-
1
-
-
0028104418
-
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
-
2
-
-
0028944669
-
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
-
Lin D, Sugawara T, Straus JF III, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL (1995) Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267: 1828-1831.
-
(1995)
Science
, vol.267
, pp. 1828-1831
-
-
Lin, D.1
Sugawara, T.2
Straus III, J.F.3
Clark, B.J.4
Stocco, D.M.5
Saenger, P.6
Rogol, A.7
Miller, W.L.8
-
3
-
-
0022396907
-
Congenital adrenal lipoid 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 lipoid 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
-
4
-
-
0028973522
-
T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
-
Tee MK, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckingham B, Strauss JF III, Miller WL (1995) T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum Mol Genet 4: 2299-2305.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2299-2305
-
-
Tee, M.K.1
Lin, D.2
Sugawara, T.3
Holt, J.A.4
Guiguen, Y.5
Buckingham, B.6
Strauss III, J.F.7
Miller, W.L.8
-
5
-
-
0029855881
-
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
-
Bose HS, Sugawara T, Straus 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
Straus, J.F.3
Miller, W.L.4
-
6
-
-
0030901671
-
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 III (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 III, J.F.8
-
7
-
-
8244237727
-
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
-
Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, Igarashi N, Igarashi Y, Ishii T, Koda N, Kondo T, Kohno H, Nakagawa Y, Tachibana K, Takeshima Y, Tsubouchi K, Strauss JF III, Fujieda K (1997) Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet 6: 571-576.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 571-576
-
-
Nakae, J.1
Tajima, T.2
Sugawara, T.3
Arakane, F.4
Hanaki, K.5
Hotsubo, T.6
Igarashi, N.7
Igarashi, Y.8
Ishii, T.9
Koda, N.10
Kondo, T.11
Kohno, H.12
Nakagawa, Y.13
Tachibana, K.14
Takeshima, Y.15
Tsubouchi, K.16
Strauss III, J.F.17
Fujieda, K.18
-
8
-
-
0030955987
-
Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to homozygous frameshift mutation in the steroidogenic acute regulatory protein
-
Bose HS, Pescovitz H, Miller WL (1997) Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to homozygous frameshift mutation in the steroidogenic acute regulatory protein. J Clin Endocrinol Metab 82: 1511-1515.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 1511-1515
-
-
Bose, H.S.1
Pescovitz, H.2
Miller, W.L.3
-
9
-
-
0030764513
-
Homozygous Q258X mutation in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia
-
Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I (1997) Homozygous Q258X mutation in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Endocr J 44: 441-446.
-
(1997)
Endocr J
, vol.44
, pp. 441-446
-
-
Katsumata, N.1
Tanae, A.2
Shinagawa, T.3
Nagashima-Miyokawa, A.4
Shimizu, M.5
Yasunaga, T.6
Tanaka, T.7
Hibi, I.8
-
10
-
-
0031402462
-
Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia
-
Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I (1997) Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Clin Pediatr Endocrinol 6: 33-37.
-
(1997)
Clin Pediatr Endocrinol
, vol.6
, pp. 33-37
-
-
Katsumata, N.1
Tanae, A.2
Shinagawa, T.3
Nagashima-Miyokawa, A.4
Shimizu, M.5
Yasunaga, T.6
Tanaka, T.7
Hibi, I.8
-
11
-
-
0030743449
-
A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
-
Okuyama E, Nishi N, Onishi S, Itoh S, Ishii Y, Miyanaka H, Fujita K, Ichikawa Y (1997) A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 82: 2337-2342.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 2337-2342
-
-
Okuyama, E.1
Nishi, N.2
Onishi, S.3
Itoh, S.4
Ishii, Y.5
Miyanaka, H.6
Fujita, K.7
Ichikawa, Y.8
-
12
-
-
0032238895
-
Novel framesfhit mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia
-
Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I (1998) Novel framesfhit mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Hum Mutation (Supple 1): S304-S307.
-
(1998)
Hum Mutation
, Issue.1 SUPPL.
