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Volumn 92, Issue 10, 2007, Pages 4000-4008

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in palestinians

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CORTICOSTEROID; OCTAMER TRANSCRIPTION FACTOR;

EID: 35348992127     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1306     Document Type: Article
Times cited : (28)

References (34)
  • 1
    • 0022396907 scopus 로고
    • Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years
    • Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL 1985 Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf) 23:481-493
    • (1985) Clin Endocrinol (Oxf) , vol.23 , pp. 481-493
    • Hauffa, B.P.1    Miller, W.L.2    Grumbach, M.M.3    Conte, F.A.4    Kaplan, S.L.5
  • 3
    • 0029855881 scopus 로고    scopus 로고
    • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
    • Bose HS, Sugawara T, Strauss III JF, Miller WL 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 III, J.F.3    Miller, W.L.4
  • 4
    • 14044251615 scopus 로고    scopus 로고
    • A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings
    • Chen X, Baker BY, Abduljabbar MA, Miller WL 2005 A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab 90:835-840
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 835-840
    • Chen, X.1    Baker, B.Y.2    Abduljabbar, M.A.3    Miller, W.L.4
  • 5
    • 0025941096 scopus 로고
    • The 30-kDa mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors
    • Stocco DM, Sodeman TC 1991 The 30-kDa mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors. J Biol Chem 266:19731-19738
    • (1991) J Biol Chem , vol.266 , pp. 19731-19738
    • Stocco, D.M.1    Sodeman, T.C.2
  • 6
    • 0028104418 scopus 로고
    • The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells: Characterization of the steroidogenic acute regulatory protein (StAR)
    • Clark BJ, Wells J, King SR, Stocco DM 1994 The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells: characterization of the steroidogenic acute regulatory protein (StAR). J Biol Chem 269:28314-28322
    • (1994) J Biol Chem , vol.269 , pp. 28314-28322
    • Clark, B.J.1    Wells, J.2    King, S.R.3    Stocco, D.M.4
  • 7
    • 0037007628 scopus 로고    scopus 로고
    • Rapid regulation of steroidogenesis by mitochondrial protein import
    • Bose H, Lingappa VR, Miller WL 2002 Rapid regulation of steroidogenesis by mitochondrial protein import. Nature 417:87-91
    • (2002) Nature , vol.417 , pp. 87-91
    • Bose, H.1    Lingappa, V.R.2    Miller, W.L.3
  • 8
    • 33847235315 scopus 로고    scopus 로고
    • StAR Search - what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import
    • Miller WL 2007 StAR Search - what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import. Mol Endocrinol 3:589-601
    • (2007) Mol Endocrinol , vol.3 , pp. 589-601
    • Miller, W.L.1
  • 10
    • 24344436769 scopus 로고    scopus 로고
    • A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia
    • Flück CE, Maret A, Mallet D, Portrat-Doyen S, Achermann JC, Leheup B, Theintz GE, Mullis PE, Morel Y 2005 A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 90:5304-5308
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5304-5308
    • Flück, C.E.1    Maret, A.2    Mallet, D.3    Portrat-Doyen, S.4    Achermann, J.C.5    Leheup, B.6    Theintz, G.E.7    Mullis, P.E.8    Morel, Y.9
  • 11
    • 0033756526 scopus 로고    scopus 로고
    • Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia
    • Bose HS, Sato S, Aisenberg J, Shalev SA, Matsuo N, Miller WL 2000 Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 85:3636-3639
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3636-3639
    • Bose, H.S.1    Sato, S.2    Aisenberg, J.3    Shalev, S.A.4    Matsuo, N.5    Miller, W.L.6
  • 13
    • 0030459652 scopus 로고    scopus 로고
    • Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: Implications for the mechanism of StAR action
    • Arakane F, Sugawara T, Nishino H, Liu Z, Holt JA, Pain D, Stocco DM, Miller WL, Strauss III JF 1996 Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: implications for the mechanism of StAR action. Proc Natl Acad Sci USA 93:13731-13736
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 13731-13736
    • Arakane, F.1    Sugawara, T.2    Nishino, H.3    Liu, Z.4    Holt, J.A.5    Pain, D.6    Stocco, D.M.7    Miller, W.L.8    Strauss III, J.F.9
  • 14
    • 33845504474 scopus 로고    scopus 로고
    • Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia
    • Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC 2006 Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 91:4781-4785
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4781-4785
    • Baker, B.Y.1    Lin, L.2    Kim, C.J.3    Raza, J.4    Smith, C.P.5    Miller, W.L.6    Achermann, J.C.7
  • 15
    • 0033343119 scopus 로고    scopus 로고
    • Gonadal histology with testicular carcinoma in situ in a 15-year-old 46, XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia
    • Korsch E, Peter M, Hiort O, Sippell WG, Ure BM, Hauffa BP, Bergmann M 1999 Gonadal histology with testicular carcinoma in situ in a 15-year-old 46, XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 84:1628-1632
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1628-1632
    • Korsch, E.1    Peter, M.2    Hiort, O.3    Sippell, W.G.4    Ure, B.M.5    Hauffa, B.P.6    Bergmann, M.7
  • 16
    • 0031740349 scopus 로고    scopus 로고
    • Steroidogenic acute regulatory protein (StAR) transcripts constitutively expressed in the adult rat central nervous system: Colocalization of StAR, cytochrome P-450SCC (CYP XIA1), and 3β-hydroxysteroid dehydrogenase in the rat brain
    • Furukawa A, Miyatake A, Ohnishi T, Ichikawa Y 1998 Steroidogenic acute regulatory protein (StAR) transcripts constitutively expressed in the adult rat central nervous system: colocalization of StAR, cytochrome P-450SCC (CYP XIA1), and 3β-hydroxysteroid dehydrogenase in the rat brain. J Neurochem 71:2231-2238
    • (1998) J Neurochem , vol.71 , pp. 2231-2238
    • Furukawa, A.1    Miyatake, A.2    Ohnishi, T.3    Ichikawa, Y.4
  • 19
    • 33645383548 scopus 로고    scopus 로고
    • Phenotypic variations in lipoid congenital adrenal hyperplasia
    • Bhangoo A, Anhalt H, Ten S, King S 2006 Phenotypic variations in lipoid congenital adrenal hyperplasia. Ped Endocrinol Rev 3:37-50
    • (2006) Ped Endocrinol Rev , vol.3 , pp. 37-50
    • Bhangoo, A.1    Anhalt, H.2    Ten, S.3    King, S.4
  • 20
    • 0025322295 scopus 로고
    • Gonadal neoplasia and abnormal sexual differentiation
    • Savage MO, Lowe DG 1990 Gonadal neoplasia and abnormal sexual differentiation. Clin Endocrinol (Oxf) 32:519-533
    • (1990) Clin Endocrinol (Oxf) , vol.32 , pp. 519-533
    • Savage, M.O.1    Lowe, D.G.2
  • 21
    • 0008441346 scopus 로고
    • Zur morphologie und genese der kongenitalen nebennierenrindenhyperplasie beim man̈nlichen scheinzwitter
    • Dhom G 1958 Zur morphologie und genese der kongenitalen nebennierenrindenhyperplasie beim man̈nlichen scheinzwitter. Z Allg Pathol Anat 97:346-357
    • (1958) Z Allg Pathol Anat , vol.97 , pp. 346-357
    • Dhom, G.1
  • 22
    • 0024146862 scopus 로고
    • The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia
    • Ogata T, Matsuo N, Saito M, Prader A 1989 The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. Helv Paediatr Acta 43:531-538
    • (1989) Helv Paediatr Acta , vol.43 , pp. 531-538
    • Ogata, T.1    Matsuo, N.2    Saito, M.3    Prader, A.4
  • 23
    • 0031050124 scopus 로고    scopus 로고
    • Testicular histopathology in congenital lipoid adrenal hyperplasia: A light and electron microscopic study
