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Volumn 5, Issue 4, 2009, Pages

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

ASSOCIATION REACTIONS; DIAGNOSIS; GENE ONTOLOGY; MITOCHONDRIA;

EID: 66249136027     PISSN: 1553734X     EISSN: 15537358     Source Type: Journal    
DOI: 10.1371/journal.pcbi.1000374     Document Type: Article
Times cited : (68)

References (52)
  • 1
    • 0028558576 scopus 로고
    • The development of mitochondrial medicine
    • Luft R (1994) The development of mitochondrial medicine. Proc Natl Acad Sci U S A 91: 8731-8738.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8731-8738
    • Luft, R.1
  • 2
    • 0031804542 scopus 로고    scopus 로고
    • Nuclear power and mitochondrial disease
    • DiMauro S, Schon EA (1998) Nuclear power and mitochondrial disease. Nature Genetics 19: 214-215.
    • (1998) Nature Genetics , vol.19 , pp. 214-215
    • DiMauro, S.1    Schon, E.A.2
  • 3
    • 23844558266 scopus 로고    scopus 로고
    • A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
    • Wallace DC (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
  • 5
    • 33644876911 scopus 로고    scopus 로고
    • Prokisch H, A ndreoli C, A hting U, H eiss K, R uepp A, e t al. (2006) MitoP2: the mitochondrial proteome database-now including mouse data. Nucleic Acids Res 34: D705-711.
    • Prokisch H, A ndreoli C, A hting U, H eiss K, R uepp A, e t al. (2006) MitoP2: the mitochondrial proteome database-now including mouse data. Nucleic Acids Res 34: D705-711.
  • 6
    • 0034956801 scopus 로고    scopus 로고
    • Epidemiology and treatment of mitochon- drial disorders
    • Chinnery PF, T urnbull DM (2001) Epidemiology and treatment of mitochon- drial disorders. Am J Med Genet 106: 94-101.
    • (2001) Am J Med Genet , vol.106 , pp. 94-101
    • Chinnery, P.F.1    urnbull DM, T.2
  • 7
    • 0035092240 scopus 로고    scopus 로고
    • Darin N, O ldfors A, M oslemi AR, H olme E, T ulinius M (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and mor- phological, b iochemical, a nd DNA anbormalities. Ann Neurol 49: 377-383.
    • Darin N, O ldfors A, M oslemi AR, H olme E, T ulinius M (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and mor- phological, b iochemical, a nd DNA anbormalities. Ann Neurol 49: 377-383.
  • 8
    • 0042266280 scopus 로고    scopus 로고
    • Skladal D, H alliday J, T horburn DR (2003) Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126: 1905-1912.
    • Skladal D, H alliday J, T horburn DR (2003) Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126: 1905-1912.
  • 9
    • 0142121353 scopus 로고    scopus 로고
    • The contribution of mitochondria to common disorders
    • Enns GM (2003) The contribution of mitochondria to common disorders. Mol Genet Metab 80: 11-26.
    • (2003) Mol Genet Metab , vol.80 , pp. 11-26
    • Enns, G.M.1
  • 10
    • 0242363670 scopus 로고    scopus 로고
    • Molecular pathways of neurodegeneration in Parkinson's disease
    • Dawson TM, D awson VL (2003) Molecular pathways of neurodegeneration in Parkinson's disease. Science 302: 819-822.
    • (2003) Science , vol.302 , pp. 819-822
    • Dawson, T.M.1    awson VL, D.2
  • 11
    • 51749113618 scopus 로고    scopus 로고
    • Rosca MG, V azquez EJ, K erner J, P arland W, C handler MP, e t al. (2008) Cardiac mitochondria in heart failure: decrease in respirasomes and oxidative phosphorylation. Cardiovasc Res 80: 30-39.
    • Rosca MG, V azquez EJ, K erner J, P arland W, C handler MP, e t al. (2008) Cardiac mitochondria in heart failure: decrease in respirasomes and oxidative phosphorylation. Cardiovasc Res 80: 30-39.
