BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 26874653)

  • 1. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
    Vilarinho S; Sari S; Yilmaz G; Stiegler AL; Boggon TJ; Jain D; Akyol G; Dalgic B; Günel M; Lifton RP
    Hepatology; 2016 Jun; 63(6):1977-86. PubMed ID: 26874653
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
    Brahimi N; Jambou M; Sarzi E; Serre V; Boddaert N; Romano S; de Lonlay P; Slama A; Munnich A; Rötig A; Bonnefont JP; Lebre AS
    Mol Genet Metab; 2009 Jul; 97(3):221-6. PubMed ID: 19394258
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Risk factors and outcome of HIV-associated idiopathic noncirrhotic portal hypertension.
    Schouten JN; Van der Ende ME; Koëter T; Rossing HH; Komuta M; Verheij J; van der Valk M; Hansen BE; Janssen HL
    Aliment Pharmacol Ther; 2012 Nov; 36(9):875-85. PubMed ID: 22971050
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.
    Besmond C; Valla D; Hubert L; Poirier K; Grosse B; Guettier C; Bernard O; Gonzales E; Jacquemin E
    Liver Int; 2018 Feb; 38(2):358-364. PubMed ID: 28792652
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
    Pronicka E; Węglewska-Jurkiewicz A; Taybert J; Pronicki M; Szymańska-Dębińska T; Karkucińska-Więckowska A; Jakóbkiewicz-Banecka J; Kowalski P; Piekutowska-Abramczuk D; Pajdowska M; Socha P; Sykut-Cegielska J; Węgrzyn G
    J Appl Genet; 2011 Feb; 52(1):61-6. PubMed ID: 21107780
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
    Vilarinho S; Choi M; Jain D; Malhotra A; Kulkarni S; Pashankar D; Phatak U; Patel M; Bale A; Mane S; Lifton RP; Mistry PK
    J Hepatol; 2014 Nov; 61(5):1056-63. PubMed ID: 25016221
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
    Dimmock DP; Zhang Q; Dionisi-Vici C; Carrozzo R; Shieh J; Tang LY; Truong C; Schmitt E; Sifry-Platt M; Lucioli S; Santorelli FM; Ficicioglu CH; Rodriguez M; Wierenga K; Enns GM; Longo N; Lipson MH; Vallance H; Craigen WJ; Scaglia F; Wong LJ
    Hum Mutat; 2008 Feb; 29(2):330-1. PubMed ID: 18205204
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
    Taanman JW; Kateeb I; Muntau AC; Jaksch M; Cohen N; Mandel H
    Ann Neurol; 2002 Aug; 52(2):237-9. PubMed ID: 12210798
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.
    Koot BG; Alders M; Verheij J; Beuers U; Cobben JM
    J Hepatol; 2016 Apr; 64(4):974-7. PubMed ID: 26658685
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
    Mousson de Camaret B; Taanman JW; Padet S; Chassagne M; Mayençon M; Clerc-Renaud P; Mandon G; Zabot MT; Lachaux A; Bozon D
    Biochem J; 2007 Mar; 402(2):377-85. PubMed ID: 17073823
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
    Mandel H; Szargel R; Labay V; Elpeleg O; Saada A; Shalata A; Anbinder Y; Berkowitz D; Hartman C; Barak M; Eriksson S; Cohen N
    Nat Genet; 2001 Nov; 29(3):337-41. PubMed ID: 11687800
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Role of the transjugular intrahepatic portosystemic shunt in the management of severe complications of portal hypertension in idiopathic noncirrhotic portal hypertension.
    Bissonnette J; Garcia-Pagán JC; Albillos A; Turon F; Ferreira C; Tellez L; Nault JC; Carbonell N; Cervoni JP; Abdel Rehim M; Sibert A; Bouchard L; Perreault P; Trebicka J; Trottier-Tellier F; Rautou PE; Valla DC; Plessier A
    Hepatology; 2016 Jul; 64(1):224-31. PubMed ID: 26990687
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Idiopathic noncirrhotic portal hypertension in dogs: 33 cases (1982-1998).
    Bunch SE; Johnson SE; Cullen JM
    J Am Vet Med Assoc; 2001 Feb; 218(3):392-9. PubMed ID: 11201566
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings.
    Warasnhe K; Özçay F; Aydin Hİ; Özgün G; Ceylaner S
    Clin Res Hepatol Gastroenterol; 2022 Oct; 46(8):101928. PubMed ID: 35460901
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evolving Understanding of Noncirrhotic Portal Hypertension.
    Isidro RA; Zhao L
    Surg Pathol Clin; 2023 Sep; 16(3):549-563. PubMed ID: 37536888
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Idiopathic noncirrhotic portal hypertension.
    Fiel MI; Schiano TD
    Semin Diagn Pathol; 2019 Nov; 36(6):395-403. PubMed ID: 31405536
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
    Ji JQ; Dimmock D; Tang LY; Descartes M; Gomez R; Rutledge SL; Schmitt ES; Wong LJ
    Mitochondrion; 2010 Mar; 10(2):188-91. PubMed ID: 19900589
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
    Freisinger P; Fütterer N; Lankes E; Gempel K; Berger TM; Spalinger J; Hoerbe A; Schwantes C; Lindner M; Santer R; Burdelski M; Schaefer H; Setzer B; Walker UA; Horváth R
    Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
    Buchaklian AH; Helbling D; Ware SM; Dimmock DP
    Mol Genet Metab; 2012 Sep; 107(1-2):92-4. PubMed ID: 22622127
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.