-
1
-
-
34250355048
-
Mitochondrial genetic background modifies breast cancer risk
-
Bai, R. K., Leal, S. M., Covarrubias, D., Liu, A., and Wong, L. J. (2007). Mitochondrial genetic background modifies breast cancer risk. Cancer Res. 67, 4687-4694.
-
(2007)
Cancer Res
, vol.67
, pp. 4687-4694
-
-
Bai, R.K.1
Leal, S.M.2
Covarrubias, D.3
Liu, A.4
Wong, L.J.5
-
2
-
-
25444474703
-
Mitochondria take center stage in aging and neurodegeneration
-
Beal, M. F. (2005). Mitochondria take center stage in aging and neurodegeneration. Ann. Neurol. 58, 495-505.
-
(2005)
Ann. Neurol.
, vol.58
, pp. 495-505
-
-
Beal, M.F.1
-
3
-
-
33750953227
-
Whole-genome re-sequencing
-
Bentley, D. R. (2006). Whole-genome re-sequencing. Curr. Opin. Genet. Dev. 16, 545-552.
-
(2006)
Curr. Opin. Genet. Dev.
, vol.16
, pp. 545-552
-
-
Bentley, D.R.1
-
4
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer, W., and Bonilla, C. (2008). Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 40, 695-701.
-
(2008)
Nat. Genet.
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
5
-
-
24744442376
-
Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women
-
Canter, J. A., Kallianpur, A. R., Parl, F. F., and Millikan, R. C. (2005). Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res. 65, 8028-8033.
-
(2005)
Cancer Res
, vol.65
, pp. 8028-8033
-
-
Canter, J.A.1
Kallianpur, A.R.2
Parl, F.F.3
Millikan, R.C.4
-
6
-
-
33748509495
-
Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy
-
Castro, M. G., Huerta, C., Reguero, J. R., Soto, M. I., Doménech, E., Alvarez, V., Gómez-Zaera, M., Nunes, V., González, P., Corao, A., and Coto, E. (2006). Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy. Int. J. Cardiol. 112, 202-206.
-
(2006)
Int. J. Cardiol.
, vol.112
, pp. 202-206
-
-
Castro, M.G.1
Huerta, C.2
Reguero, J.R.3
Soto, M.I.4
Doménech, E.5
Alvarez, V.6
Gómez-Zaera, M.7
Nunes, V.8
González, P.9
Corao, A.10
Coto, E.11
-
7
-
-
84984932946
-
Population genetics-making sense out of sequence
-
Chakravarti, A. (1999). Population genetics-making sense out of sequence. Nat. Genet. 21(1 Suppl.), 56-60.
-
(1999)
Nat. Genet.
, vol.21
, Issue.1 SUPPL. 1
, pp. 56-60
-
-
Chakravarti, A.1
-
8
-
-
52649175410
-
Mitochondrial DNA variant interactions modify breast cancer risk
-
Covarrubias, D., Bai, R. K., Wong, L. J., and Leal, S. M. (2008). Mitochondrial DNA variant interactions modify breast cancer risk. J. Hum. Genet. 53, 924-928.
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 924-928
-
-
Covarrubias, D.1
Bai, R.K.2
Wong, L.J.3
Leal, S.M.4
-
9
-
-
77249134594
-
Rare variants create synthetic genome-wide associations
-
doi: 10.1371/journal.pbio.1000294
-
Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H., and Goldstein, D. B. (2010). Rare variants create synthetic genome-wide associations. PLoS Biol. 8, e1000294. doi: 10.1371/journal.pbio.1000294
-
(2010)
PLoS Biol
, vol.8
-
-
Dickson, S.P.1
Wang, K.2
Krantz, I.3
Hakonarson, H.4
Goldstein, D.B.5
-
10
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
Dimauro, S., and Schon, E. A. (2003). Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656-2668.
-
(2003)
N. Engl. J. Med.
, vol.348
, pp. 2656-2668
-
-
Dimauro, S.1
Schon, E.A.2
-
11
-
-
63949086651
-
Quantification of rare allelic variants from pooled genomic DNA
-
Druley, T. E., Vallania, F. L. M., Wegner, D. J., Varley, K. E., Knowles, O. L., Bonds, J. A., Robison, S. W., Doniger, S. W., Hamvas, A., Cole, F. S., Fay, J. C., and Mitra, R. D. (2009a). Quantification of rare allelic variants from pooled genomic DNA. Nat. Methods 6, 263-265.
