-
1
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001;69:49-54.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
Dahia, P.L.4
Douglas, F.5
George, E.6
Skoldberg, F.7
Husebye, E.S.8
Eng, C.9
Maher, E.R.10
-
2
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW, III, Cornelisse CJ, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848-51.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
Van Der Mey, A.7
Taschner, P.E.8
Rubinstein, W.S.9
Myers, E.N.10
Richard III, C.W.11
Cornelisse, C.J.12
-
3
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26:268-70.
-
(2000)
Nat Genet
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Muller, U.2
-
4
-
-
2942531063
-
Mitochondrial defects in cancer
-
Carew JS, Huang P. Mitochondrial defects in cancer. Mol Cancer 2002;1:9.
-
(2002)
Mol Cancer
, vol.1
, pp. 9
-
-
Carew, J.S.1
Huang, P.2
-
5
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
-
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002;30:406-10.
-
(2002)
Nat Genet
, vol.30
, pp. 406-410
-
-
Tomlinson, I.P.1
Alam, N.A.2
Rowan, A.J.3
Barclay, E.4
Jaeger, E.E.5
Kelsell, D.6
Leigh, I.7
Gorman, P.8
Lamlum, H.9
Rahman, S.10
Roylance, R.R.11
Olpin, S.12
-
6
-
-
0037102441
-
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families
-
Kiuru M, Lehtonen R, Arola J, Salovaara R, Jarvinen H, Aittomaki K, Sjoberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, et al. Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res 2002;62:4554-7.
-
(2002)
Cancer Res
, vol.62
, pp. 4554-4557
-
-
Kiuru, M.1
Lehtonen, R.2
Arola, J.3
Salovaara, R.4
Jarvinen, H.5
Aittomaki, K.6
Sjoberg, J.7
Visakorpi, T.8
Knuutila, S.9
Isola, J.10
Delahunt, B.11
Herva, R.12
-
7
-
-
0035853166
-
Inherited susceptibility to uterine leiomyomas and renal cell cancer
-
Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 2001;98:3387-92.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 3387-3392
-
-
Launonen, V.1
Vierimaa, O.2
Kiuru, M.3
Isola, J.4
Roth, S.5
Pukkala, E.6
Sistonen, P.7
Herva, R.8
Aaltonen, L.A.9
-
8
-
-
0028246154
-
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency
-
Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 1994;93:2514-8.
-
(1994)
J Clin Invest
, vol.93
, pp. 2514-2518
-
-
Bourgeron, T.1
Chretien, D.2
Poggi-Bach, J.3
Doonan, S.4
Rabier, D.5
Letouze, P.6
Munnich, A.7
Rotig, A.8
Landrieu, P.9
Rustin, P.10
-
9
-
-
0022534603
-
Fumarase deficiency: A new cause of mitochondrial encephalomyopathy
-
Zinn AB, Kerr DS, Hoppel CL. Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. N Engl J Med 1986;315:469-75.
-
(1986)
N Engl J Med
, vol.315
, pp. 469-475
-
-
Zinn, A.B.1
Kerr, D.S.2
Hoppel, C.L.3
-
10
-
-
4243918169
-
Identification of a molecular defect in a fumarase deficient patient and mapping of the fumarase gene
-
Coughlin E, Chalmers R, Slaugenhaupt S, Gusella J, Shih V, Ramesh V. Identification of a molecular defect in a fumarase deficient patient and mapping of the fumarase gene. Am J Hum Genet 1993;53(suppl): A896.
-
(1993)
Am J Hum Genet
, vol.53
-
-
Coughlin, E.1
Chalmers, R.2
Slaugenhaupt, S.3
Gusella, J.4
Shih, V.5
Ramesh, V.6
-
11
-
-
9744276042
-
Hereditary leiomyomatosis and renal cell cancer (HLRCC)
-
Kiuru M, Launonen V. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med 2004;4:869-75.