-
-
Katsumata, N.1
Tanae, A.2
Shinagawa, T.3
Nagashima-Miyokawa, A.4
Shimizu, M.5
Yasunaga, T.6
Tanaka, T.7
Hibi, I.8
-
13
-
-
0033343119
-
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
-
14
-
-
0033306854
-
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia
-
Katsumata N, Kawada Y, Yamamoto Y, Noda M, Nimura A, Horikawa R, Tanaka T (1999) A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 84: 3983-3987.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3983-3987
-
-
Katsumata, N.1
Kawada, Y.2
Yamamoto, Y.3
Noda, M.4
Nimura, A.5
Horikawa, R.6
Tanaka, T.7
-
15
-
-
0033756526
-
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
-
16
-
-
0034854545
-
Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia
-
Achermann JC, Meeks JJ, Jeffs B, Das U, Clayton PE, Brook CG, Jameson JL (2001) Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. Mol Genet Metab 73: 354-357.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 354-357
-
-
Achermann, J.C.1
Meeks, J.J.2
Jeffs, B.3
Das, U.4
Clayton, P.E.5
Brook, C.G.6
Jameson, J.L.7
-
17
-
-
10744231203
-
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein
-
Gonzalez AA, Reyes ML, Carvajal CA, Tobar JA, Mosso LM, Baquedano P, Solar A, Venegas A, Fardella CE (2004) Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. J Clin Endocrinol Metab 89: 946-951.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 946-951
-
-
Gonzalez, A.A.1
Reyes, M.L.2
Carvajal, C.A.3
Tobar, J.A.4
Mosso, L.M.5
Baquedano, P.6
Solar, A.7
Venegas, A.8
Fardella, C.E.9
-
19
-
-
14044251615
-
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
-
20
-
-
24344436769
-
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia
-
Fluck 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
-
-
Fluck, 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
-
21
-
-
0023684064
-
A general method of in vitro preparation and specific mutageneis of DNA fragments: Study of protein and DNA interaction
-
Higuchi R, Krummel B, Saiki RD (1988) A general method of in vitro preparation and specific mutageneis of DNA fragments: study of protein and DNA interaction. Nucl Acids Res 16: 7351-7367.
-
(1988)
Nucl Acids Res
, vol.16
, pp. 7351-7367
-
-
Higuchi, R.1
Krummel, B.2
Saiki, R.D.3
-
22
-
-
0027311918
-
Construction and function of fusion enzymes of the human cytochrome P450scc system
-
Harikrishna JA, Black SM, Szklarz GD, Miller WL (1993) Construction and function of fusion enzymes of the human cytochrome P450scc system. DNA Cell Biol 12: 371-379.
-
(1993)
DNA Cell Biol
, vol.12
, pp. 371-379
-
-
Harikrishna, J.A.1
Black, S.M.2
Szklarz, G.D.3
Miller, W.L.4
-
23
-
-
0030777963
-
Localization of the steroidogenic acute regulatory protein in human tissues
-
Pollack SE, Furth EE, Kallen CB, Arakane F, Kiriakidou M, Kozarsky KF, Strauss JF III (1997) Localization of the steroidogenic acute regulatory protein in human tissues. J Clin Endocrinol Metab 82: 4243-4251.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 4243-4251
-
-
Pollack, S.E.1
Furth, E.E.2
Kallen, C.B.3
Arakane, F.4
Kiriakidou, M.5
Kozarsky, K.F.6
Strauss III, J.F.7
-
24
-
-
0028786533
-
Molecular cloning and in vivo expression of the bovine steroidogenic acute regulatory protein
-
Hartung S, Rust W, Balvers M, Ivell R (1995) Molecular cloning and in vivo expression of the bovine steroidogenic acute regulatory protein. Biochem Biophys Res Commun 215: 646-653.
-
(1995)
Biochem Biophys Res Commun
, vol.215
, pp. 646-653
-
-
Hartung, S.1
Rust, W.2
Balvers, M.3
Ivell, R.4
-
25
-
-
0028860514
-
Hormonal regulation of messenger ribonucleic acid encoding steroidogenic acute regulatory protein in ovine corpora lutea
-
Juengel JL, Meberg BM, Turzillo AM, Nett TM, Niswender GD (1995) Hormonal regulation of messenger ribonucleic acid encoding steroidogenic acute regulatory protein in ovine corpora lutea. Endocrinology 136: 5423-5429.
-
(1995)
Endocrinology
, vol.136
, pp. 5423-5429
-
-
Juengel, J.L.1
Meberg, B.M.2
Turzillo, A.M.3
Nett, T.M.4
Niswender, G.D.5
-
26
-
-
0031053550
-
Porcine and bovine steroidogenic acute regulatory protein (StAR) gene expression during gestation
-
Pilon N, Daneau I, Brisson C, Ethier JF, Lussier JG, Silversides DW (1997) Porcine and bovine steroidogenic acute regulatory protein (StAR) gene expression during gestation. Endocrinology 138: 1085-1091.
