Results 71 to 80 of about 2,699,597 (146)

Thiamine status and genes encoding intestinal thiamine transporters and transcription factors in obese subjects

Background and aims: The inconsistent data on thiamine status in obese subjects necessitates an examination of genes associated with intestinal absorption of thiamine.
Dogan, Serkan, Dizdar, Oguzhan Sıtkı, Genton, Laurence, GÜNDOĞAN, KÜRŞAT, Erdem, Serife, CANATAN, HALİT, EKEN, AHMET, Deliktas, Elif Dilek, Genton Graf, Laurence   +8 more
core   +1 more source

Association of rs970740 and rs6025 with SLC19A2 cg16548605 CpG and ACVn levels in the MARTHA study.

, 2014
Association is expressed as the additive effect of the minor alleles on the variability of cg16548605 and log ACVn (95% Confidence Interval) adjusted for age, sex, batch, chip and cell type composition. In the univariate analysis(1), one SNP at a time is
Pierre-Emmanuel Morange (161602), Martin Ladouceur (144366), David-Alexandre Trégouët (133741), Nora Zwingerman (635735), Jessica Dennis (635734), Marine Germain (161547), Tara A. Paton (635737), Ares Rocanin-Arjo (635736), France Gagnon (73555), Vinh Truong (207097), Dylan Aïssi (635733)   +10 more
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Role of specific cis-regulatory elements in the minimal region of the SLC19A2 and SLC19A3 promoters in mediating the effect of chronic exposure to NNK.

, 2013
The mutated NNK-responsive minimal region of the SLC19A2 (A) and SLC19A3 (B) promoters in pGL3-Basic were transiently transfected into 266-6 cells and the luciferase assays was determined.
Veedamali S. Subramanian (452244), Padmanabhan Srinivasan (481324), Hamid M. Said (385809)   +2 more
core   +1 more source

Association⁽¹⁾ of SLC19A2CpG sites with rs6025 (FV Leiden mutation) in the discovery and replication studies.

, 2014
(1) Association is expressed as methylation β-value mean (SE) in carriers and non-carriers.(2) Reported p-values were those derived from a linear regression model where the probe methylation level was the outcome and the carrier status the covariate ...
Pierre-Emmanuel Morange (161602), Martin Ladouceur (144366), David-Alexandre Trégouët (133741), Nora Zwingerman (635735), Jessica Dennis (635734), Marine Germain (161547), Tara A. Paton (635737), Ares Rocanin-Arjo (635736), France Gagnon (73555), Vinh Truong (207097), Dylan Aïssi (635733)   +10 more
core   +1 more source

Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

, 2006
Aim: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is the association of diabetes mellitus, anaemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein.
Ricketts, Christopher, Ricketts, CJ, Wales, JK, Ariyawansa, I, Minton, JA, Lo, IF, Barrett, TG, Barrett, Timothy; id_orcid, Samuel, J   +8 more
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Thiamine-responsive megaloblastic anemia in two Ingush siblings with a homozygous <i>SLC19A2</i> c.1223+1G>A variant

Thiamine-responsive megaloblastic anemia (Rogers syndrome; OMIM #249270) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC19A2 gene, which encodes the high-affinity thiamine transporter type 1.
Medina Kh. Gurzhikhanova, O. V. Goronkova, A. A. Maschan, M. A. Maschan, T. Yu. Salimova, E. V. Raykina   +5 more
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Treatment of genetic defects of thiamine transport and metabolism

, 2016
Introduction: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes ...
Juan Darío Ortigoza-Escobar (2802793), Angela Arias (2802790), Belén Pérez-Dueñas (2802784), Marta Molero-Luis (499096), Laura Martí-Sánchez (2802796), Pilar Rodriguez-Pombo (2802787), Rafael Artuch (435125)   +6 more
core   +1 more source

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

, 1999
Thiamine-responsive megaloblastic anaemia with diabetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defect in thiamine (vitamin B1) transport. Pharmacological doses of thiamine correct the anaemia, and in some
Neufeld, E. J., Cohen, N., Fleming, J. C., Tartaglini, E., Schorderet, D. F., Steinkamp, M. P.   +5 more
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Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

, 2009
OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no.
L. Mathews, A. Bagg, E. Hexner, M. L. Ribeiro, I. Sahai, A. K. Bergmann, E. J. Neufeld, BORGNA, Caterina, L. Fabris, J. Fleming, K. J. Wierenga, J. F. Falcone, R. Casey   +12 more
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TripleVar: A Multimodal Deep Learning Framework for High-Fidelity Clinical Variant Effect Prediction in the Thiamine Transporter Genes SLC19A2 and SLC19A3

Description This record contains the accepted conference abstract for TripleVar, a multimodal deep learning framework for high-fidelity clinical variant effect prediction in the thiamine transporter genes SLC19A2 and SLC19A3. The work addresses the challenge of interpreting large numbers of variants of unknown significance (VUS) in rare but treatable ...
openaire   +1 more source