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 *

121 related articles for article (PubMed ID: 38226981)

  • 1. Correspondence on "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants" by Vogel et al.
    Kulseth MA
    Genet Med; 2024 Mar; 26(3):101038. PubMed ID: 38226981
    [No Abstract]   [Full Text] [Related]  

  • 2. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
    Vogel GF; Mozer-Glassberg Y; Landau YE; Schlieben LD; Prokisch H; Feichtinger RG; Mayr JA; Brennenstuhl H; Schröter J; Pechlaner A; Alkuraya FS; Baker JJ; Barcia G; Baric I; Braverman N; Burnyte B; Christodoulou J; Ciara E; Coman D; Das AM; Darin N; Della Marina A; Distelmaier F; Eklund EA; Ersoy M; Fang W; Gaignard P; Ganetzky RD; Gonzales E; Howard C; Hughes J; Konstantopoulou V; Kose M; Kerr M; Khan A; Lenz D; McFarland R; Margolis MG; Morrison K; Müller T; Murayama K; Nicastro E; Pennisi A; Peters H; Piekutowska-Abramczuk D; Rötig A; Santer R; Scaglia F; Schiff M; Shagrani M; Sharrard M; Soler-Alfonso C; Staufner C; Storey I; Stormon M; Taylor RW; Thorburn DR; Teles EL; Wang JS; Weghuber D; Wortmann S
    Genet Med; 2023 Jun; 25(6):100314. PubMed ID: 36305855
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
    Qin Z; Yang Q; Yi S; Huang L; Shen Y; Luo J
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1515. PubMed ID: 33205917
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
    Murali CN; Soler-Alfonso C; Loomes KM; Shah AA; Monteil D; Padilla CD; Scaglia F; Ganetzky R
    Mol Genet Metab; 2021 Feb; 132(2):146-153. PubMed ID: 33485800
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?].
    Gil-Margolis M; Mozer-Glassberg Y; Tobar A; Ashkenazi S; Zeharia A; Marom D
    Harefuah; 2018 Jan; 157(1):52-57. PubMed ID: 29374875
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Perioperative Management of Liver Retransplant in an Adult With a History of TRMU Alteration.
    Matus M; Morgan TL; McClain RL; Ladlie BL
    Exp Clin Transplant; 2022 Oct; 20(10):965-966. PubMed ID: 35867014
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Acute infantile liver failure due to mutations in the TRMU gene.
    Zeharia A; Shaag A; Pappo O; Mager-Heckel AM; Saada A; Beinat M; Karicheva O; Mandel H; Ofek N; Segel R; Marom D; Rötig A; Tarassov I; Elpeleg O
    Am J Hum Genet; 2009 Sep; 85(3):401-7. PubMed ID: 19732863
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Child With Ichthyosis and Liver Failure.
    Indolfi G; Iascone M; Remaschi G; Donati MA; Nesti C; Rubegni A; Pezzoli L; Buccoliero AM; Santorelli FM; Resti M
    J Pediatr Gastroenterol Nutr; 2017 Sep; 65(3):e70-e73. PubMed ID: 28562522
    [No Abstract]   [Full Text] [Related]  

  • 9. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
    Guan MX; Yan Q; Li X; Bykhovskaya Y; Gallo-Teran J; Hajek P; Umeda N; Zhao H; Garrido G; Mengesha E; Suzuki T; del Castillo I; Peters JL; Li R; Qian Y; Wang X; Ballana E; Shohat M; Lu J; Estivill X; Watanabe K; Fischel-Ghodsian N
    Am J Hum Genet; 2006 Aug; 79(2):291-302. PubMed ID: 16826519
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
    Boczonadi V; Smith PM; Pyle A; Gomez-Duran A; Schara U; Tulinius M; Chinnery PF; Horvath R
    Hum Mol Genet; 2013 Nov; 22(22):4602-15. PubMed ID: 23814040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
    Meng F; Cang X; Peng Y; Li R; Zhang Z; Li F; Fan Q; Guan AS; Fischel-Ghosian N; Zhao X; Guan MX
    J Biol Chem; 2017 Feb; 292(7):2881-2892. PubMed ID: 28049726
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
    Yan Q; Bykhovskaya Y; Li R; Mengesha E; Shohat M; Estivill X; Fischel-Ghodsian N; Guan MX
    Biochem Biophys Res Commun; 2006 Apr; 342(4):1130-6. PubMed ID: 16513084
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Mitochondrial liver disease caused by TRMU gene mutation].
    Zhang ZH; Ma XP; Guo HM
    Zhonghua Er Ke Za Zhi; 2020 Jul; 58(7):602-604. PubMed ID: 32605348
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
    Schara U; von Kleist-Retzow JC; Lainka E; Gerner P; Pyle A; Smith PM; Lochmüller H; Czermin B; Abicht A; Holinski-Feder E; Horvath R
    J Inherit Metab Dis; 2011 Feb; 34(1):197-201. PubMed ID: 21153446
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
    Yan Q; Guan MX
    Biochim Biophys Acta; 2004 Jan; 1676(2):119-26. PubMed ID: 14746906
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
    de Moraes VC; Alexandrino F; Andrade PB; Câmara MF; Sartorato EL
    Biochem Biophys Res Commun; 2009 Apr; 381(2):210-3. PubMed ID: 19338775
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
    Otaegui D; Irizar H; Goicoechea M; Pérez-Tur J; Belar M; López de Munain A
    Audiol Neurootol; 2008; 13(5):320-7. PubMed ID: 18391568
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
    Uusimaa J; Jungbluth H; Fratter C; Crisponi G; Feng L; Zeviani M; Hughes I; Treacy EP; Birks J; Brown GK; Sewry CA; McDermott M; Muntoni F; Poulton J
    J Med Genet; 2011 Oct; 48(10):660-668. PubMed ID: 21931168
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function.
    Zhang Q; Zhang L; Chen D; He X; Yao S; Zhang Z; Chen Y; Guan MX
    Nucleic Acids Res; 2018 Nov; 46(20):10930-10945. PubMed ID: 30137487
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.
    Cui Y; He DJ
    Mol Med Rep; 2018 Dec; 18(6):5159-5165. PubMed ID: 30272361
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.