-
(2009)
Nat. Methods
, vol.6
, pp. 263-265
-
-
Druley, T.E.1
Vallania, F.L.M.2
Wegner, D.J.3
Varley, K.E.4
Knowles, O.L.5
Bonds, J.A.6
Robison, S.W.7
Doniger, S.W.8
Hamvas, A.9
Cole, F.S.10
Fay, J.C.11
Mitra, R.D.12
-
12
-
-
63949086651
-
Quantification of rare allelic variants from pooled genomic DNA
-
Druley, T. E., Vallania, F. L., Wegner, D. J., Varley, K. E., Knowles, O. L., Bonds, J. A., Robison, S. W., Doniger, S. W., Hamvas, A., Cole, F. S., Fay, J. C., and Mitra, R. D. (2009b). Quantification of rare allelic variants from pooled genomic DNA. Nat. Methods 6, 263-265.
-
(2009)
Nat. Methods
, vol.6
, pp. 263-265
-
-
Druley, T.E.1
Vallania, F.L.2
Wegner, D.J.3
Varley, K.E.4
Knowles, O.L.5
Bonds, J.A.6
Robison, S.W.7
Doniger, S.W.8
Hamvas, A.9
Cole, F.S.10
Fay, J.C.11
Mitra, R.D.12
-
13
-
-
60749100685
-
SNP frequency estimation using massively parallel sequencing of pooled DNA
-
Ingman, M., and Gyllensten, U. (2009). SNP frequency estimation using massively parallel sequencing of pooled DNA. Eur. J. Hum. Genet. 17, 383-386.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 383-386
-
-
Ingman, M.1
Gyllensten, U.2
-
14
-
-
0037320552
-
Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data
-
Ito, T., Chiku, S., Inoue, E., Tomita, M., Morisaki, T., Morisaki, H., and Kamatani, N. (2003). Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data. Am. J. Hum. Genet. 72, 384-398.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 384-398
-
-
Ito, T.1
Chiku, S.2
Inoue, E.3
Tomita, M.4
Morisaki, T.5
Morisaki, H.6
Kamatani, N.7
-
15
-
-
0030221371
-
Cellular activation mediated by nitric oxide
-
Lander, H. M. (1996). Cellular activation mediated by nitric oxide. Methods 10, 15-20.
-
(1996)
Methods
, vol.10
, pp. 15-20
-
-
Lander, H.M.1
-
16
-
-
0347988090
-
Pyrosequencing-based SNP allele frequency estimation in DNA pools
-
Lavebratt, C., Sengul, S., Jansson, M., and Schalling, M. (2004). Pyrosequencing-based SNP allele frequency estimation in DNA pools. Hum. Mutat. 23, 92-97.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 92-97
-
-
Lavebratt, C.1
Sengul, S.2
Jansson, M.3
Schalling, M.4
-
17
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H., and Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
18
-
-
68549104404
-
Genome Project Data Processing Subgroup
-
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., 1000 Genome Project Data Processing Subgroup. (2009). The sequence alignment/map format and SAMtools. Bioinformatics 25, 2078-2079.
-
(1000)
(2009). The sequence alignment/map format and SAMtools. Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
19
-
-
12344305124
-
Mitochondrial dysfunction and type 2 diabetes
-
Lowell, B. B., and Shulman, G. I. (2005). Mitochondrial dysfunction and type 2 diabetes. Science 307, 384-387.
-
(2005)
Science
, vol.307
, pp. 384-387
-
-
Lowell, B.B.1
Shulman, G.I.2
-
20
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., Mccarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., Cho, J. H., Guttmacher, A. E., Kong, A., Kruglyak, L., Mardis, E., Rotimi, C. N., Slatkin, M., Valle, D., Whittemore, A. S., Boehnke, M., Clark, A. G., Eichler, E. E., Gibson, G., Haines, J. L., Mackay, T. F., Mccarroll, S. A., and Visscher, P. M. (2009). Finding the missing heritability of complex diseases. Nature 461, 747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
Mccarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
Cho, J.H.11
Guttmacher, A.E.12
Kong, A.13
Kruglyak, L.14
Mardis, E.15
Rotimi, C.N.16
Slatkin, M.17
Valle, D.18
Whittemore, A.S.19
Boehnke, M.20
Clark, A.G.21
Eichler, E.E.22
Gibson, G.23
Haines, J.L.24
Mackay, T.F.25
Mccarroll, S.A.26
Visscher, P.M.27
more..
