-
2
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., and Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nature Genetics 23 (1999) 147
-
(1999)
Nature Genetics
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
3
-
-
55749104018
-
Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness
-
Au W.S., Lu L., Yeung C.M., Liu C.C., Wong O.G., Lai L., Kung H.F., and Lin M.C. Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness. Journal of Molecular Endocrinology 41 (2008) 229-238
-
(2008)
Journal of Molecular Endocrinology
, vol.41
, pp. 229-238
-
-
Au, W.S.1
Lu, L.2
Yeung, C.M.3
Liu, C.C.4
Wong, O.G.5
Lai, L.6
Kung, H.F.7
Lin, M.C.8
-
4
-
-
13444256467
-
MITOMAP: A human mitochondrial genome database-2004 update
-
Brandon M.C., Lott M.T., Nguyen K.C., Spolim S., Navathe S.B., Baldi P., and Wallace D.C. MITOMAP: A human mitochondrial genome database-2004 update. Nucleic Acids Research 33 (2005) D611-D613
-
(2005)
Nucleic Acids Research
, vol.33
-
-
Brandon, M.C.1
Lott, M.T.2
Nguyen, K.C.3
Spolim, S.4
Navathe, S.B.5
Baldi, P.6
Wallace, D.C.7
-
5
-
-
0242573394
-
Comparison of methods for DNA extraction from paraffin-embedded tissues and buccal cells
-
Cao W., Hashibe M., Rao J.Y., Morgenstern H., and Zhang Z.F. Comparison of methods for DNA extraction from paraffin-embedded tissues and buccal cells. Cancer Detection and Prevention 27 (2003) 397-404
-
(2003)
Cancer Detection and Prevention
, vol.27
, pp. 397-404
-
-
Cao, W.1
Hashibe, M.2
Rao, J.Y.3
Morgenstern, H.4
Zhang, Z.F.5
-
6
-
-
84982289340
-
Development of a DNA biochip for detection of known mtDNA mutations associated with MELAS and MERRF syndromes
-
Chen G., Li W., DU W.D., Cao H.M., Tang H.Y., Tang X.F., Sun Z.W., Zhao H., Jin Q.H., Zhao J.L., and Zhang X.J. Development of a DNA biochip for detection of known mtDNA mutations associated with MELAS and MERRF syndromes. Yi Chuan 30 (2008) 1279-1286
-
(2008)
Yi Chuan
, vol.30
, pp. 1279-1286
-
-
Chen, G.1
Li, W.2
DU, W.D.3
Cao, H.M.4
Tang, H.Y.5
Tang, X.F.6
Sun, Z.W.7
Zhao, H.8
Jin, Q.H.9
Zhao, J.L.10
Zhang, X.J.11
-
7
-
-
33845809942
-
Familial history of type 2 diabetes in patients from Southern Brazil and its influence on the clinical characteristics of this disease
-
Crispim D., Canani L.H., Gross J.L., Tschiedel B., Souto K.E., and Roisenberg I. Familial history of type 2 diabetes in patients from Southern Brazil and its influence on the clinical characteristics of this disease. Arquivos Brasileiros de Endocrinologia e Metabologia 50 (2006) 862-868
-
(2006)
Arquivos Brasileiros de Endocrinologia e Metabologia
, vol.50
, pp. 862-868
-
-
Crispim, D.1
Canani, L.H.2
Gross, J.L.3
Tschiedel, B.4
Souto, K.E.5
Roisenberg, I.6
-
8
-
-
58849117552
-
Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness
-
Crispim D., Estivalet A.A., Roisenberg I., Gross J.L., and Canani L.H. Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. Arquivos Brasileiros de Endocrinologia e Metabologia 52 (2008) 1228-1235
-
(2008)
Arquivos Brasileiros de Endocrinologia e Metabologia
, vol.52
, pp. 1228-1235
-
-
Crispim, D.1
Estivalet, A.A.2
Roisenberg, I.3
Gross, J.L.4
Canani, L.H.5
-
9
-
-
0032914642
-
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review
-
Damore M.E., Speiser P.W., Slonim A.E., New M.I., Shanske S., Xia W., Santorelli F.M., and DiMauro S. Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review. Journal of Pediatric Endocrinology & Metabolism 12 (1999) 207-213
-
(1999)
Journal of Pediatric Endocrinology & Metabolism
, vol.12
, pp. 207-213
-
-
Damore, M.E.1
Speiser, P.W.2
Slonim, A.E.3
New, M.I.4
Shanske, S.5
Xia, W.6
Santorelli, F.M.7
DiMauro, S.8
-
10
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 348 (1990) 651-653
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
11
-
-
0028917662
-
