메뉴 건너뛰기




Volumn 57, Issue 5, 2005, Pages 62R-69R

Molecular Basis of Adrenal Insufficiency

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450;

EID: 17844364660     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/01.PDR.0000159568.31749.4D     Document Type: Review
Times cited : (37)

References (74)
  • 1
    • 0028303959 scopus 로고
    • A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.
    • Luo X, Ikeda Y, Parker KL 1994 A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77:481-490
    • (1994) Cell , vol.77 , pp. 481-490
    • Luo, X.1    Ikeda, Y.2    Parker, K.L.3
  • 5
    • 0041508536 scopus 로고    scopus 로고
    • Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad.
    • Jeays-Ward K, Hoyle C, Brennan J, Dandonneau M, Alldus G, Capel B, Swain A 2003 Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad. Development 130:3663-3670
    • (2003) Development , vol.130 , pp. 3663-3670
    • Jeays-Ward, K.1    Hoyle, C.2    Brennan, J.3    Dandonneau, M.4    Alldus, G.5    Capel, B.6    Swain, A.7
  • 6
    • 0344826575 scopus 로고    scopus 로고
    • Pbx1 is essential for adrenal development and urogenital differentiation.
    • Schnabel CA, Selleri L, Cleary ML 2003 Pbx1 is essential for adrenal development and urogenital differentiation. Genesis 37:123-30
    • (2003) Genesis , vol.37 , pp. 123-30
    • Schnabel, C.A.1    Selleri, L.2    Cleary, M.L.3
  • 7
    • 0036637499 scopus 로고    scopus 로고
    • Recent insights into organogenesis of the adrenal cortex.
    • Keegan CE, Hammer GD 2002 Recent insights into organogenesis of the adrenal cortex. Trends Endocrinol Metab 13:200-208
    • (2002) Trends Endocrinol Metab , vol.13 , pp. 200-208
    • Keegan, C.E.1    Hammer, G.D.2
  • 8
    • 17844372910 scopus 로고    scopus 로고
    • Development and function of the primate fetal adrenal cortex.
    • Messiano S, Jaffe RB 1996 Development and function of the primate fetal adrenal cortex. Endocrine Rev 1:663-671
    • (1996) Endocrine Rev , vol.1 , pp. 663-671
    • Messiano, S.1    Jaffe, R.B.2
  • 9
    • 0038811746 scopus 로고    scopus 로고
    • Adrenocortical zonation and ACTH.
    • Vinson GP 2003 Adrenocortical zonation and ACTH. Microsc Res Tech 61:227-239
    • (2003) Microsc Res Tech , vol.61 , pp. 227-239
    • Vinson, G.P.1
  • 11
    • 0024064517 scopus 로고    scopus 로고
    • Molecular biology of steroid hormone synthesis.
    • Miller WL 1998 Molecular biology of steroid hormone synthesis. Endocrinol Rev 9:285-318
    • (1998) Endocrinol Rev , vol.9 , pp. 285-318
    • Miller, W.L.1
  • 12
    • 0344084434 scopus 로고    scopus 로고
    • Inborn errors of adrenal steroidogenesis.
    • New MI 2003 Inborn errors of adrenal steroidogenesis. Mol Cel Endocrinol 211:75-83
    • (2003) Mol Cel Endocrinol , vol.211 , pp. 75-83
    • New, M.I.1
  • 16
    • 0032990419 scopus 로고    scopus 로고
    • A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
    • Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL 1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126
    • (1999) Nat Genet , vol.22 , pp. 125-126
    • Achermann, J.C.1    Ito, M.2    Ito, M.3    Hindmarsh, P.C.4    Jameson, J.L.5
  • 17
    • 0042466547 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia.
    • Speiser PW, White PC 2003 Congenital adrenal hyperplasia. N Engl J Med 349:776-788
    • (2003) N Engl J Med , vol.349 , pp. 776-788
    • Speiser, P.W.1    White, P.C.2
  • 19
    • 0034892068 scopus 로고    scopus 로고
    • Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency.
    • Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL 2001 Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 86:3820-3825
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3820-3825
    • Tajima, T.1    Fujieda, K.2    Kouda, N.3    Nakae, J.4    Miller, W.L.5
  • 20
    • 0029855881 scopus 로고    scopus 로고
    • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.
    • Bose HS, Sugawara T, Strauss JF III, Miller WL; International Congenital Lipoid Adrenal Hyperplasia Consortium 1996 The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335:1870-1878
    • (1996) N Engl J Med , vol.335 , pp. 1870-1878
    • Bose, H.S.1    Sugawara, T.2    Strauss, J.F.3    Miller, W.L.4
  • 22
    • 0036348468 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.
    • Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T 2000 Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. J Clin Endocrinol Metab 87:3808-3813
    • (2000) J Clin Endocrinol Metab , vol.87 , pp. 3808-3813
    • Katsumata, N.1    Ohtake, M.2    Hojo, T.3    Ogawa, E.4    Hara, T.5    Sato, N.6    Tanaka, T.7
  • 23
    • 0030901671 scopus 로고    scopus 로고
    • Spontaneous puberty in 46, XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.
    • Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF 3rd 1997 Spontaneous puberty in 46, XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. J Clin Invest 99:1265-1271
    • (1997) J Clin Invest , vol.99 , pp. 1265-1271
    • Fujieda, K.1    Tajima, T.2    Nakae, J.3    Sageshima, S.4    Tachibana, K.5    Suwa, S.6    Sugawara, T.7    Strauss, J.F.8
  • 24
    • 0030848810 scopus 로고    scopus 로고
    • Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia.
    • Caron KM, Soo SC, Wetsel WC, Stocco DM, Clark BJ, Parker KL 1997 Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. Proc Natl Acad Sci U S A 94:11540-11545
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 11540-11545
    • Caron, K.M.1    Soo, S.C.2    Wetsel, W.C.3    Stocco, D.M.4    Clark, B.J.5    Parker, K.L.6
  • 27
    • 0034053529 scopus 로고    scopus 로고
    • Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
    • Roth C, Hinney B, Peter M, Steinberger D, Lakomek M 2000 Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. Eur J Pediatr 159:189-192
    • (2000) Eur J Pediatr , vol.159 , pp. 189-192
    • Roth, C.1    Hinney, B.2    Peter, M.3    Steinberger, D.4    Lakomek, M.5
  • 28
    • 0031916848 scopus 로고    scopus 로고
    • Mouse P450RAI (CYP26) expression and retinoic acid-inducible retinoic acid metabolism in F9 cells are regulated by retinoic acid receptor gamma and retinoid X receptor alpha.
    • Abu-Abed SS, Beckett BR, Chiba H, Chithalen JV, Jones G, Metzger D, Chambon P, Petkovich M 1998 Mouse P450RAI (CYP26) expression and retinoic acid-inducible retinoic acid metabolism in F9 cells are regulated by retinoic acid receptor gamma and retinoid X receptor alpha. J Biol Chem 273:2409-2415
    • (1998) J Biol Chem , vol.273 , pp. 2409-2415
    • Abu-Abed, S.S.1    Beckett, B.R.2    Chiba, H.3    Chithalen, J.V.4    Jones, G.5    Metzger, D.6    Chambon, P.7    Petkovich, M.8
  • 29
    • 0032605231 scopus 로고    scopus 로고
    • Retinoids and mammalian development.
    • Morriss-Kay GM, Ward SJ 1999 Retinoids and mammalian development. Int Rev Cytol 188:73-131
    • (1999) Int Rev Cytol , vol.188 , pp. 73-131
    • Morriss-Kay, G.M.1    Ward, S.J.2
  • 31
    • 0037841590 scopus 로고    scopus 로고
    • Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1).
    • Kawajiri K, Ikuta T, Suzuki T, Kusaka M, Muramatsu M, Fujieda K, Tachibana M, Morohashi K 2003 Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1). Mol Endocrinol 17:994-1004
    • (2003) Mol Endocrinol , vol.17 , pp. 994-1004
    • Kawajiri, K.1    Ikuta, T.2    Suzuki, T.3    Kusaka, M.4    Muramatsu, M.5    Fujieda, K.6    Tachibana, M.7    Morohashi, K.8
  • 32
    • 0030986236 scopus 로고    scopus 로고
    • A signature motif in transcriptional co-activators mediates binding to nuclear receptors.
