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Volumn 43, Issue 5, 2010, Pages 325-330

Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

EID: 77957730040     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.05.023     Document Type: Article
Times cited : (7)

References (49)
  • 1
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 126 2003 1905 1912
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 3
    • 1442360024 scopus 로고    scopus 로고
    • Mitochondrial diseases: Not so rare after all
    • DR. Thorburn Mitochondrial diseases: not so rare after all Intern Med J 34 2004 3 5
    • (2004) Intern Med J , vol.34 , pp. 3-5
    • Thorburn, D.R.1
  • 4
    • 0035092240 scopus 로고    scopus 로고
    • The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical and DNA abnormalities
    • N. Darin, A. Oldfors, A.R. Moslemi, E. Holme, and M. Tulinius The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical and DNA abnormalities Ann Neurol 49 2001 377 383
    • (2001) Ann Neurol , vol.49 , pp. 377-383
    • Darin, N.1    Oldfors, A.2    Moslemi, A.R.3    Holme, E.4    Tulinius, M.5
  • 5
    • 34248669576 scopus 로고    scopus 로고
    • Molecular, genetic and clinical aspects of mitochondrial disorders in childhood
    • A.R. Moslemi, and N. Darin Molecular, genetic and clinical aspects of mitochondrial disorders in childhood Mitochondrion 7 2007 241 252
    • (2007) Mitochondrion , vol.7 , pp. 241-252
    • Moslemi, A.R.1    Darin, N.2
  • 6
    • 33847641480 scopus 로고    scopus 로고
    • Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies
    • Y. Qi, Y. Zhang, and Z. Wang Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies Mitochondrion 7 2007 147 150
    • (2007) Mitochondrion , vol.7 , pp. 147-150
    • Qi, Y.1    Zhang, Y.2    Wang, Z.3
  • 7
    • 12544255171 scopus 로고    scopus 로고
    • Mitochondrial muscle pathology
    • K. Patterson Mitochondrial muscle pathology Pediatr Dev Pathol 7 2004 629 632
    • (2004) Pediatr Dev Pathol , vol.7 , pp. 629-632
    • Patterson, K.1
  • 8
    • 33847751892 scopus 로고    scopus 로고
    • Diagnostic challenges of mitochondrial DNA disorders
    • L.J. Wong Diagnostic challenges of mitochondrial DNA disorders Mitochondrion 7 2007 45 52
    • (2007) Mitochondrion , vol.7 , pp. 45-52
    • Wong, L.J.1
  • 9
    • 0035295967 scopus 로고    scopus 로고
    • Diagnosis and treatment of childhood mitochondrial diseases
    • A.L. Gropman Diagnosis and treatment of childhood mitochondrial diseases Curr Neurol Neurosci Rep 1 2001 185 194
    • (2001) Curr Neurol Neurosci Rep , vol.1 , pp. 185-194
    • Gropman, A.L.1
  • 11
    • 41849123439 scopus 로고    scopus 로고
    • Presentation and diagnosis of mitochondrial disorders in children
    • M.K. Koenig Presentation and diagnosis of mitochondrial disorders in children Pediatr Neurol 38 2008 305 313
    • (2008) Pediatr Neurol , vol.38 , pp. 305-313
    • Koenig, M.K.1
  • 12
    • 67349197091 scopus 로고    scopus 로고
    • Identification of novel mutations in five patients with mitochondrial encephalomyopathy
    • L. Valente, D. Piga, and E. Lamantea Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochim Biophys Acta 1787 2009 491 501
    • (2009) Biochim Biophys Acta , vol.1787 , pp. 491-501
    • Valente, L.1    Piga, D.2    Lamantea, E.3
  • 13
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • F. Scaglia, J.A. Towbin, and W.J. Craigen Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics 114 2004 925 931
