155 related articles for article (PubMed ID: 27259054)
1. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Boyle L; Wamelink MMC; Salomons GS; Roos B; Pop A; Dauber A; Hwa V; Andrew M; Douglas J; Feingold M; Kramer N; Saitta S; Retterer K; Cho MT; Begtrup A; Monaghan KG; Wynn J; Chung WK
Am J Hum Genet; 2016 Jun; 98(6):1235-1242. PubMed ID: 27259054
[TBL] [Abstract][Full Text] [Related]
2. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ; Donti TR; Xiao J; Gijavanekar C; Kennedy AD; Hubert L; Rodan L; Vanderpluym C; Nowak C; Bjornsson HT; Ganetzky R; Berry GT; Pappan KL; Sutton VR; Sun Q; Elsea SH
Mol Genet Metab; 2020; 131(1-2):147-154. PubMed ID: 32828637
[TBL] [Abstract][Full Text] [Related]
3. Transketolase in human Müller cells is critical to resist light stress through the pentose phosphate and NRF2 pathways.
Chen Y; Zhang T; Zeng S; Xu R; Jin K; Coorey NJ; Wang Y; Wang K; Lee SR; Yam M; Zhu M; Chang A; Fan X; Zhang M; Du J; Gillies MC; Zhu L
Redox Biol; 2022 Aug; 54():102379. PubMed ID: 35779441
[TBL] [Abstract][Full Text] [Related]
4. Novel transketolase inhibitor oroxylin A suppresses the non-oxidative pentose phosphate pathway and hepatocellular carcinoma tumour growth in mice and patient-derived organoids.
Jia D; Liu C; Zhu Z; Cao Y; Wen W; Hong Z; Liu Y; Liu E; Chen L; Chen C; Gu Y; Jiao B; Chai Y; Wang HY; Fu J; Chen X
Clin Transl Med; 2022 Nov; 12(11):e1095. PubMed ID: 36314067
[TBL] [Abstract][Full Text] [Related]
5. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Ling TT; Sorrentino S
Am J Med Genet A; 2016 Jan; 170A(1):217-9. PubMed ID: 26374271
[TBL] [Abstract][Full Text] [Related]
6. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Scott DA; Hernandez-Garcia A; Azamian MS; Jordan VK; Kim BJ; Starkovich M; Zhang J; Wong LJ; Darilek SA; Breman AM; Yang Y; Lupski JR; Jiwani AK; Das B; Lalani SR; Iglesias AD; Rosenfeld JA; Xia F
J Med Genet; 2017 Jan; 54(1):47-53. PubMed ID: 27550220
[TBL] [Abstract][Full Text] [Related]
7. A δ38 deletion variant of human transketolase as a model of transketolase-like protein 1 exhibits no enzymatic activity.
Schneider S; Lüdtke S; Schröder-Tittmann K; Wechsler C; Meyer D; Tittmann K
PLoS One; 2012; 7(10):e48321. PubMed ID: 23118983
[TBL] [Abstract][Full Text] [Related]
8. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
Kaasinen E; Rahikkala E; Koivunen P; Miettinen S; Wamelink MM; Aavikko M; Palin K; Myllyharju J; Moilanen JS; Pajunen L; Karhu A; Aaltonen LA
Eur J Med Genet; 2014 Oct; 57(10):543-51. PubMed ID: 25078763
[TBL] [Abstract][Full Text] [Related]
9. Transketolase Deficiency Protects the Liver from DNA Damage by Increasing Levels of Ribose 5-Phosphate and Nucleotides.
Li M; Lu Y; Li Y; Tong L; Gu XC; Meng J; Zhu Y; Wu L; Feng M; Tian N; Zhang P; Xu T; Lin SH; Tong X
Cancer Res; 2019 Jul; 79(14):3689-3701. PubMed ID: 31101762
[No Abstract] [Full Text] [Related]
10. Transketolase gene expression in the cornea is influenced by environmental factors and developmentally controlled events.
Sax CM; Kays WT; Salamon C; Chervenak MM; Xu YS; Piatigorsky J
Cornea; 2000 Nov; 19(6):833-41. PubMed ID: 11095059
[TBL] [Abstract][Full Text] [Related]
11. Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
Hawer H; Mendelsohn BA; Mayer K; Kung A; Malhotra A; Tuupanen S; Schleit J; Brinkmann U; Schaffrath R
Eur J Hum Genet; 2020 Nov; 28(11):1497-1508. PubMed ID: 32576952
[TBL] [Abstract][Full Text] [Related]
12. Transketolase counteracts oxidative stress to drive cancer development.
Xu IM; Lai RK; Lin SH; Tse AP; Chiu DK; Koh HY; Law CT; Wong CM; Cai Z; Wong CC; Ng IO
Proc Natl Acad Sci U S A; 2016 Feb; 113(6):E725-34. PubMed ID: 26811478
[TBL] [Abstract][Full Text] [Related]
13. The mouse transketolase (TKT) gene: cloning, characterization, and functional promoter analysis.
Salamon C; Chervenak M; Piatigorsky J; Sax CM
Genomics; 1998 Mar; 48(2):209-20. PubMed ID: 9521875
[TBL] [Abstract][Full Text] [Related]
14. Transketolase haploinsufficiency reduces adipose tissue and female fertility in mice.
Xu ZP; Wawrousek EF; Piatigorsky J
Mol Cell Biol; 2002 Sep; 22(17):6142-7. PubMed ID: 12167708
[TBL] [Abstract][Full Text] [Related]
15. The role of transketolase in human cancer progression and therapy.
Hao S; Meng Q; Sun H; Li Y; Li Y; Gu L; Liu B; Zhang Y; Zhou H; Xu Z; Wang Y
Biomed Pharmacother; 2022 Oct; 154():113607. PubMed ID: 36030587
[TBL] [Abstract][Full Text] [Related]
16. Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB; Meunier B; Mestek-Boukhibar L; van den Broek F; Maldonado EM; Clement E; Weghuber D; Spenger J; Jaros Z; Taha F; Yue WW; Heales SJ; Davison JE; Mayr JA; Rahman S
Am J Hum Genet; 2020 Feb; 106(2):256-263. PubMed ID: 32004446
[TBL] [Abstract][Full Text] [Related]
17. Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
LaHaye S; Corsmeier D; Basu M; Bowman JL; Fitzgerald-Butt S; Zender G; Bosse K; McBride KL; White P; Garg V
Circ Cardiovasc Genet; 2016 Aug; 9(4):320-9. PubMed ID: 27418595
[TBL] [Abstract][Full Text] [Related]
18. Identification of transketolase as a target of PARIS in substantia nigra.
Kim H; Kang H; Lee Y; Park CH; Jo A; Khang R; Shin JH
Biochem Biophys Res Commun; 2017 Nov; 493(2):1050-1056. PubMed ID: 28939041
[TBL] [Abstract][Full Text] [Related]
19. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL; Homma TK; Funari MFA; Lerario AM; Leal AM; Velloso EDRP; Malaquias AC; Jorge AAL
Eur J Med Genet; 2018 Mar; 61(3):130-133. PubMed ID: 29133208
[TBL] [Abstract][Full Text] [Related]
20. Transketolase of Staphylococcus aureus in the Control of Master Regulators of Stress Response During Infection.
Tan X; Ramond E; Jamet A; Barnier JP; Decaux-Tramoni B; Dupuis M; Euphrasie D; Tros F; Nemazanyy I; Ziveri J; Nassif X; Charbit A; Coureuil M
J Infect Dis; 2019 Nov; 220(12):1967-1976. PubMed ID: 31420648
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
