These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 23135609)

  • 1. Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.
    D'Aco KE; Manno M; Clarke C; Ganesh J; Meyers KE; Sondheimer N
    Pediatr Nephrol; 2013 Mar; 28(3):515-9. PubMed ID: 23135609
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial disease--an important cause of end-stage renal failure.
    Rahman S; Hall AM
    Pediatr Nephrol; 2013 Mar; 28(3):357-61. PubMed ID: 23233040
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.
    Horváth R; Bender A; Abicht A; Holinski-Feder E; Czermin B; Trips T; Schneiderat P; Lochmüller H; Klopstock T
    J Neurol; 2009 May; 256(5):810-5. PubMed ID: 19252805
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
    Elo JM; Yadavalli SS; Euro L; Isohanni P; Götz A; Carroll CJ; Valanne L; Alkuraya FS; Uusimaa J; Paetau A; Caruso EM; Pihko H; Ibba M; Tyynismaa H; Suomalainen A
    Hum Mol Genet; 2012 Oct; 21(20):4521-9. PubMed ID: 22833457
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.
    Arzuffi P; Lamperti C; Fernandez-Vizarra E; Tonin P; Morandi L; Zeviani M
    Neuromuscul Disord; 2012 Jan; 22(1):50-5. PubMed ID: 22227277
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
    Möllers M; Maniura-Weber K; Kiseljakovic E; Bust M; Hayrapetyan A; Jaksch M; Helm M; Wiesner RJ; von Kleist-Retzow JC
    Nucleic Acids Res; 2005; 33(17):5647-58. PubMed ID: 16199753
    [TBL] [Abstract][Full Text] [Related]  

  • 8. RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.
    Broenen E; Ranchin B; Besmond C; Freychet C; Fouilhoux A; Perouse de Montclos T; Ville D; Bacchetta J
    Arch Pediatr; 2019 Sep; 26(6):377-380. PubMed ID: 31506229
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
    Ballhausen D; Guerry F; Hahn D; Schaller A; Nuoffer JM; Bonafé L; Jeannet PY; Jacquemont S
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S219-26. PubMed ID: 20458543
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
    Ueki I; Koga Y; Povalko N; Akita Y; Nishioka J; Yatsuga S; Fukiyama R; Matsuishi T
    Mitochondrion; 2006 Feb; 6(1):29-36. PubMed ID: 16337222
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
    Darin N; Kollberg G; Moslemi AR; Tulinius M; Holme E; Grönlund MA; Andersson S; Oldfors A
    Neuromuscul Disord; 2006 Aug; 16(8):504-6. PubMed ID: 16806928
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
    Mayr JA; Moslemi AR; Förster H; Kamper A; Idriceanu C; Muss W; Huemer M; Oldfors A; Sperl W
    Neuromuscul Disord; 2006 Dec; 16(12):874-7. PubMed ID: 17056256
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.
    Roper T; Harber M; Jones G; Pitceathly RDS; Salama AD
    BMC Nephrol; 2020 Aug; 21(1):361. PubMed ID: 32838736
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
    Gupta A; Colmenero I; Ragge NK; Blakely EL; He L; McFarland R; Taylor RW; Vogt J; Milford DV
    BMC Res Notes; 2016 Jun; 9():325. PubMed ID: 27350610
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.
    Guéry B; Choukroun G; Noël LH; Clavel P; Rötig A; Lebon S; Rustin P; Bellané-Chantelot C; Mougenot B; Grünfeld JP; Chauveau D
    J Am Soc Nephrol; 2003 Aug; 14(8):2099-108. PubMed ID: 12874464
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Contribution of the tRNA
    Meng F; He Z; Tang X; Zheng J; Jin X; Zhu Y; Ren X; Zhou M; Wang M; Gong S; Mo JQ; Shu Q; Guan MX
    J Biol Chem; 2018 Mar; 293(9):3321-3334. PubMed ID: 29348176
    [TBL] [Abstract][Full Text] [Related]  

  • 17. COXPD9 in an individual from Puerto Rico and literature review.
    Alsharhan H; Muraresku C; Ganetzky RD
    Am J Med Genet A; 2021 Aug; 185(8):2519-2525. PubMed ID: 34008913
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.
    Kleinle S; Schneider V; Moosmann P; Brandner S; Krähenbühl S; Liechti-Gallati S
    Biochem Biophys Res Commun; 1998 Jun; 247(1):112-5. PubMed ID: 9636664
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.
    Umeda N; Suzuki T; Yukawa M; Ohya Y; Shindo H; Watanabe K; Suzuki T
    J Biol Chem; 2005 Jan; 280(2):1613-24. PubMed ID: 15509579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
    Zsurka G; Hampel KG; Nelson I; Jardel C; Mirandola SR; Sassen R; Kornblum C; Marcorelles P; Lavoué S; Lombès A; Kunz WS
    Neurology; 2010 Feb; 74(6):507-12. PubMed ID: 20142618
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.