155 related articles for article (PubMed ID: 37833669)
1. Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.
Guo R; Chen Y; Hu X; Qi Z; Guo J; Li Y; Hao C
BMC Med Genomics; 2023 Oct; 16(1):245. PubMed ID: 37833669
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
Antonellis A; Oprescu SN; Griffin LB; Heider A; Amalfitano A; Innis JW
Hum Mutat; 2018 Jun; 39(6):834-840. PubMed ID: 29573043
[TBL] [Abstract][Full Text] [Related]
3. FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
Krenke K; Szczałuba K; Bielecka T; Rydzanicz M; Lange J; Koppolu A; Płoski R
Clin Genet; 2019 Nov; 96(5):468-472. PubMed ID: 31355908
[TBL] [Abstract][Full Text] [Related]
4. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
Zadjali F; Al-Yahyaee A; Al-Nabhani M; Al-Mubaihsi S; Gujjar A; Raniga S; Al-Maawali A
Hum Mutat; 2018 Oct; 39(10):1355-1359. PubMed ID: 30014610
[TBL] [Abstract][Full Text] [Related]
5. FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Schuch LA; Forstner M; Rapp CK; Li Y; Smith DEC; Mendes MI; Delhommel F; Sattler M; Emiralioğlu N; Taskiran EZ; Orhan D; Kiper N; Rohlfs M; Jeske T; Hastreiter M; Gerstlauer M; Torrent-Vernetta A; Moreno-Galdó A; Kammer B; Brasch F; Reu-Hofer S; Griese M
Clin Genet; 2021 Jun; 99(6):789-801. PubMed ID: 33598926
[TBL] [Abstract][Full Text] [Related]
6. Fatal systemic disorder caused by biallelic variants in FARSA.
Kim SY; Ko S; Kang H; Kim MJ; Moon J; Lim BC; Kim KJ; Choi M; Choi HJ; Chae JH
Orphanet J Rare Dis; 2022 Aug; 17(1):306. PubMed ID: 35918773
[TBL] [Abstract][Full Text] [Related]
7. Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F; Goguyer-Deschaumes R; Borensztajn K; Mirande M; Berthelet J; Rodrigues-Lima F; Khiat A; Frémond ML; Bader-Meunier B; Rodari MM; Seabra L; Rice GI; Legendre M; Drummond D; Berteloot L; Roux CJ; Boddaert N; Drabent P; Molina TJ; Lacaille F; Kossorotoff M; Cerf-Bensussan N; Parlato M; Hadchouel A
Clin Genet; 2022 May; 101(5-6):552-558. PubMed ID: 35132614
[TBL] [Abstract][Full Text] [Related]
8. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M; Wang J; Dai H; El-Hattab AW; Faqeih EA; Saleh MA; Al Asmari A; Alwadei AH; Aljadhai YI; AlHashem A; Tabarki B; Lines MA; Grange DK; Benini R; Alsaman AS; Mahmoud A; Katsonis P; Lichtarge O; Wong LC
Mol Genet Metab; 2018 Nov; 125(3):281-291. PubMed ID: 30177229
[TBL] [Abstract][Full Text] [Related]
9. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z; Lo WS; Beck DB; Schuch LA; Oláhová M; Kopajtich R; Chong YE; Alston CL; Seidl E; Zhai L; Lau CF; Timchak D; LeDuc CA; Borczuk AC; Teich AF; Juusola J; Sofeso C; Müller C; Pierre G; Hilliard T; Turnpenny PD; Wagner M; Kappler M; Brasch F; Bouffard JP; Nangle LA; Yang XL; Zhang M; Taylor RW; Prokisch H; Griese M; Chung WK; Schimmel P
Am J Hum Genet; 2018 Jul; 103(1):100-114. PubMed ID: 29979980
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Roux CJ; Barcia G; Schiff M; Sissler M; Levy R; Dangouloff-Ros V; Desguerre I; Edvardson S; Elpeleg O; Rötig A; Munnich A; Boddaert N
Mol Genet Metab; 2021 Jun; 133(2):222-229. PubMed ID: 33972171
[TBL] [Abstract][Full Text] [Related]
11. Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer.
Gao X; Guo R; Li Y; Kang G; Wu Y; Cheng J; Jia J; Wang W; Li Z; Wang A; Xu H; Jia Y; Li Y; Qi X; Wei Z; Wei C
J Gastroenterol Hepatol; 2021 Nov; 36(11):3113-3126. PubMed ID: 34159625
[TBL] [Abstract][Full Text] [Related]
12. Escherichia coli phenylalanyl-tRNA synthetase operon: characterization of mutations isolated on multicopy plasmids.
Plumbridge JA; Springer M
J Bacteriol; 1982 Nov; 152(2):650-60. PubMed ID: 6290444
[TBL] [Abstract][Full Text] [Related]
13. Bacillus subtilis phenylalanyl-tRNA synthetase genes: cloning and expression in Escherichia coli and B. subtilis.
Brakhage AA; Putzer H; Shazand K; Röschenthaler RJ; Grunberg-Manago M
J Bacteriol; 1989 Feb; 171(2):1228-32. PubMed ID: 2492510
[TBL] [Abstract][Full Text] [Related]
14. Regulation of E.coli phenylalanyl-tRNA synthetase operon in vivo.
Trudel M; Springer M; Graffe M; Fayat G; Blanquet S; Grunberg-Manago M
Biochim Biophys Acta; 1984 May; 782(1):10-7. PubMed ID: 6426518
[TBL] [Abstract][Full Text] [Related]
15. Overexpression of mammalian phenylalanyl-tRNA synthetase upon phenylalanine restriction.
Lazard M; Mirande M; Waller JP
FEBS Lett; 1987 May; 216(1):27-30. PubMed ID: 3582665
[TBL] [Abstract][Full Text] [Related]
16. Escherichia coli phenylalanyl-tRNA synthetase operon is controlled by attenuation in vivo.
Springer M; Trudel M; Graffe M; Plumbridge J; Fayat G; Mayaux JF; Sacerdot C; Blanquet S; Grunberg-Manago M
J Mol Biol; 1983 Dec; 171(3):263-79. PubMed ID: 6317866
[TBL] [Abstract][Full Text] [Related]
17. Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
Okamoto N; Miya F; Tsunoda T; Kanemura Y; Saitoh S; Kato M; Yanagi K; Kaname T; Kosaki K
Neurol Sci; 2022 Apr; 43(4):2765-2774. PubMed ID: 34585293
[TBL] [Abstract][Full Text] [Related]
18. Isolation and characterization of the yeast gene coding for the alpha subunit of mitochondrial phenylalanyl-tRNA synthetase.
Koerner TJ; Myers AM; Lee S; Tzagoloff A
J Biol Chem; 1987 Mar; 262(8):3690-6. PubMed ID: 3029120
[TBL] [Abstract][Full Text] [Related]
19. Escherichia coli phenylalanyl-tRNA synthetase operon: transcription studies of wild-type and mutated operons on multicopy plasmids.
Plumbridge JA; Springer M
J Bacteriol; 1982 Nov; 152(2):661-8. PubMed ID: 6215395
[TBL] [Abstract][Full Text] [Related]
20. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L; Sticht H; Surowy H; Lüdecke HJ; Koch-Hogrebe M; Alsaif HS; Kahrizi K; Alzaidan H; Alawam BS; Tohary M; Kraus C; Endele S; Wadman E; Kaplan JD; Efthymiou S; Najmabadi H; Reis A; Alkuraya FS; Wieczorek D
J Mol Med (Berl); 2021 Dec; 99(12):1755-1768. PubMed ID: 34536092
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