  • 12
    • 12344305124 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and type 2 diabetes
    • Lowell BB, S hulman GI (2005) Mitochondrial dysfunction and type 2 diabetes. Science 307: 384-387.
    • (2005) Science , vol.307 , pp. 384-387
    • Lowell, B.B.1    hulman GI, S.2
  • 13
    • 1442340729 scopus 로고    scopus 로고
    • Delsite R, K achhap S, A nbazhagan R, G abrielson E, S ingh KK (2002) Nuclear genes involved in mitochondria-to-nucleus communication in breast cancer cells. Mol Cancer 1: 6.
    • Delsite R, K achhap S, A nbazhagan R, G abrielson E, S ingh KK (2002) Nuclear genes involved in mitochondria-to-nucleus communication in breast cancer cells. Mol Cancer 1: 6.
  • 14
    • 0037364314 scopus 로고    scopus 로고
    • Eng C, K iuru M, F ernandez MJ, A altonen LA (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3: 193-202.
    • Eng C, K iuru M, F ernandez MJ, A altonen LA (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3: 193-202.
  • 15
    • 0038670579 scopus 로고    scopus 로고
    • Freimer N, S abatti C (2003) The human phenome project. Nat Genet 34: 15-21.
    • Freimer N, S abatti C (2003) The human phenome project. Nat Genet 34: 15-21.
  • 16
    • 3042841887 scopus 로고    scopus 로고
    • Brunner HG, v an Driel MA (2004) From syndrome families to functional genomics. Nat Rev Genet 5: 545-551.
    • Brunner HG, v an Driel MA (2004) From syndrome families to functional genomics. Nat Rev Genet 5: 545-551.
  • 17
    • 25144476377 scopus 로고    scopus 로고
    • Mapping phenotypes to language: A proposal to organize and standardize the clinical descriptions of malformations
    • Biesecker LG (2005) Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations. Clin Genet 68: 320-326.
    • (2005) Clin Genet , vol.68 , pp. 320-326
    • Biesecker, L.G.1
  • 18
    • 66249101826 scopus 로고    scopus 로고
    • Mitochondrial Disease Phenotypes PLoS Computational Biology | www.ploscompbiol.org 12 April 2009 | 5 | Issue 4 | e1000374
    • Mitochondrial Disease Phenotypes PLoS Computational Biology | www.ploscompbiol.org 12 April 2009 | Volume 5 | Issue 4 | e1000374
  • 19
    • 0037248598 scopus 로고    scopus 로고
    • The challenges of recording phenotype in a generalizable and computable form
    • Nadkarni PM (2003) The challenges of recording phenotype in a generalizable and computable form. Pharmacogenomics J 3: 8-10.
    • (2003) Pharmacogenomics J , vol.3 , pp. 8-10
    • Nadkarni, P.M.1
  • 20
    • 33646058032 scopus 로고    scopus 로고
    • van Driel MA, B ruggeman J, V riend G, B runner HG, L eunissen JA (2006) A text-mining analysis of the human phenome. Eur J Hum Genet 14: 535-542.
    • van Driel MA, B ruggeman J, V riend G, B runner HG, L eunissen JA (2006) A text-mining analysis of the human phenome. Eur J Hum Genet 14: 535-542.
  • 21
    • 20944438074 scopus 로고    scopus 로고
    • Phenome' project set to pin down subgroups of autism
    • Singer E (2005) ««Phenome'» project set to pin down subgroups of autism. Nat Md 11: 583.
    • (2005) Nat Md , vol.11 , pp. 583
    • Singer, E.1
  • 22
    • 34548089960 scopus 로고    scopus 로고
    • Potash JB, T oolan J, S teele J, M iller EB, P earl J, e t al. (2007) The bipolar disorder phenome database: a resource for genetic studies. Am J Psychiatry 164: 1229-1237.
