (1998) Nature , vol.393 , pp. 333-339
    • McLatchie, L.M.1    Fraser, N.J.2    Main, M.J.3    Wise, A.4    Brown, J.5    Thompson, N.6
  • 54
    • 8844270180 scopus 로고    scopus 로고
    • RTP family members induce functional expression of mammalian odorant receptors
    • Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H: RTP family members induce functional expression of mammalian odorant receptors. Cell 2004;119:679-691.
    • (2004) Cell , vol.119 , pp. 679-691
    • Saito, H.1    Kubota, M.2    Roberts, R.W.3    Chi, Q.4    Matsunami, H.5
  • 55
    • 33745969837 scopus 로고    scopus 로고
    • Members of RTP and REEP gene families influence functional bitter taste receptor expression
    • Behrens M, Bartelt J, Reichling C, Winnig M, Kuhn C, Meyerhof W: Members of RTP and REEP gene families influence functional bitter taste receptor expression. J Biol Chem 2006;281:20650-20659.
    • (2006) J Biol Chem , vol.281 , pp. 20650-20659
    • Behrens, M.1    Bartelt, J.2    Reichling, C.3    Winnig, M.4    Kuhn, C.5    Meyerhof, W.6
  • 56
    • 34347210358 scopus 로고    scopus 로고
    • Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells
    • Roy S, Rached M, Gallo-Payet N: Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells. Mol Endocrinol 2007;21:1656-1669.
    • (2007) Mol Endocrinol , vol.21 , pp. 1656-1669
    • Roy, S.1    Rached, M.2    Gallo-Payet, N.3
  • 58
    • 10744224515 scopus 로고    scopus 로고
    • Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
    • Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, et al: Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 2004;36:228-230.
    • (2004) Nat Genet , vol.36 , pp. 228-230
    • Fluck, C.E.1    Tajima, T.2    Pandey, A.V.3    Arlt, W.4    Okuhara, K.5    Verge, C.F.6
  • 59
    • 0031838353 scopus 로고    scopus 로고
    • Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
    • Krude H, Biebermann H, Luck W, Horn R, Brabant G, Gruters A: Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998;19:155-157.
    • (1998) Nat Genet , vol.19 , pp. 155-157
    • Krude, H.1    Biebermann, H.2    Luck, W.3    Horn, R.4    Brabant, G.5    Gruters, A.6
  • 61
    • 33646404622 scopus 로고    scopus 로고
    • Melanocortin 4 receptor mutations in a large cohort of severely obese adults: Prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating
    • Lubrano-Berthelier C, Dubern B, Lacorte JM, Picard F, Shapiro A, Zhang S, et al: Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. J Clin Endocrinol Metab 2006;91:1811-1818.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1811-1818
    • Lubrano-Berthelier, C.1    Dubern, B.2    Lacorte, J.M.3    Picard, F.4    Shapiro, A.5    Zhang, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.