-
(1997)
Endocrinology
, vol.138
, pp. 1085-1091
-
-
Pilon, N.1
Daneau, I.2
Brisson, C.3
Ethier, J.F.4
Lussier, J.G.5
Silversides, D.W.6
-
27
-
-
7244245762
-
Finishing the euchromatic sequence of the human genome
-
International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431: 931-945.
-
(2004)
Nature
, vol.431
, pp. 931-945
-
-
-
28
-
-
0037591389
-
StAR-related lipid transfer (START) proteins: Mediators of intracellular lipid metabolism
-
Soccio RE, Breslow JL (2003) StAR-related lipid transfer (START) proteins: mediators of intracellular lipid metabolism. J Biol Chem 278: 22183-22186.
-
(2003)
J Biol Chem
, vol.278
, pp. 22183-22186
-
-
Soccio, R.E.1
Breslow, J.L.2
-
29
-
-
0029149178
-
Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17
-
Tomasetto C, Regnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, Basset P, Rio MC (1995) Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. Genomics 28: 367-376.
-
(1995)
Genomics
, vol.28
, pp. 367-376
-
-
Tomasetto, C.1
Regnier, C.2
Moog-Lutz, C.3
Mattei, M.G.4
Chenard, M.P.5
Lidereau, R.6
Basset, P.7
Rio, M.C.8
-
30
-
-
15144339408
-
Isolation of a candidate gene, CAB1, for cholesterol transport to mitochondria from the c-ERBB-2 amplicon by a modified cDNA selection method
-
Akiyama N, Sasaki H, Ishizuka T, Kishi T, Sakamoto H, Onda M, Hirai H, Yazaki Y, Sugimura T, Terada M (1997) Isolation of a candidate gene, CAB1, for cholesterol transport to mitochondria from the c-ERBB-2 amplicon by a modified cDNA selection method. Cancer Res 57: 3548-3553.
-
(1997)
Cancer Res
, vol.57
, pp. 3548-3553
-
-
Akiyama, N.1
Sasaki, H.2
Ishizuka, T.3
Kishi, T.4
Sakamoto, H.5
Onda, M.6
Hirai, H.7
Yazaki, Y.8
Sugimura, T.9
Terada, M.10
-
31
-
-
0030991255
-
MLN64 exhibits homology with the steroidogenic acute regulatory protein (STAR) and is overexpressed in human breast carcinomas
-
Moog-Lutz C, Tomasetto C, Regnier CH, Wendling C, Lutz Y, Muller D, Chenard MP, Basset P, Rio MC (1997) MLN64 exhibits homology with the steroidogenic acute regulatory protein (STAR) and is overexpressed in human breast carcinomas. Int J Cancer 71: 183-191.
-
(1997)
Int J Cancer
, vol.71
, pp. 183-191
-
-
Moog-Lutz, C.1
Tomasetto, C.2
Regnier, C.H.3
Wendling, C.4
Lutz, Y.5
Muller, D.6
Chenard, M.P.7
Basset, P.8
Rio, M.C.9
-
32
-
-
0030737565
-
MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis
-
Watari H, Arakane F, Moog-Lutz C, Kallen CB, Tomasetto C, Gerton GL, Rio MC, Baker ME, Strauss JF III (1997) MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis. Proc Natl Acad Sci USA 94: 8462-8467.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 8462-8467
-
-
Watari, H.1
Arakane, F.2
Moog-Lutz, C.3
Kallen, C.B.4
Tomasetto, C.5
Gerton, G.L.6
Rio, M.C.7
Baker, M.E.8
Strauss III, J.F.9
-
33
-
-
0034064138
-
Structure and lipid transport mechanism of a StAR-related domain
-
Tsujishita Y, Hurley JH (2000) Structure and lipid transport mechanism of a StAR-related domain. Nat Struct Biol 7: 408-414.
-
(2000)
Nat Struct Biol
, vol.7
, pp. 408-414
-
-
Tsujishita, Y.1
Hurley, J.H.2
-
34
-
-
0037076327
-
Crystal structure of the Mus musculus cholesterol-regulated START protein 4 (StarD4) containing a StAR-related lipid transfer domain
-
Romanowski MJ, Soccio RE, Breslow JL, Burley SK (2002) Crystal structure of the Mus musculus cholesterol-regulated START protein 4 (StarD4) containing a StAR-related lipid transfer domain. Proc Natl Acad Sci USA 99: 6949-6954.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 6949-6954
-
-
Romanowski, M.J.1
Soccio, R.E.2
Breslow, J.L.3
Burley, S.K.4
|