    • Potash JB, T oolan J, S teele J, M iller EB, P earl J, e t al. (2007) The bipolar disorder phenome database: a resource for genetic studies. Am J Psychiatry 164: 1229-1237.
  • 23
    • 40849145702 scopus 로고    scopus 로고
    • Sabb FW, B earden CE, G lahn DC, P arker DS, F reimer N, e t al. (2008) A collaborative knowledge base for cognitive phenomics. Mol Psychiatry 13: 350-360.
    • Sabb FW, B earden CE, G lahn DC, P arker DS, F reimer N, e t al. (2008) A collaborative knowledge base for cognitive phenomics. Mol Psychiatry 13: 350-360.
  • 24
    • 27144509163 scopus 로고    scopus 로고
    • Calvano SE, X iao W, R ichards DR, F elciano RM, B aker HV, e t al. (2005) A network-based analysis of systemic inflammation in humans. Nature 437: 1032-1037.
    • Calvano SE, X iao W, R ichards DR, F elciano RM, B aker HV, e t al. (2005) A network-based analysis of systemic inflammation in humans. Nature 437: 1032-1037.
  • 25
    • 38549137931 scopus 로고    scopus 로고
    • Hernandez-Boussard T, W hirl-Carrillo M, H ebert JM, G ong L, O wen R, e t al. (2008) The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge. Nucleic Acids Res 36: D913-918.
    • Hernandez-Boussard T, W hirl-Carrillo M, H ebert JM, G ong L, O wen R, e t al. (2008) The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge. Nucleic Acids Res 36: D913-918.
  • 26
    • 33846390427 scopus 로고    scopus 로고
    • Building the power house: Recent advances in mitochondrial studies through proteomics and systems biology
    • Vo TD, P alsson BO (2007) Building the power house: recent advances in mitochondrial studies through proteomics and systems biology. Am J Physiol Cell Physiol 292: C164-177.
    • (2007) Am J Physiol Cell Physiol , vol.292
    • Vo, T.D.1    alsson BO, P.2
  • 27
    • 13444266370 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    • Database Issue: D514-517
    • Hamosh A, S cott AF, A mberger JS, B occhini CA, M cKusick VA (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33 Database Issue: D514-517.
    • (2005) Nucleic Acids Res , vol.33
    • Hamosh, A.1    cott AF, S.2    mberger JS, A.3    occhini CA, B.4    cKusick VA, M.5
  • 29
    • 0014985404 scopus 로고
    • Metabolic rate and organ size during growth from infancy to maturity and during late gastation and early infancy
    • Holliday MA (1971) Metabolic rate and organ size during growth from infancy to maturity and during late gastation and early infancy. Pediatrics 47: Suppl 2: 169 +.
    • (1971) Pediatrics , vol.47 , Issue.SUPPL. 2 , pp. 169
    • Holliday, M.A.1
  • 30
    • 33845329526 scopus 로고    scopus 로고
    • Benard G, F austin B, P asserieux E, G alinier A, R ocher C, e t al. (2006) Physiological diversity of mitochondrial oxidative phosphorylation. Am J Physiol Cell Physiol 291: C1172-1182.
    • Benard G, F austin B, P asserieux E, G alinier A, R ocher C, e t al. (2006) Physiological diversity of mitochondrial oxidative phosphorylation. Am J Physiol Cell Physiol 291: C1172-1182.
  • 31
    • 33847181678 scopus 로고    scopus 로고
    • Storey JD, M adeoy J, S trout JL, W urfel M, R onald J, e t al. (2007) Gene- expression variation within and among human populations. Am J Hum Genet 80: 502-509.
    • Storey JD, M adeoy J, S trout JL, W urfel M, R onald J, e t al. (2007) Gene- expression variation within and among human populations. Am J Hum Genet 80: 502-509.
  • 32
    • 30544439504 scopus 로고    scopus 로고
    • Creation and implications of a phenome-genome network
    • Butte AJ, K ohane IS (2006) Creation and implications of a phenome-genome network. Nat Biotechnol 24: 55-62.