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
-
Hanna M.G., Nelson I., Sweeney M.G., Cooper J.M., Watkins P.J., Morgan-Hughes J.A., and Harding A.E. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. American Journal of Human Genetics 56 (1995) 1026-1033
-
(1995)
American Journal of Human Genetics
, vol.56
, pp. 1026-1033
-
-
Hanna, M.G.1
Nelson, I.2
Sweeney, M.G.3
Cooper, J.M.4
Watkins, P.J.5
Morgan-Hughes, J.A.6
Harding, A.E.7
-
13
-
-
18844430007
-
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
-
Kirino Y., Goto Y., Campos I., Arenas Y., and Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proceedings of the National Academy of Sciences of USA 102 (2005) 7127-7132
-
(2005)
Proceedings of the National Academy of Sciences of USA
, vol.102
, pp. 7127-7132
-
-
Kirino, Y.1
Goto, Y.2
Campos, I.3
Arenas, Y.4
Suzuki, T.5
-
14
-
-
0025992003
-
Leu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
-
Leu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). American Journal of Human Genetics 49 (1991) 590-599
-
(1991)
American Journal of Human Genetics
, vol.49
, pp. 590-599
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
Shimoizumi, H.4
Nihei, K.5
Yanagisawa, M.6
Kagawa, Y.7
Ohta, S.8
-
15
-
-
4344669851
-
Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss
-
Kong W., Wang Q., Zheng X., and Cheng H. Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss. Zhonghua Er Bi Yan Hou Ke Za Zhi 37 (2002) 338-342
-
(2002)
Zhonghua Er Bi Yan Hou Ke Za Zhi
, vol.37
, pp. 338-342
-
-
Kong, W.1
Wang, Q.2
Zheng, X.3
Cheng, H.4
-
16
-
-
25144433792
-
Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome
-
Kornblum C., Broicher R., Walther E., Herberhold S., Klockgether T., Herberhold C., and Schroder R. Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. Journal of Neurology 252 (2005) 1101-1107
-
(2005)
Journal of Neurology
, vol.252
, pp. 1101-1107
-
-
Kornblum, C.1
Broicher, R.2
Walther, E.3
Herberhold, S.4
Klockgether, T.5
Herberhold, C.6
Schroder, R.7
-
17
-
-
8044255246
-
(Lys) 8344 mutations and diabetes mellitus in Korea
-
(Lys) 8344 mutations and diabetes mellitus in Korea. Journal of Clinical Endocrinology & Metabolism 82 (1997) 372-374
-
(1997)
Journal of Clinical Endocrinology & Metabolism
, vol.82
, pp. 372-374
-
-
Lee, H.C.1
Song, Y.D.2
Li, H.R.3
Park, J.O.4
Suh, H.C.5
Lee, E.6
Lim, S.7
Kim, K.8
Huh, K.9
-
18
-
-
0026739796
-
A simple method for DNA extraction from leukocytes for use in PCR
-
Lewin H.A., and Stewart-Haynes J.A. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 13 (1992) 522-524
-
(1992)
Biotechniques
, vol.13
, pp. 522-524
-
-
Lewin, H.A.1
Stewart-Haynes, J.A.2
-
19
-
-
51149087652
-
Mitochondrial gene mutations and type 2 diabetes in Chinese families
-
Li M.Z., Yu D.M., Yu P., Liu D.M., Wang K., and Tang X.Z. Mitochondrial gene mutations and type 2 diabetes in Chinese families. Chinese Medical Journal 121 (2008) 682-686
-
(2008)
Chinese Medical Journal
, vol.121
, pp. 682-686
-
-
Li, M.Z.1
Yu, D.M.2
Yu, P.3
Liu, D.M.4
Wang, K.5
Tang, X.Z.6
-
20
-
-
54749151061
-
Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population
-
Liao W.Q., Pang Y., Yu C.A., Wen J.Y., Zhang Y.G., and Li X.H. Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population. Tohoku Journal of Experimental Medicine 215 (2008) 377-384
-
(2008)
Tohoku Journal of Experimental Medicine
, vol.215
, pp. 377-384
-
-
Liao, W.Q.1
Pang, Y.2
Yu, C.A.3
Wen, J.Y.4
Zhang, Y.G.5
Li, X.H.6
-
21
-
-
74249088976
-
Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetes
-
10.2337/dc09-1258
-
Liu L., Zheng T., Wang F., Wang N., Song Y., Li M., Li L., Jiang J., and Zhao W. Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetes. Diabetes Care (2009) 10.2337/dc09-1258
-
(2009)
Diabetes Care
-
-
Liu, L.1
Zheng, T.2
Wang, F.3
Wang, N.4