-
21
-
-
20144388947
-
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing
-
Margulies, E. H., Vinson, J. P., Miller, W., Jaffe, D. B., Lindblad-Toh, K., Chang, J. L., Green, E. D., Lander, E. S., Mullikin, J. C., and Clamp, M. (2005). An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc. Natl. Acad. Sci. U.S.A. 102, 4795-4800.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 4795-4800
-
-
Margulies, E.H.1
Vinson, J.P.2
Miller, W.3
Jaffe, D.B.4
Lindblad-Toh, K.5
Chang, J.L.6
Green, E.D.7
Lander, E.S.8
Mullikin, J.C.9
Clamp, M.10
-
22
-
-
44849122207
-
Power and SNP tagging in whole mitochondrial genome association studies
-
Mcrae, A. F., Byrne, E. M., Zhao, Z. Z., Montgomery, G. W., and Visscher, P. M. (2008). Power and SNP tagging in whole mitochondrial genome association studies. Genome Res. 18, 911-917.
-
(2008)
Genome Res
, vol.18
, pp. 911-917
-
-
Mcrae, A.F.1
Byrne, E.M.2
Zhao, Z.Z.3
Montgomery, G.W.4
Visscher, P.M.5
-
23
-
-
0038268052
-
Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age
-
Miller, F. J., Rosenfeldt, F. L., Zhang, C., Linnane, A. W., and Nagley, P. (2003). Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age. Nucleic Acids Res. 31, e61.
-
(2003)
Nucleic Acids Res
, vol.31
-
-
Miller, F.J.1
Rosenfeldt, F.L.2
Zhang, C.3
Linnane, A.W.4
Nagley, P.5
-
24
-
-
0020406173
-
Molecular clock of silent substitution: at least six-fold preponderance of silent changes in mitochondrial genes over those in nuclear genes
-
Miyata, T., Hayashida, H., Kikuno, R., Hasegawa, M., Kobayashi, M., and Koike, K. (1982). Molecular clock of silent substitution: at least six-fold preponderance of silent changes in mitochondrial genes over those in nuclear genes. J. Mol. Evol. 19, 28-35.
-
(1982)
J. Mol. Evol.
, vol.19
, pp. 28-35
-
-
Miyata, T.1
Hayashida, H.2
Kikuno, R.3
Hasegawa, M.4
Kobayashi, M.5
Koike, K.6
-
25
-
-
65249131713
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
Nejentsev, S., Walker, N., Riches, D., Egholm, M., and Todd, J. A. (2009). Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387-389.
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
Egholm, M.4
Todd, J.A.5
-
26
-
-
20044364344
-
mtDNA mutations increase tumorigenicity in prostate cancer
-
Petros, J. A., Baumann, A. K., Ruiz-Pesini, E., Amin, M. B., Sun, C. Q., Hall, J., Lim, S., Issa, M. M., Flanders, W. D., Hosseini, S. H., Marshall, F. F., and Wallace, D. C. (2005). mtDNA mutations increase tumorigenicity in prostate cancer. Proc. Natl. Acad. Sci. U.S.A. 102, 719-724.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 719-724
-
-
Petros, J.A.1
Baumann, A.K.2
Ruiz-Pesini, E.3
Amin, M.B.4
Sun, C.Q.5
Hall, J.6
Lim, S.7
Issa, M.M.8
Flanders, W.D.9
Hosseini, S.H.10
Marshall, F.F.11
Wallace, D.C.12
-
27
-
-
0036433069
-
The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland
-
Poulton, J., Bednarz, A. L., Scott-Brown, M., Thompson, C., Macaulay, V. A., and Simmons, D. (2002). The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland. Diabet. Med. 19, 969-971.
-
(2002)
Diabet. Med.
, vol.19
, pp. 969-971
-
-
Poulton, J.1
Bednarz, A.L.2
Scott-Brown, M.3
Thompson, C.4
Macaulay, V.A.5
Simmons, D.6
-
28
-
-
15644370476
-
A common mitochondrial DNA variant is associated with insulin resistance in adult life
-
Poulton, J., Brown, M. S., Cooper, A., Marchington, D. R., and Phillips, D. I. (1998). A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 41, 54-58.
-
(1998)
Diabetologia
, vol.41
, pp. 54-58
-
-
Poulton, J.1
Brown, M.S.2
Cooper, A.3
Marchington, D.R.4
Phillips, D.I.5
-
29
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich, D. E., and Lander, E. S. (2001). On the allelic spectrum of human disease. Trends Genet. 17, 502-510.
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
30
-
-
0347356538
-
Effects of purifying and adaptive selection on regional variation in human mtDNA
-
Ruiz-Pesini, E., Mishmar, D., Brandon, M., Procaccio, V., and Wallace, D. C. (2004). Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303, 223-226.