    • (2006) Nat Biotechnol , vol.24 , pp. 55-62
    • Butte, A.J.1    ohane IS, K.2
  • 33
    • 33947095027 scopus 로고    scopus 로고
    • A human phenome-interactome network of protein complexes implicated in genetic disorders
    • Lage K, K arlberg EO, S torling ZM, O lason PI, P edersen AG, e t al. (2007) A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 25: 309-316.
    • (2007) Nat Biotechnol , vol.25 , pp. 309-316
    • Lage, K.1    arlberg EO, K.2    torling ZM, S.3    lason PI, O.4    edersen AG, P.5    e t al6
  • 34
    • 34547140875 scopus 로고    scopus 로고
    • Goh KI, C usick ME, V alle D, C hilds B, V idal M, e t al. (2007) The human disease network. Proc Natl Acad Sci U S A 104: 8685-8690.
    • Goh KI, C usick ME, V alle D, C hilds B, V idal M, e t al. (2007) The human disease network. Proc Natl Acad Sci U S A 104: 8685-8690.
  • 35
    • 33646884801 scopus 로고    scopus 로고
    • Franke L, B akel H, F okkens L, d e Jong ED, E gmont-Petersen M, e t al. (2006) Reconstruction of a functional human gene network, w ith an application for prioritizing positional candidate genes. Am J Hum Genet 78: 1011-1025.
    • Franke L, B akel H, F okkens L, d e Jong ED, E gmont-Petersen M, e t al. (2006) Reconstruction of a functional human gene network, w ith an application for prioritizing positional candidate genes. Am J Hum Genet 78: 1011-1025.
  • 36
    • 48249103483 scopus 로고    scopus 로고
    • Braun P, R ietman E, V idal M (2008) Networking metabolites and diseases. Proc Natl Acad Sci U S A 105: 9849-9850.
    • Braun P, R ietman E, V idal M (2008) Networking metabolites and diseases. Proc Natl Acad Sci U S A 105: 9849-9850.
  • 37
    • 33646362551 scopus 로고    scopus 로고
    • Calvo S, J ain M, X ie X, S heth SA, C hang B, e t al. (2006) Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 38: 576-582.
    • Calvo S, J ain M, X ie X, S heth SA, C hang B, e t al. (2006) Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 38: 576-582.
  • 38
    • 0037173615 scopus 로고    scopus 로고
    • Giaever G, C hu AM, N i L, C onnelly C, R iles L, e t al. (2002) Functional profiling of the Saccharomyces cerevisiae genome. Nature 418: 387-391.
    • Giaever G, C hu AM, N i L, C onnelly C, R iles L, e t al. (2002) Functional profiling of the Saccharomyces cerevisiae genome. Nature 418: 387-391.
  • 39
    • 0032470811 scopus 로고    scopus 로고
    • Tiranti V, H oertnagel K, C arrozzo R, G alimberti C, M unaro M, e t al. (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63: 1609-1621.
    • Tiranti V, H oertnagel K, C arrozzo R, G alimberti C, M unaro M, e t al. (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63: 1609-1621.
  • 40
    • 0036699060 scopus 로고    scopus 로고
    • Steinmetz LM, S charfe C, D eutschbauer AM, M okranjac D, H erman ZS, e t al. (2002) Systematic screen for human disease genes in yeast. Nat Genet 31: 400-404.
    • Steinmetz LM, S charfe C, D eutschbauer AM, M okranjac D, H erman ZS, e t al. (2002) Systematic screen for human disease genes in yeast. Nat Genet 31: 400-404.
  • 41
    • 0037458031 scopus 로고    scopus 로고
    • Mootha VK, L epage P, M iller K, B unkenborg J, R eich M, e t al. (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A 100: 605-610.
    • Mootha VK, L epage P, M iller K, B unkenborg J, R eich M, e t al. (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A 100: 605-610.