-
(2004)
Curr Mol Med
, vol.4
, pp. 869-875
-
-
Kiuru, M.1
Launonen, V.2
-
12
-
-
12444259659
-
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
-
Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, et al. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003;12:1241-52.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1241-1252
-
-
Alam, N.A.1
Rowan, A.J.2
Wortham, N.C.3
Pollard, P.J.4
Mitchell, M.5
Tyrer, J.P.6
Barclay, E.7
Calonje, E.8
Manek, S.9
Adams, S.J.10
Bowers, P.W.11
Burrows, N.P.12
-
13
-
-
0037713729
-
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America
-
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003;73:95-106.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 95-106
-
-
Toro, J.R.1
Nickerson, M.L.2
Wei, M.H.3
Warren, M.B.4
Glenn, G.M.5
Turner, M.L.6
Stewart, L.7
Duray, P.8
Tourre, O.9
Sharma, N.10
Choyke, P.11
Stratton, P.12
-
14
-
-
13244279482
-
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer
-
Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA. Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol 2005;30:75-8.
-
(2005)
Clin Exp Dermatol
, vol.30
, pp. 75-78
-
-
Chan, I.1
Wong, T.2
Martinez-Mir, A.3
Christiano, A.M.4
McGrath, J.A.5
-
15
-
-
0141956454
-
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata
-
Martinez-Mir A, Glaser B, Chuang GS, Horev L, Waldman A, Engler DE, Gordon D, Spelman LJ, Hatzibougias I, Green J, Christiano AM, Zlotogorski A. Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol 2003;121:741-4.
-
(2003)
J Invest Dermatol
, vol.121
, pp. 741-744
-
-
Martinez-Mir, A.1
Glaser, B.2
Chuang, G.S.3
Horev, L.4
Waldman, A.5
Engler, D.E.6
Gordon, D.7
Spelman, L.J.8
Hatzibougias, I.9
Green, J.10
Christiano, A.M.11
Zlotogorski, A.12
-
16
-
-
0024199522
-
Purification and structural comparisons of the cytosolic and mitochondrial fumarases from baker's yeast
-
Boonyarat D, Doonan S. Purification and structural comparisons of the cytosolic and mitochondrial fumarases from baker's yeast. Int J Biochem 1988;20:1125-32.
-
(1988)
Int J Biochem
, vol.20
, pp. 1125-1132
-
-
Boonyarat, D.1
Doonan, S.2
-
17
-
-
0032049510
-
Molecular analysis and prenatal diagnosis of human fumarase deficiency
-
Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 1998;63:254-62.
-
(1998)
Mol Genet Metab
, vol.63
, pp. 254-262
-
-
Coughlin, E.M.1
Christensen, E.2
Kunz, P.L.3
Krishnamoorthy, K.S.4
Walker, V.5
Dennis, N.R.6
Chalmers, R.A.7
Elpeleg, O.N.8
Whelan, D.9
Pollitt, R.J.10
Ramesh, V.11
Mandell, R.12
-
18
-
-
10244239321
-
Life with 6000 genes
-
Goffeau A, Barrell BG, Bussey H, Davis RW, Dujon B, Feldmann H, Galibert F, Hoheisel JD, Jacq C, Johnston M, Louis EJ, Mewes HW, et al. Life with 6000 genes. Science 1996;274:546,563-7.
-
(1996)
Science
, vol.274
, pp. 546
-
-
Goffeau, A.1
Barrell, B.G.2
Bussey, H.3
Davis, R.W.4
Dujon, B.5
Feldmann, H.6
Galibert, F.7
Hoheisel, J.D.8
Jacq, C.9
Johnston, M.10
Louis, E.J.11
Mewes, H.W.12
-
19
-
-
0032426882
-
The complete sequence of the mitochondrial genome of Saccharomyces cerevisiae
-
Foury F, Roganti T, Lecrenier N, Purnelle B. The complete sequence of the mitochondrial genome of Saccharomyces cerevisiae. FEBS Lett 1998;440:325-31.
-
(1998)
FEBS Lett
, vol.440
, pp. 325-331
-
-
Foury, F.1
Roganti, T.2
Lecrenier, N.3
Purnelle, B.4
-
20
-
-
0032509179
-
Comparison of the complete protein sets of worm and yeast: Orthology and divergence
-
Chervitz SA, Aravind L, Sherlock G, Ball CA, Koonin EV, Dwight SS, Harris MA, Dolinski K, Mohr S, Smith T, Weng S, Cherry JM, et al. Comparison of the complete protein sets of worm and yeast: orthology and divergence. Science 1998;282:2022-8.