-
(2004)
Science
, vol.303
, pp. 223-226
-
-
Ruiz-Pesini, E.1
Mishmar, D.2
Brandon, M.3
Procaccio, V.4
Wallace, D.C.5
-
31
-
-
18244372432
-
Mechanisms of insulin resistance in humans and possible links with inflammation
-
Savage, D. B., Petersen, K. F., and Shulman, G. I. (2005). Mechanisms of insulin resistance in humans and possible links with inflammation. Hypertension 45, 828-833.
-
(2005)
Hypertension
, vol.45
, pp. 828-833
-
-
Savage, D.B.1
Petersen, K.F.2
Shulman, G.I.3
-
32
-
-
0033032999
-
Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia
-
Schapira, A. H. (1999). Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim. Biophys. Acta 1410, 159-170.
-
(1999)
Biochim. Biophys. Acta
, vol.1410
, pp. 159-170
-
-
Schapira, A.H.1
-
33
-
-
0031889566
-
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes
-
Shaw, S. H., Carrasquillo, M. M., Kashuk, C., Puffenberger, E. G., and Chakravarti, A. (1998). Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res. 8, 111-123.
-
(1998)
Genome Res
, vol.8
, pp. 111-123
-
-
Shaw, S.H.1
Carrasquillo, M.M.2
Kashuk, C.3
Puffenberger, E.G.4
Chakravarti, A.5
-
34
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor, R. W., and Turnbull, D. M. (2005). Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6, 389-402.
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
35
-
-
23844558266
-
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine
-
Wallace, D. C. (2005). A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu. Rev. Genet. 39, 359-407.
-
(2005)
Annu. Rev. Genet.
, vol.39
, pp. 359-407
-
-
Wallace, D.C.1
-
36
-
-
0023240790
-
Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations
-
Wallace, D. C., Ye, J. H., Neckelmann, S. N., Singh, G., Webster, K. A., and Greenberg, B. D. (1987). Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations. Curr. Genet. 12, 81-90.
-
(1987)
Curr. Genet.
, vol.12
, pp. 81-90
-
-
Wallace, D.C.1
Ye, J.H.2
Neckelmann, S.N.3
Singh, G.4
Webster, K.A.5
Greenberg, B.D.6
-
37
-
-
77954194389
-
Resequencing of pooled DNA for detecting disease associations with rare variants
-
Wang, T., Lin, C. Y., Rohan, T. E., and Ye, K. (2010). Resequencing of pooled DNA for detecting disease associations with rare variants. Genet. Epidemiol. 34, 492-501.
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 492-501
-
-
Wang, T.1
Lin, C.Y.2
Rohan, T.E.3
Ye, K.4
-
38
-
-
54049140995
-
Association of mitochondrial DNA displacement loop (CA)n dinucleotide repeat polymorphism with breast cancer risk and survival among Chinese women
-
Ye, C., Gao, Y. T., Wen, W., Breyer, J. P., Shu, X. O., Smith, J. R., Zheng, W., and Cai, Q. (2008). Association of mitochondrial DNA displacement loop (CA)n dinucleotide repeat polymorphism with breast cancer risk and survival among Chinese women. Cancer Epidemiol. Biomarkers Prev. 17, 2117-2122.
-
(2008)
Cancer Epidemiol. Biomarkers Prev.
, vol.17
, pp. 2117-2122
-
-
Ye, C.1
Gao, Y.T.2
Wen, W.3
Breyer, J.P.4
Shu, X.O.5
Smith, J.R.6
Zheng, W.7
Cai, Q.8
-
39
-
-
77957925524
-
Mitochondrial DNA variant discovery and evaluation in human cardiomyopathies through next-generation sequencing
-
doi: 10.1371/journal.pone.0012295
-
Zaragoza, M. V., Fass, J., Diegoli, M., Lin, D., and Arbustini, E. (2010). Mitochondrial DNA variant discovery and evaluation in human cardiomyopathies through next-generation sequencing. PLoS ONE 5, e12295. doi: 10.1371/journal.pone.0012295
-
(2010)
PLoS ONE
, vol.5
-
-
Zaragoza, M.V.1
Fass, J.2
Diegoli, M.3
Lin, D.4
Arbustini, E.5
-
40
-
-
11144314695
-
Estimating haplotype-disease associations with pooled genotype data
-
Zeng, D., and Lin, D. Y. (2005). Estimating haplotype-disease associations with pooled genotype data. Genet. Epidemiol. 28, 70-82.
-
(2005)
Genet. Epidemiol.
, vol.28
, pp. 70-82
-
-
Zeng, D.1
Lin, D.Y.2
|