    • Heery DM, Kalkhoven E, Hoare S, Parker MG 1997 A signature motif in transcriptional co-activators mediates binding to nuclear receptors. Nature 387:733-736
    • (1997) Nature , vol.387 , pp. 733-736
    • Heery, D.M.1    Kalkhoven, E.2    Hoare, S.3    Parker, M.G.4
  • 36
    • 0035134357 scopus 로고    scopus 로고
    • Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation.
    • Hanley NA, Rainey WE, Wilson DI, Ball SG, Parker KL 2001 Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation. Mol Endocrinol 15:57-68
    • (2001) Mol Endocrinol , vol.15 , pp. 57-68
    • Hanley, N.A.1    Rainey, W.E.2    Wilson, D.I.3    Ball, S.G.4    Parker, K.L.5
  • 37
    • 0034083153 scopus 로고    scopus 로고
    • Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
    • Lalli E, Ohe K, Hindelang C, Sassone-Corsi P 2000 Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol Cell Biol 20:4910-4921
    • (2000) Mol Cell Biol , vol.20 , pp. 4910-4921
    • Lalli, E.1    Ohe, K.2    Hindelang, C.3    Sassone-Corsi, P.4
  • 38
    • 0029809471 scopus 로고    scopus 로고
    • Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production.
    • Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr., Jameson JL 1996 Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 98:1055-1062
    • (1996) J Clin Invest , vol.98 , pp. 1055-1062
    • Habiby, R.L.1    Boepple, P.2    Nachtigall, L.3    Sluss, P.M.4    Crowley, W.F.5    Jameson, J.L.6
  • 39
    • 0033842064 scopus 로고    scopus 로고
    • Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita.
    • Takahashi I, Takahashi T, Shoji Y, Takada G 2000 Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita. Clin Endocrinol (Oxf) 53:127-129
    • (2000) Clin Endocrinol (Oxf) , vol.53 , pp. 127-129
    • Takahashi, I.1    Takahashi, T.2    Shoji, Y.3    Takada, G.4
  • 41
    • 0033305217 scopus 로고    scopus 로고
    • X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
    • Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF Jr 1999 X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 84:4501-4509
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4501-4509
    • Seminara, S.B.1    Achermann, J.C.2    Genel, M.3    Jameson, J.L.4    Crowley, W.F.5
  • 44
    • 0035020065 scopus 로고    scopus 로고
    • Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice.
    • Jeffs B, Ito M, Yu RN, Martinson FA, Wang ZJ, Doglio LT, Jameson JL 2001 Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice. Endocrinology 142:2481-2488
    • (2001) Endocrinology , vol.142 , pp. 2481-2488
    • Jeffs, B.1    Ito, M.2    Yu, R.N.3    Martinson, F.A.4    Wang, Z.J.5    Doglio, L.T.6    Jameson, J.L.7
  • 48
    • 0031726716 scopus 로고    scopus 로고
    • Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
    • Peter M, Viemann M, Partsch CJ, Sippell WG 1998 Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 83:2666-2674
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2666-2674
    • Peter, M.1    Viemann, M.2    Partsch, C.J.3    Sippell, W.G.4
  • 50
    • 0031020234 scopus 로고    scopus 로고
    • DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
    • Ito M, Yu R, Jameson JL 1997 DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17:1476-1483
    • (1997) Mol Cell Biol , vol.17 , pp. 1476-1483
    • Ito, M.1    Yu, R.2    Jameson, J.L.3
  • 53
    • 0037062488 scopus 로고    scopus 로고
    • X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
    • Lehmann SG, Lalli E, Sassone-Corsi P 2002 X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Proc Natl Acad Sci U S A 99:8225-8230
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 8225-8230
    • Lehmann, S.G.1    Lalli, E.2    Sassone-Corsi, P.3
  • 54
    • 0038364014 scopus 로고    scopus 로고
    • Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.