-
(1998)
Science
, vol.282
, pp. 2022-2028
-
-
Chervitz, S.A.1
Aravind, L.2
Sherlock, G.3
Ball, C.A.4
Koonin, E.V.5
Dwight, S.S.6
Harris, M.A.7
Dolinski, K.8
Mohr, S.9
Smith, T.10
Weng, S.11
Cherry, J.M.12
-
21
-
-
0028676232
-
New heterologous modules for classical or PCR-based gene disruptions in Saccharomyces cerevisiae
-
Wach A, Brachat A, Pohlmann R, Philippsen P. New heterologous modules for classical or PCR-based gene disruptions in Saccharomyces cerevisiae. Yeast 1994;10:1793-808.
-
(1994)
Yeast
, vol.10
, pp. 1793-1808
-
-
Wach, A.1
Brachat, A.2
Pohlmann, R.3
Philippsen, P.4
-
22
-
-
0026562884
-
Improved method for high efficiency transformation of intact yeast cells
-
Gietz D, St Jean A, Woods RA, Schiestl RH. Improved method for high efficiency transformation of intact yeast cells. Nucleic Acids Res 1992;20:1425.
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 1425
-
-
Gietz, D.1
St Jean, A.2
Woods, R.A.3
Schiestl, R.H.4
-
23
-
-
0003855149
-
Preparation of yeast DNA
-
Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K, eds. New York: Greene Publishing Associates/Wiley-Interscience
-
Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Strahl K. Preparation of yeast DNA. In: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K, eds. Current protocols in molecular biology, vol. 4. New York: Greene Publishing Associates/Wiley-Interscience. 1989. 13.11.2-13.11.4.
-
(1989)
Current Protocols in Molecular Biology
, vol.4
-
-
Ausubel, F.M.1
Brent, R.2
Kingston, R.E.3
Moore, D.D.4
Seidman, J.G.5
Smith, J.A.6
Strahl, K.7
-
24
-
-
0024669291
-
A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae
-
Sikorski RS, Hieter P. A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae. Genetics 1989;122:19-27.
-
(1989)
Genetics
, vol.122
, pp. 19-27
-
-
Sikorski, R.S.1
Hieter, P.2
-
25
-
-
0017819382
-
A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts
-
Hatch MD. A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem 1978;85:271-75.
-
(1978)
Anal Biochem
, vol.85
, pp. 271-275
-
-
Hatch, M.D.1
-
26
-
-
0038175144
-
GoMiner: A resource for biological interpretation of genomic and proteomic data
-
Zeeberg BR, Feng W, Wang G, Wang MD, Fojo AT, Sunshine M, Narasimhan S, Kane DW, Reinhold WC, Lababidi S, Bussey KJ, Riss J, et al. GoMiner: a resource for biological interpretation of genomic and proteomic data. Genome Biol 2003;4:R28.
-
(2003)
Genome Biol
, vol.4
-
-
Zeeberg, B.R.1
Feng, W.2
Wang, G.3
Wang, M.D.4
Fojo, A.T.5
Sunshine, M.6
Narasimhan, S.7
Kane, D.W.8
Reinhold, W.C.9
Lababidi, S.10
Bussey, K.J.11
Riss, J.12
-
27
-
-
0034069495
-
The Gene Ontology Consortium. Gene ontology: Tool for the unification of biology
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA, Hill DP, et al. The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat Genet 2000;25:25-9.
-
(2000)
Nat Genet
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
Harris, M.A.11
Hill, D.P.12
-
28
-
-
0037342698
-
Global transcription analysis of Krebs tricarboxylic acid cycle mutants reveals an alternating pattern of gene expression and effects on hypoxic and oxidative genes
-
McCammon MT, Epstein CB, Przybyla-Zawislak B, McAlister-Henn L, Butow RA. Global transcription analysis of Krebs tricarboxylic acid cycle mutants reveals an alternating pattern of gene expression and effects on hypoxic and oxidative genes. Mol Biol Cell 2003;14:958-72.
-
(2003)
Mol Biol Cell
, vol.14
, pp. 958-972
-
-
McCammon, M.T.1
Epstein, C.B.2
Przybyla-Zawislak, B.3
McAlister-Henn, L.4
Butow, R.A.5
|