Song, Y.5
Li, M.6
Li, L.7
Jiang, J.8
Zhao, W.9
-
22
-
-
33947609709
-
Novel mutations found in mitochondrial diabetes in Chinese Han population
-
Liu S.M., Zhou X., Zheng F., Li X., Liu F., Zhang H.M., and Xie Y. Novel mutations found in mitochondrial diabetes in Chinese Han population. Diabetes Research and Clinical Practice 76 (2007) 425-435
-
(2007)
Diabetes Research and Clinical Practice
, vol.76
, pp. 425-435
-
-
Liu, S.M.1
Zhou, X.2
Zheng, F.3
Li, X.4
Liu, F.5
Zhang, H.M.6
Xie, Y.7
-
23
-
-
0842285626
-
Mitochondrial diabetes: Molecular mechanisms and clinical presentation
-
Maassen J.A., 'T Hart L.M., Van Essen E., Heine R.J., Nijpels G., Jahangir Tafrechi R.S., Raap A.K., Janssen G.M., and Lemkes H.H. Mitochondrial diabetes: Molecular mechanisms and clinical presentation. Diabetes 53 Suppl 1 (2004) S103-S109
-
(2004)
Diabetes
, vol.53
, Issue.SUPPL. 1
-
-
Maassen, J.A.1
'T Hart, L.M.2
Van Essen, E.3
Heine, R.J.4
Nijpels, G.5
Jahangir Tafrechi, R.S.6
Raap, A.K.7
Janssen, G.M.8
Lemkes, H.H.9
-
24
-
-
10644230012
-
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation
-
Mancuso M., Ferraris S., Nishigaki Y., Azan G., Mauro A., Sammarco P., Krishna S., Tay S.K., Bonilla E., Romansky S.G., Hirano M., and DiMauro S. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. Journal of Neurological Sciences 228 (2005) 93-97
-
(2005)
Journal of Neurological Sciences
, vol.228
, pp. 93-97
-
-
Mancuso, M.1
Ferraris, S.2
Nishigaki, Y.3
Azan, G.4
Mauro, A.5
Sammarco, P.6
Krishna, S.7
Tay, S.K.8
Bonilla, E.9
Romansky, S.G.10
Hirano, M.11
DiMauro, S.12
-
25
-
-
12144289616
-
Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation
-
McFarland R., Schaefer A.M., Gardner A., Lynn S., Hayes C.M., and Barron M.J. Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation. Annals of Neurology 55 (2004) 478-484
-
(2004)
Annals of Neurology
, vol.55
, pp. 478-484
-
-
McFarland, R.1
Schaefer, A.M.2
Gardner, A.3
Lynn, S.4
Hayes, C.M.5
Barron, M.J.6
-
27
-
-
0034087941
-
Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese
-
Ng M.C., Yeung V.T., Chow C.C., Li J.K., Smith P.R., Mijovic C.H., Critchley J.A., Barnett A.H., Cockram C.S., and Chan J.C. Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese. Clinical Endocrinology 52 (2000) 557-564
-
(2000)
Clinical Endocrinology
, vol.52
, pp. 557-564
-
-
Ng, M.C.1
Yeung, V.T.2
Chow, C.C.3
Li, J.K.4
Smith, P.R.5
Mijovic, C.H.6
Critchley, J.A.7
Barnett, A.H.8
Cockram, C.S.9
Chan, J.C.10
-
28
-
-
0034866479
-
(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan
-
(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. Clinical Chemistry 47 (2001) 1641-1648
-
(2001)
Clinical Chemistry
, vol.47
, pp. 1641-1648
-
-
Ohkubo, K.1
Yamano, A.2
Nagashima, M.3
Mori, Y.4
Anzai, K.5
Akehi, Y.6
Nomiyama, R.7
Asano, T.8
Urae, A.9
Ono, J.10
-
29
-
-
67650681864
-
Tumour necrosis factor-alpha attenuates insulin action on phosphoenolpyruvate carboxykinase gene expression and gluconeogenesis by altering the cellular localization of Foxa2 in HepG2 cells
-
Pandey A.K., Bhardwaj V., and Datta M. Tumour necrosis factor-alpha attenuates insulin action on phosphoenolpyruvate carboxykinase gene expression and gluconeogenesis by altering the cellular localization of Foxa2 in HepG2 cells. FEBS Journal 276 (2009) 3757-3769
-
(2009)
FEBS Journal
, vol.276
, pp. 3757-3769
-
-
Pandey, A.K.1
Bhardwaj, V.2
Datta, M.3
-
30
-
-
0344436030
-
Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan
-
Pang C.Y., Huang C.C., Yen M.Y., Wang E.K., Kao K.P., Chen S.S., and Wei Y.H. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. Journal of the Formosan Medical Association 98 (1999) 326-334
-
(1999)
Journal of the Formosan Medical Association
, vol.98
, pp. 326-334
-
-
Pang, C.Y.1
Huang, C.C.2
Yen, M.Y.3
Wang, E.K.4
Kao, K.P.5
Chen, S.S.6
