BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

97 related articles for article (PubMed ID: 28247525)

  • 1. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
    Baertling F; Al-Murshedi F; Sánchez-Caballero L; Al-Senaidi K; Joshi NP; Venselaar H; van den Brand MA; Nijtmans LG; Rodenburg RJ
    Hum Mutat; 2017 Jun; 38(6):692-703. PubMed ID: 28247525
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
    Torraco A; Morlino S; Rizza T; Di Nottia M; Bottaro G; Bisceglia L; Montanari A; Cappa M; Castori M; Bertini E; Carrozzo R
    Clin Genet; 2022 Jul; 102(1):56-60. PubMed ID: 35246835
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
    Kovářová N; Cížková Vrbacká A; Pecina P; Stránecký V; Pronicka E; Kmoch S; Houštěk J
    Biochim Biophys Acta; 2012 Jul; 1822(7):1114-24. PubMed ID: 22465034
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
    Baertling F; A M van den Brand M; Hertecant JL; Al-Shamsi A; P van den Heuvel L; Distelmaier F; Mayatepek E; Smeitink JA; Nijtmans LG; Rodenburg RJ
    Hum Mutat; 2015 Jan; 36(1):34-8. PubMed ID: 25339201
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
    Williams SL; Valnot I; Rustin P; Taanman JW
    J Biol Chem; 2004 Feb; 279(9):7462-9. PubMed ID: 14607829
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Szklarczyk R; Wanschers BF; Nijtmans LG; Rodenburg RJ; Zschocke J; Dikow N; van den Brand MA; Hendriks-Franssen MG; Gilissen C; Veltman JA; Nooteboom M; Koopman WJ; Willems PH; Smeitink JA; Huynen MA; van den Heuvel LP
    Hum Mol Genet; 2013 Feb; 22(4):656-67. PubMed ID: 23125284
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
    Stiburek L; Vesela K; Hansikova H; Pecina P; Tesarova M; Cerna L; Houstek J; Zeman J
    Biochem J; 2005 Dec; 392(Pt 3):625-32. PubMed ID: 16083427
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
    Menezes MJ; Guo Y; Zhang J; Riley LG; Cooper ST; Thorburn DR; Li J; Dong D; Li Z; Glessner J; Davis RL; Sue CM; Alexander SI; Arbuckle S; Kirwan P; Keating BJ; Xu X; Hakonarson H; Christodoulou J
    Hum Mol Genet; 2015 Apr; 24(8):2297-307. PubMed ID: 25556185
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
    Wintjes LTM; Kava M; van den Brandt FA; van den Brand MAM; Lapina O; Bliksrud YT; Kulseth MA; Amundsen SS; Selberg TR; Ybema-Antoine M; Tutakhel OAZ; Greed L; Thorburn DR; Tangeraas T; Balasubramaniam S; Rodenburg RJT
    Hum Mutat; 2021 Feb; 42(2):135-141. PubMed ID: 33169484
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A
    Bourens M; Barrientos A
    EMBO Rep; 2017 Mar; 18(3):477-494. PubMed ID: 28082314
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.
    Fornuskova D; Stiburek L; Wenchich L; Vinsova K; Hansikova H; Zeman J
    Biochem J; 2010 May; 428(3):363-74. PubMed ID: 20307258
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
    Chin HL; Goh DL; Wang FS; Tay SKH; Heng CK; Donnini C; Baruffini E; Pines O
    J Mol Med (Berl); 2019 Nov; 97(11):1557-1566. PubMed ID: 31529142
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A SURF1 gene mutation presenting as isolated leukodystrophy.
    Rahman S; Brown RM; Chong WK; Wilson CJ; Brown GK
    Ann Neurol; 2001 Jun; 49(6):797-800. PubMed ID: 11409433
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
    Weraarpachai W; Sasarman F; Nishimura T; Antonicka H; Auré K; Rötig A; Lombès A; Shoubridge EA
    Am J Hum Genet; 2012 Jan; 90(1):142-51. PubMed ID: 22243966
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.
    Procaccio V; Mousson B; Beugnot R; Duborjal H; Feillet F; Putet G; Pignot-Paintrand I; Lombès A; De Coo R; Smeets H; Lunardi J; Issartel JP
    J Clin Invest; 1999 Jul; 104(1):83-92. PubMed ID: 10393702
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
    Huigsloot M; Nijtmans LG; Szklarczyk R; Baars MJ; van den Brand MA; Hendriksfranssen MG; van den Heuvel LP; Smeitink JA; Huynen MA; Rodenburg RJ
    Am J Hum Genet; 2011 Apr; 88(4):488-93. PubMed ID: 21457908
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
    Hallmann K; Kudin AP; Zsurka G; Kornblum C; Reimann J; Stüve B; Waltz S; Hattingen E; Thiele H; Nürnberg P; Rüb C; Voos W; Kopatz J; Neumann H; Kunz WS
    Brain; 2016 Feb; 139(Pt 2):338-45. PubMed ID: 26685157
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.
    Lutz R; Garnica A; Shires A; Freneaux E; De Vivo D; Neuhoff P; Rhead WJ
    Neurology; 1991 Dec; 41(12):1957-60. PubMed ID: 1660571
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal recessive lethal infantile cytochrome C oxidase deficiency.
    Eshel G; Lahat E; Fried K; Barr J; Barash V; Gutman A; DiMauro S; Aladjem M
    Am J Dis Child; 1991 Jun; 145(6):661-4. PubMed ID: 1852096
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.