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scaglia, F.1    Towbin, J.A.2    Craigen, W.J.3
  • 14
    • 9644266773 scopus 로고    scopus 로고
    • Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders
    • D.R. Thorburn, C. Sugiana, and R. Salemi Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders Biochim Biophys Acta 1659 2004 121 128
    • (2004) Biochim Biophys Acta , vol.1659 , pp. 121-128
    • Thorburn, D.R.1    Sugiana, C.2    Salemi, R.3
  • 15
    • 33645644018 scopus 로고    scopus 로고
    • Could it be mitochondrial? When and how to investigate
    • P.F. Chinnery Could it be mitochondrial? When and how to investigate Pract Neurol 6 2006 90 101
    • (2006) Pract Neurol , vol.6 , pp. 90-101
    • Chinnery, P.F.1
  • 17
    • 22544462198 scopus 로고    scopus 로고
    • Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations
    • D. Meierhofer, J.A. Mayr, S. Ebner, W. Sperl, and B. Kofler Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations Mitochondrion 5 2005 282 296
    • (2005) Mitochondrion , vol.5 , pp. 282-296
    • Meierhofer, D.1    Mayr, J.A.2    Ebner, S.3    Sperl, W.4    Kofler, B.5
  • 18
    • 14644402355 scopus 로고    scopus 로고
    • Mitochondrial DNA analysis in clinical laboratory diagnostics
    • L.J. Wong, and R.G. Boles Mitochondrial DNA analysis in clinical laboratory diagnostics Clin Chim Acta 354 2005 1 20
    • (2005) Clin Chim Acta , vol.354 , pp. 1-20
    • Wong, L.J.1    Boles, R.G.2
  • 20
    • 77957725819 scopus 로고
    • Evaluation of respiratory chain defects in muscle mitochondria for different diagnosis of Leigh syndrome [In Polish]
    • E. Karczmarewicz, H. Kulczycka, L. Bielecka, R.S. Lorenc, and E. Pronicka Evaluation of respiratory chain defects in muscle mitochondria for different diagnosis of Leigh syndrome [In Polish] Pediatr Pol 5 1994 311 317
    • (1994) Pediatr Pol , vol.5 , pp. 311-317
    • Karczmarewicz, E.1    Kulczycka, H.2    Bielecka, L.3    Lorenc, R.S.4    Pronicka, E.5
  • 22
    • 0034603787 scopus 로고    scopus 로고
    • Purification, cloning, and characterization of the CEL i nuclease
    • B. Yang, X. Wen, and N.S. Kodali Purification, cloning, and characterization of the CEL I nuclease Biochemistry 39 2000 3533 3541
    • (2000) Biochemistry , vol.39 , pp. 3533-3541
    • Yang, B.1    Wen, X.2    Kodali, N.S.3
  • 24
    • 33644875533 scopus 로고    scopus 로고
    • MtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
    • M. Ingman, and U. Gyllensten mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences Nucleic Acids Res 34 2006 D749 D751
    • (2006) Nucleic Acids Res , vol.34
    • Ingman, M.1    Gyllensten, U.2
  • 25
    • 4944260285 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • M. Zeviani, and S. Di Donato Mitochondrial disorders [Erratum in: Brain 2004;127(Pt 12):2783] Brain 127 2004 2153 2172
    • (2004) Brain , vol.127 , pp. 2153-2172
    • Zeviani, M.1    Di Donato, S.2
  • 26
    • 33947367705 scopus 로고    scopus 로고
    • Mitochondrial diseases: A nosological update
    • M. Filosto, and M. Mancuso Mitochondrial diseases: a nosological update Acta Neurol Scand 115 2007 211 221
    • (2007) Acta Neurol Scand , vol.115 , pp. 211-221
    • Filosto, M.1    Mancuso, M.2
  • 27
    • 33748377123 scopus 로고    scopus 로고
    • Central nervous system manifestations of mitochondrial disorders
    • J. Finsterer Central nervous system manifestations of mitochondrial disorders Acta Neurol Scand 114 2006 217 238