Wei, Y.H.7
-
31
-
-
0037417764
-
Leu(UUR) decreases the efficiency of aminoacylation
-
Leu(UUR) decreases the efficiency of aminoacylation. Biochemistry 42 (2003) 958-964
-
(2003)
Biochemistry
, vol.42
, pp. 958-964
-
-
Park, H.1
Davidson, E.2
King, M.P.3
-
32
-
-
0038511096
-
Molecular scanning of candidate mtDNA gene fragment in diabetic pedigrees
-
Ren Y., Li X.J., Tian H.M., Liang J.Z., Han L.C., Zang X.X., Yu H.L., Yu Y.R., Liu R., Zhao G.Z., and Wang J.N. Molecular scanning of candidate mtDNA gene fragment in diabetic pedigrees. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20 (2003) 181-185
-
(2003)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.20
, pp. 181-185
-
-
Ren, Y.1
Li, X.J.2
Tian, H.M.3
Liang, J.Z.4
Han, L.C.5
Zang, X.X.6
Yu, H.L.7
Yu, Y.R.8
Liu, R.9
Zhao, G.Z.10
Wang, J.N.11
-
33
-
-
0032519307
-
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome
-
Rieder M.J., Taylor S.L., and Tobe V.O. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Research 26 (1998) 967-973
-
(1998)
Nucleic Acids Research
, vol.26
, pp. 967-973
-
-
Rieder, M.J.1
Taylor, S.L.2
Tobe, V.O.3
-
34
-
-
0034955834
-
Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family
-
Rigoli L., Prisco F., Caruso R.A., Iafusco D., Ursomanno G., Zuccarello D., Ingenito N., Rigoli M., and Barberi I. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabetic Medicine 18 (2001) 334-336
-
(2001)
Diabetic Medicine
, vol.18
, pp. 334-336
-
-
Rigoli, L.1
Prisco, F.2
Caruso, R.A.3
Iafusco, D.4
Ursomanno, G.5
Zuccarello, D.6
Ingenito, N.7
Rigoli, M.8
Barberi, I.9
-
36
-
-
0030906910
-
Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation
-
Suzuki Y., Suzuki S., Hinokio Y., Chiba M., Atsumi Y., Hosokawa K., Shimada A., Asahina T., and Matsuoka K. Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation. Diabetes Care 20 (1997) 1138-1140
-
(1997)
Diabetes Care
, vol.20
, pp. 1138-1140
-
-
Suzuki, Y.1
Suzuki, S.2
Hinokio, Y.3
Chiba, M.4
Atsumi, Y.5
Hosokawa, K.6
Shimada, A.7
Asahina, T.8
Matsuoka, K.9
-
38
-
-
29244470251
-
Association of mitochondrial DNA variation with type 2 diabetes mellitus
-
Tang D.L., Zhou X., Zhou K.Y., Li X., Zhao L., Liu F., Zheng F., and Liu S.M. Association of mitochondrial DNA variation with type 2 diabetes mellitus. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22 (2005) 636-640
-
(2005)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.22
, pp. 636-640
-
-
Tang, D.L.1
Zhou, X.2
Zhou, K.Y.3
Li, X.4
Zhao, L.5
Liu, F.6
Zheng, F.7
Liu, S.M.8
-
39
-
-
0026906885
-
(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genetics 5 (1992) 368-371
-
(1992)
Nature Genetics
, vol.5
, pp. 368-371
-
-
Van den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
Sandkuijl, L.A.4
de Vijlder, M.F.5
Struyvenberg, P.A.6
van de Kamp, J.J.7
Maassen, J.A.8
-
40
-
-
0030832950
-
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA
-
Vialettes B., Paquis-Flucklinger V., Pellissier J.F., Bendahan D., Narbonne H., Silvestre-Aillaud P., Montfort M.F., Righini-Chossegros M., Pouget J., Cozzone P.J., and Desnuelle C. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Diabetes Care 20 (1997) 1731-1737
-
(1997)
Diabetes Care
, vol.20
, pp. 1731-1737
-
-
Vialettes, B.1
Paquis-Flucklinger, V.2
Pellissier, J.F.3
Bendahan, D.4
Narbonne, H.5
Silvestre-Aillaud, P.6
Montfort, M.F.7
Righini-Chossegros, M.8
Pouget, J.9
Cozzone, P.J.10
Desnuelle, C.11
-
41
-
-
34548501271
-
Prevalence and progression of diabetes in mitochondrial disease
-
Whittaker R.G., Schaefer A.M., McFarland R., Taylor R.W., Walker M., and Turnbull D.M. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 50 (2007) 2085-2089
-
(2007)
Diabetologia
, vol.50
, pp. 2085-2089
-
-
Whittaker, R.G.1
Schaefer, A.M.2
McFarland, R.3
Taylor, R.W.4
Walker, M.5
Turnbull, D.M.6
|