    • Lehmann SG, Wurtz JM, Renaud JP, Sassone-Corsi P, Lalli E 2003 Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients. Hum Mol Genet 12:1063-1072
    • (2003) Hum Mol Genet , vol.12 , pp. 1063-1072
    • Lehmann, S.G.1    Wurtz, J.M.2    Renaud, J.P.3    Sassone-Corsi, P.4    Lalli, E.5
  • 56
    • 0033304828 scopus 로고    scopus 로고
    • IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
    • Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER 1999 IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 84:4335-4340
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4335-4340
    • Vilain, E.1    Le Merrer, M.2    Lecointre, C.3    Desangles, F.4    Kay, M.A.5    Maroteaux, P.6    McCabe, E.R.7
  • 57
    • 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 1998 Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Gene 19:155-157
    • (1998) Nat Gene , vol.19 , pp. 155-157
    • Krude, H.1    Biebermann, H.2    Luck, W.3    Horn, R.4    Brabant, G.5    Gruters, A.6
  • 59
    • 0036668183 scopus 로고    scopus 로고
    • Molecular basis of combined pituitary hormone deficiencies.
    • Cohen LE, Radvick S 2002 Molecular basis of combined pituitary hormone deficiencies. Endocr Rev 23:431-442
    • (2002) Endocr Rev , vol.23 , pp. 431-442
    • Cohen, L.E.1    Radvick, S.2
  • 60
    • 0035937414 scopus 로고    scopus 로고
    • A pituitary cell-restricted T box factor, TPIT, activates POMC transcription in cooperation with Pitx homeoproteins.
    • Lamolet B, Pulichino AM, Lamonerie T, Gauthier Y, Brue T, Enjalbert A, Drouin J 2001 A pituitary cell-restricted T box factor, TPIT, activates POMC transcription in cooperation with Pitx homeoproteins. Cell 104:849-859
    • (2001) Cell , vol.104 , pp. 849-859
    • Lamolet, B.1    Pulichino, A.M.2    Lamonerie, T.3    Gauthier, Y.4    Brue, T.5    Enjalbert, A.6    Drouin, J.7
  • 62
    • 0032238826 scopus 로고    scopus 로고
    • Adrenocorticotropin insensitivity syndromes.
    • Clark AJ, Weber A 1998 Adrenocorticotropin insensitivity syndromes. Endocr Rev 19:828-843
    • (1998) Endocr Rev , vol.19 , pp. 828-843
    • Clark, A.J.1    Weber, A.2
  • 63
    • 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
  • 67
    • 0037947770 scopus 로고    scopus 로고
    • The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.
    • Cronshaw JM, Matunis MJ 2003 The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Sci U S A 100:5823-5827
    • (2003) Proc Natl Sci U S A , vol.100 , pp. 5823-5827
    • Cronshaw, J.M.1    Matunis, M.J.2
  • 68
    • 1542269618 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity.
    • Peterson P, Pitkanen J, Sillanpaa N, Krohn K 2004 Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity. Clin Exp Immunol 135:348-357
    • (2004) Clin Exp Immunol , vol.135 , pp. 348-357
    • Peterson, P.1    Pitkanen, J.2    Sillanpaa, N.3    Krohn, K.4
  • 69
    • 0038054450 scopus 로고    scopus 로고
    • Adrenal insufficiency.
    • Arlt CW, Allolio B 2003 Adrenal insufficiency. Lancet 361:1881-1893
    • (2003) Lancet , vol.361 , pp. 1881-1893
    • Arlt, C.W.1    Allolio, B.2
  • 70
    • 0346599403 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
    • The Finnish-German APECED Consortium 1997 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 73
    • 0037758010 scopus 로고    scopus 로고
    • The genetics of autoimmune endocrine disease.
    • Tait KF, Gough SC 2003 The genetics of autoimmune endocrine disease. Clin Endocrinol 59:1-11
    • (2003) Clin Endocrinol , vol.59 , pp. 1-11
    • Tait, K.F.1    Gough, S.C.2
  • 74
    • 0038298337 scopus 로고    scopus 로고
    • Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up.
    • Dittmar M, Kahaly GJ 2003 Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. J Clin Endocrinol Metab 88:2983-2992
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 2983-2992
    • Dittmar, M.1    Kahaly, G.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.