    • (2006) Acta Neurol Scand , vol.114 , pp. 217-238
    • Finsterer, J.1
  • 28
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and Leigh-like syndrome in children and adults
    • J. Finsterer Leigh and Leigh-like syndrome in children and adults Pediatr Neurol 39 2008 223 235
    • (2008) Pediatr Neurol , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 29
    • 0029778849 scopus 로고    scopus 로고
    • Clinical presentation of mitochondrial disorders in childhood
    • A. Munnich, A. Rötig, and D. Chretien Clinical presentation of mitochondrial disorders in childhood J Inherit Metab Dis 19 1996 521 527
    • (1996) J Inherit Metab Dis , vol.19 , pp. 521-527
    • Munnich, A.1    Rötig, A.2    Chretien, D.3
  • 31
    • 67649611179 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy
    • E. Cesaroni, M. Scarpelli, N. Zamponi, G. Polonara, and M. Zeviani Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy Pediatr Neurol 41 2009 131 134
    • (2009) Pediatr Neurol , vol.41 , pp. 131-134
    • Cesaroni, E.1    Scarpelli, M.2    Zamponi, N.3    Polonara, G.4    Zeviani, M.5
  • 32
    • 0033928678 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain defects presenting as nonspecific features in children
    • C.Y. Tsao, J.R. Mendell, W.D. Lo, M. Luquette, and J. Rusin Mitochondrial respiratory-chain defects presenting as nonspecific features in children J Child Neurol 15 2000 445 448
    • (2000) J Child Neurol , vol.15 , pp. 445-448
    • Tsao, C.Y.1    Mendell, J.R.2    Lo, W.D.3    Luquette, M.4    Rusin, J.5
  • 33
    • 0036428316 scopus 로고    scopus 로고
    • Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
    • C.C. Huang, H.C. Kuo, C.C. Chu, C.W. Liou, Y.S. Ma, and Y.H. Wei Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies J Biomed Sci 9 2002 527 533
    • (2002) J Biomed Sci , vol.9 , pp. 527-533
    • Huang, C.C.1    Kuo, H.C.2    Chu, C.C.3    Liou, C.W.4    Ma, Y.S.5    Wei, Y.H.6
  • 37
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes a distinctive clinical syndrome
    • S.G. Pavlakis, P.C. Phillips, S. DiMauro, D.C. De Vivo, and L.P. Rowland Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes a distinctive clinical syndrome Ann Neurol 16 1984 481 488
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    Dimauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 38
    • 0033619147 scopus 로고    scopus 로고
    • Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    • A.L. Andreu, M.G. Hanna, and H. Reichmann Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA N Engl J Med 341 1999 1037 1044
    • (1999) N Engl J Med , vol.341 , pp. 1037-1044
    • Andreu, A.L.1    Hanna, M.G.2    Reichmann, H.3
  • 39
    • 66349098286 scopus 로고    scopus 로고
    • Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations
    • K.G. Werner, C.F. Morel, and A. Kirton Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations Pediatr Neurol 41 2009 27 33
    • (2009) Pediatr Neurol , vol.41 , pp. 27-33
    • Werner, K.G.1    Morel, C.F.2    Kirton, A.3
  • 40
    • 0036839776 scopus 로고    scopus 로고
    • Comprehensive scanning of the entire mitochondrial genome for mutations
    • L.J. Wong, M.H. Liang, H. Kwon, J. Park, R.K. Bai, and D.J. Tan Comprehensive scanning of the entire mitochondrial genome for mutations Clin Chem 48 2002 1901 1912
    • (2002) Clin Chem , vol.48 , pp. 1901-1912
    • Wong, L.J.1    Liang, M.H.2    Kwon, H.3    Park, J.4    Bai, R.K.5    Tan, D.J.6
  • 41
    • 0242522947 scopus 로고    scopus 로고