    • Aya M, Ogata T, Sakaguchi A, Sato S, Matsuo N 1997 Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study. Horm Res 47:121-125
    • (1997) Horm Res , vol.47 , pp. 121-125
    • Aya, M.1    Ogata, T.2    Sakaguchi, A.3    Sato, S.4    Matsuo, N.5
  • 24
    • 0021723937 scopus 로고
    • Placental alkaline phosphatase in testicular germ cell tumours and in carcinoma in situ of the testis. An immunohistochemical study
    • Jacobsen GK, Norgaard-Pedersen B 1984 Placental alkaline phosphatase in testicular germ cell tumours and in carcinoma in situ of the testis. An immunohistochemical study. Acta Pathol Microbiol Immunol Scand [A] 92:323-329
    • (1984) Acta Pathol Microbiol Immunol Scand , vol.92 , Issue.A , pp. 323-329
    • Jacobsen, G.K.1    Norgaard-Pedersen, B.2
  • 25
    • 0023260329 scopus 로고
    • Immunohistochemical demonstration of placental alkaline phosphatase in various states of testicular development and in germ cell tumors
    • Hustin J, Collette J, Franchimont P 1987 Immunohistochemical demonstration of placental alkaline phosphatase in various states of testicular development and in germ cell tumors. Int J Androl 10:29-35
    • (1987) Int J Androl , vol.10 , pp. 29-35
    • Hustin, J.1    Collette, J.2    Franchimont, P.3
  • 26
    • 0043245877 scopus 로고    scopus 로고
    • Neoplastic potential of germ cells in relation to disturbances of gonadal organogenesis and changes in karyotype
    • Slowikowska-Hilczer J, Romer TE, Kula K 2003 Neoplastic potential of germ cells in relation to disturbances of gonadal organogenesis and changes in karyotype. J Androl 24:270-278
    • (2003) J Androl , vol.24 , pp. 270-278
    • Slowikowska-Hilczer, J.1    Romer, T.E.2    Kula, K.3
  • 27
    • 3242687072 scopus 로고    scopus 로고
    • Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells
    • Honecker F, Stoop H, de Krijger RR, Chris Lau YF, Bokemeyer C, Looijenga LH 2004 Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells. J Pathol 203:849-857
    • (2004) J Pathol , vol.203 , pp. 849-857
    • Honecker, F.1    Stoop, H.2    de Krijger, R.R.3    Chris Lau, Y.F.4    Bokemeyer, C.5    Looijenga, L.H.6
  • 30
    • 0031938333 scopus 로고    scopus 로고
    • Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia
    • discussion 204-206
    • Rajpert-De Meyts E, Jorgensen N, Brondum-Nielsen K, Muller J, Skakkebaek NE 1998 Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia. APMIS 106:198 -204; discussion 204-206
    • (1998) APMIS , vol.106 , pp. 198-204
    • Rajpert-De Meyts, E.1    Jorgensen, N.2    Brondum-Nielsen, K.3    Muller, J.4    Skakkebaek, N.E.5
  • 31
    • 33645835375 scopus 로고    scopus 로고
    • Developmental model for the pathogenesis of testicular carcinoma in situ: Genetic and environmental aspects
    • Rajpert-De Meyts E 2006 Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects. Hum Reprod Update 12:303-323
    • (2006) Hum Reprod Update , vol.12 , pp. 303-323
    • Rajpert-De Meyts, E.1
  • 32
    • 33748439007 scopus 로고    scopus 로고
    • Lee PA, Houk CP, Ahmed SF, Hughes IA and in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology 2006 Consensus statement on management of intersex disorders. Pediatrics 118:e488-e500
    • Lee PA, Houk CP, Ahmed SF, Hughes IA and in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology 2006 Consensus statement on management of intersex disorders. Pediatrics 118:e488-e500
  • 34
    • 21344465850 scopus 로고    scopus 로고
    • Carcinoma in situ testis, the progenitor of testicular germ cell tumors: A clinical review
    • Hoei-Hansen CE, Rajpert-De Meyts E, Daugaard G, Skakkebaek NE 2005 Carcinoma in situ testis, the progenitor of testicular germ cell tumors: a clinical review. Ann Oncol 16:863-868
    • (2005) Ann Oncol , vol.16 , pp. 863-868
    • Hoei-Hansen, C.E.1    Rajpert-De Meyts, E.2    Daugaard, G.3    Skakkebaek, N.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.