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Items: 1 to 20 of 67

1.
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese, Enza Mozzillo
Ital J Pediatr. 2023; 49: 158. Published online 2023 Nov 30. doi: 10.1186/s13052-023-01553-1
PMCID:
PMC10691017
AbstractArticlePDF–1.0M
2.
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent
Mohd Ashraf Ganie, Imran Ali, A. G. Ahangar, Mohd Maqbool Wani, Sanjeed Ahmed, Manzoor Ahmed Bhat, Sulaiman Seth, Syed Mudasir
Indian J Endocrinol Metab. 2012 Jul-Aug; 16(4): 646–650. doi: 10.4103/2230-8210.98033
PMCID:
PMC3401775
AbstractArticlePDF–1.1M
3.
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome
Abdulrahman Abdullah Hagr
Ann Saudi Med. 2014 Jan-Feb; 34(1): 78–80. doi: 10.5144/0256-4947.2014.78
PMCID:
PMC6074931
AbstractArticlePDF–548K
4.
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
E J Neufeld, H Mandel, T Raz, R Szargel, C N Yandava, A Stagg, S Fauré, T Barrett, N Buist, N Cohen
Am J Hum Genet. 1997 Dec; 61(6): 1335–1341. doi: 10.1086/301642
PMCID:
PMC1716091
SummaryPage BrowsePDF–1.1M
5.
Dyserythropoiesis and myelodysplasia in thiamine‐responsive megaloblastic anemia syndrome
Mojgan Faraji‐Goodarzi, Fariba Tarhani, Nadereh Taee
Clin Case Rep. 2020 Jun; 8(6): 991–994. Published online 2020 Mar 6. doi: 10.1002/ccr3.2791
PMCID:
PMC7303871
AbstractArticlePDF–215K
6.
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
Amy R. Stagg, Judith C. Fleming, Meghan A. Baker, Massayuki Sakamoto, Nadine Cohen, Ellis J. Neufeld
J Clin Invest. 1999 Mar 1; 103(5): 723–729. doi: 10.1172/JCI3895
PMCID:
PMC408117
AbstractArticlePDF–315K
7.
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
Pengjiang Kang, Weihua Zhang, Jinquan Wen, Jiming Zhang, Fei Li, Wuxia Sun
Front Pediatr. 2021; 9: 630329. Published online 2021 Mar 19. doi: 10.3389/fped.2021.630329
PMCID:
PMC8017196
AbstractArticlePDF–766K
8.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
Abdelhadi M. Habeb, Sarah E. Flanagan, Mohamed A. Zulali, Mohamed A. Abdullah, Renata Pomahačová, Veselin Boyadzhiev, Lesby E. Colindres, Guillermo V. Godoy, Thiruvengadam Vasanthi, Ramlah Al Saif, Aria Setoodeh, Amirreza Haghighi, Alireza Haghighi, Yomna Shaalan, International Neonatal Diabetes Consortium, Andrew T. Hattersley, Sian Ellard, Elisa De Franco
Diabetologia. 2018; 61(5): 1027–1036. Published online 2018 Feb 15. doi: 10.1007/s00125-018-4554-x
PMCID:
PMC6449001
AbstractArticlePDF–777K
9.
RNA-methyltransferase TrmA is a dual-specific enzyme responsible for C5-methylation of uridine in both tmRNA and tRNA
Ehsan Ranaei-Siadat, Céline Fabret, Bili Seijo, Frédéric Dardel, Henri Grosjean, Sylvie Nonin-Lecomte
RNA Biol. 2013 Apr 1; 10(4): 572–578. Published online 2013 Apr 1. doi: 10.4161/rna.24327
PMCID:
PMC3710363
AbstractArticlePDF–2.0M
10.
Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
Leyla Akın, Selim Kurtoğlu, Mustafa Kendirci, Mustafa Ali Akın, Musa Karakükçü
J Clin Res Pediatr Endocrinol. 2011 Mar; 3(1): 36–39. Published online 2011 Feb 23. doi: 10.4274/jcrpe.v3i1.08
PMCID:
PMC3065315
AbstractArticlePDF–374K
11.
Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation
Parvaneh KARIMZADEH, Toktam MOOSAVIAN, Hamidreza MOOSAVIAN
Iran J Child Neurol. 2018 Winter; 12(1): 84–88.
PMCID:
PMC5760677
AbstractArticlePDF–1.0M
12.
Structure of a TrmA–RNA complex: A consensus RNA fold contributes to substrate selectivity and catalysis in m5U methyltransferases
Akram Alian, Tom T. Lee, Sarah L. Griner, Robert M. Stroud, Janet Finer-Moore
Proc Natl Acad Sci U S A. 2008 May 13; 105(19): 6876–6881. Published online 2008 May 1. doi: 10.1073/pnas.0802247105
PMCID:
PMC2383949
AbstractArticlePDF–1.7M
13.
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family.
Dana Baron, Yehuda G. Assaraf, Nadine Cohen, Ami Aronheim
Mol Med. 2002 Aug; 8(8): 462–474.
PMCID:
PMC2040007
SummaryPDF–199K
14.
Amino acid residues of the Escherichia coli tRNA(m5U54)methyltransferase (TrmA) critical for stability, covalent binding of tRNA and enzymatic activity
Jaunius Urbonavičius, Gunilla Jäger, Glenn R. Björk
Nucleic Acids Res. 2007 May; 35(10): 3297–3305. Published online 2007 Apr 25. doi: 10.1093/nar/gkm205
PMCID:
PMC1904294
AbstractArticlePDF–3.0M
15.
Transductional mapping of gene trmA responsible for the production of 5-methyluridine in transfer ribonucleic acid of Escherichia coli.
G R Björk
J Bacteriol. 1975 Oct; 124(1): 92–98. doi: 10.1128/jb.124.1.92-98.1975
PMCID:
PMC235869
SummaryPage BrowsePDF–1.0M
16.
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang
BMC Pediatr. 2019; 19: 233. Published online 2019 Jul 11. doi: 10.1186/s12887-019-1608-2
PMCID:
PMC6625038
AbstractArticlePDF–1.2M
17.
The trmA promoter has regulatory features and sequence elements in common with the rRNA P1 promoter family of Escherichia coli.
C Gustafsson, P H Lindström, T G Hagervall, K B Esberg, G R Björk
J Bacteriol. 1991 Mar; 173(5): 1757–1764. doi: 10.1128/jb.173.5.1757-1764.1991
PMCID:
PMC207327
SummaryPage BrowsePDF–1.6M
18.
tRNA elbow modifications affect the tRNA pseudouridine synthase TruB and the methyltransferase TrmA
Sarah Kai-Leigh Schultz, Ute Kothe
RNA. 2020 Sep; 26(9): 1131–1142. doi: 10.1261/rna.075473.120
PMCID:
PMC7430675
AbstractArticlePDF–4.2M
19.
Cloning and restriction mapping of the trmA gene coding for transfer ribonucleic acid (5-methyluridine)-methyltransferase in Escherichia coli K-12.
T Ny, G R Björk
J Bacteriol. 1980 May; 142(2): 371–379. doi: 10.1128/jb.142.2.371-379.1980
PMCID:
PMC293980
SummaryPage BrowsePDF–1.5M
20.
The methyltransferase TrmA facilitates tRNA folding through interaction with its RNA-binding domain
Laura Carole Keffer-Wilkes, Emily F Soon, Ute Kothe
Nucleic Acids Res. 2020 Aug 20; 48(14): 7981–7990. Published online 2020 Jun 29. doi: 10.1093/nar/gkaa548
PMCID:
PMC7641329
AbstractArticlePDF–1.6M

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