    • Techniques and pitfalls in the detection of pathogenic mitochondrial mutations
    • C.T. Moraes, D.P. Atencio, J. Oca-Cossio, and F. Diaz Techniques and pitfalls in the detection of pathogenic mitochondrial mutations J Mol Diagn 5 2003 197 208
    • (2003) J Mol Diagn , vol.5 , pp. 197-208
    • Moraes, C.T.1    Atencio, D.P.2    Oca-Cossio, J.3    Diaz, F.4
  • 42
    • 20344384545 scopus 로고    scopus 로고
    • Surveyor nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects
    • S. Bannwarth, V. Procaccio, and V. Paquis-Flucklinger Surveyor nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects Hum Mutat 25 2005 575 582
    • (2005) Hum Mutat , vol.25 , pp. 575-582
    • Bannwarth, S.1    Procaccio, V.2    Paquis-Flucklinger, V.3
  • 43
    • 34248647282 scopus 로고    scopus 로고
    • Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor nuclease
    • S. Bannwarth, V. Procaccio, and V. Paquis-Flucklinger Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor nuclease Nat Protoc 1 2006 2037 2047
    • (2006) Nat Protoc , vol.1 , pp. 2037-2047
    • Bannwarth, S.1    Procaccio, V.2    Paquis-Flucklinger, V.3
  • 44
    • 40149097942 scopus 로고    scopus 로고
    • Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using Surveyor strategy
    • S. Bannwarth, V. Procaccio, and C. Rouzier Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using Surveyor strategy Mitochondrion 8 2008 136 145
    • (2008) Mitochondrion , vol.8 , pp. 136-145
    • Bannwarth, S.1    Procaccio, V.2    Rouzier, C.3
  • 45
    • 7444244924 scopus 로고    scopus 로고
    • Assigning pathogenicity to mitochondrial tRNA mutations: When 'definitely maybe' is not good enough
    • R. McFarland, J.L. Elson, R.W. Taylor, N. Howell, and D.M. Turnbull Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough Trends Genet 20 2004 591 596
    • (2004) Trends Genet , vol.20 , pp. 591-596
    • McFarland, R.1    Elson, J.L.2    Taylor, R.W.3    Howell, N.4    Turnbull, D.M.5
  • 46
    • 32944470243 scopus 로고    scopus 로고
    • Sequence variation in mitochondrial complex i genes: Mutation or polymorphism?
    • A.L. Mitchell, J.L. Elson, N. Howell, R.W. Taylor, and D.M. Turnbull Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J Med Genet 43 2006 175 179
    • (2006) J Med Genet , vol.43 , pp. 175-179
    • Mitchell, A.L.1    Elson, J.L.2    Howell, N.3    Taylor, R.W.4    Turnbull, D.M.5
  • 47
    • 33748087125 scopus 로고    scopus 로고
    • Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics
    • A.A. Kazuno, K. Munakata, and T. Nagai Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics PLoS Genet 2 2006 1167 1177 e128
    • (2006) PLoS Genet , vol.2 , pp. 1167-1177
    • Kazuno, A.A.1    Munakata, K.2    Nagai, T.3
  • 48
    • 13344294291 scopus 로고    scopus 로고
    • Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity
    • L.J. Guo, Y. Oshida, and N. Fuku Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity Mitochondrion 5 2005 15 33
    • (2005) Mitochondrion , vol.5 , pp. 15-33
    • Guo, L.J.1    Oshida, Y.2    Fuku, N.3
  • 49
    • 13544272017 scopus 로고    scopus 로고
    • A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects
    • A.K. Niemi, J.S. Moilanen, and M. Tanaka A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects Eur J Hum Genet 13 2005 166 170
    • (2005) Eur J Hum Genet , vol.13 , pp. 166-170
    • Niemi, A.K.1    Moilanen, J.S.2    Tanaka, M.3


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