  • 42
    • 18944390365 scopus 로고    scopus 로고
    • Elpeleg O, M iller C, H ershkovitz E, B itner-Glindzicz M, B ondi-Rubinstein G, e t al. (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76: 1081-1086.
    • Elpeleg O, M iller C, H ershkovitz E, B itner-Glindzicz M, B ondi-Rubinstein G, e t al. (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76: 1081-1086.
  • 43
    • 33646376465 scopus 로고    scopus 로고
    • Spinazzola A, V iscomi C, F ernandez-Vizarra E, C arrara F, D 'Adamo P, et al. (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38: 570-575.
    • Spinazzola A, V iscomi C, F ernandez-Vizarra E, C arrara F, D 'Adamo P, et al. (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38: 570-575.
  • 44
    • 66249116847 scopus 로고    scopus 로고
    • JMP Version 7. Cary, N C: SAS Institute Inc, 1989-2007
    • JMP Version 7. Cary, N C: SAS Institute Inc., 1989-2007.
  • 45
    • 66249094378 scopus 로고    scopus 로고
    • remco/weka-bn/WEKA Bayesian Network Classifier
    • http://www.cs.waikato.ac.nz/,remco/weka-bn/WEKA Bayesian Network Classifier.
  • 46
    • 66249130222 scopus 로고    scopus 로고
    • Witten IH, F rank E (2005) Data mining: practical machine learning tools and techniques. Amsterdam; Boston, M A: Morgan Kaufman. pp xxxi, 525.
    • Witten IH, F rank E (2005) Data mining: practical machine learning tools and techniques. Amsterdam; Boston, M A: Morgan Kaufman. pp xxxi, 525.
  • 47
    • 41949118715 scopus 로고    scopus 로고
    • Feldman I, R zhetsky A, V itkup D (2008) Network properties of genes harboring inherited disease mutations. Proc Natl Acad Sci U S A 105: 4323-4328.
    • Feldman I, R zhetsky A, V itkup D (2008) Network properties of genes harboring inherited disease mutations. Proc Natl Acad Sci U S A 105: 4323-4328.
  • 48
    • 16644368723 scopus 로고    scopus 로고
    • Prokisch H, S charfe C, C amp DG 2nd, X iao W, D avid L, e t al. (2004) Integrative analysis of the mitochondrial proteome in yeast. PLoS Biol 2: e160. doi:10.1371/journal.pbio.0020160.
    • Prokisch H, S charfe C, C amp DG 2nd, X iao W, D avid L, e t al. (2004) Integrative analysis of the mitochondrial proteome in yeast. PLoS Biol 2: e160. doi:10.1371/journal.pbio.0020160.
  • 49
    • 0036232067 scopus 로고    scopus 로고
    • Ensenauer R, N iederhoff H, R uiter JP, W anders RJ, S chwab KO, e t al. (2002) Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficien- cy. Ann Neurol 51: 656-659.
    • Ensenauer R, N iederhoff H, R uiter JP, W anders RJ, S chwab KO, e t al. (2002) Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficien- cy. Ann Neurol 51: 656-659.
  • 50
    • 0345830473 scopus 로고    scopus 로고
    • Sass JO, F orstner R, S perl W (2004) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain Dev 26: 12-14.
    • Sass JO, F orstner R, S perl W (2004) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain Dev 26: 12-14.
  • 51
    • 24344497374 scopus 로고    scopus 로고
    • Perez-Cerda C, G arcia-Villoria J, O fman R, S ala PR, M erinero B, e t al. (2005) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X- linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res 58: 488-491.
    • Perez-Cerda C, G arcia-Villoria J, O fman R, S ala PR, M erinero B, e t al. (2005) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X- linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res 58: 488-491.
  • 52
    • 33646687963 scopus 로고    scopus 로고
    • Lim J, H ao T, S haw C, P atel AJ, S zabo G, e t al. (2006) A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125: 801-814.
    • Lim J, H ao T, S haw C, P atel AJ, S zabo G, e t al. (2006) A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125: 801-814.


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