Results 1 to 10 of about 2,699,597 (146)

Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine-Responsive Megaloblastic Anemia in an Egyptian Family [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells.
Said Aoufouchi, Khalda S. Amr, Ghada Y El-Kamah   +2 more
exaly   +7 more sources

Diagnosis of a Patient With Severe Sensorineural Hearing Loss as the Initial Symptom Caused by Novel Compound Heterozygous Variant in SLC19A2 Gene [PDF]

Brazilian Journal of Otorhinolaryngology
Objective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.
Niu Li, Youjin Li, JunYang Li
exaly   +7 more sources

Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. [PDF]

J Clin Res Pediatr Endocrinol, 2013
Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA.
Ghaemi N, Ghahraman M, Abbaszadegan MR, Baradaran-Heravi A, Vakili R.   +4 more
europepmc   +3 more sources

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia-Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation. [PDF]

J Pediatr Genet, 2022
AbstractThiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C &
Spehar Uroic A, Milenkovic D, De Franco E, Bilic E, Rojnic Putarek N, Krnic N.   +5 more
europepmc   +3 more sources

Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series. [PDF]

Adv Biomed Res
The present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement.
Roshan R, Mehboob M, Latif R, Bhat JR, Rathod SG.   +4 more
europepmc   +2 more sources

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report. [PDF]

J Med Case Rep
Background Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Jiménez FX, Rojas C, Fernandez HA, Ruiz-Urbáez R, Reyes-Silva C, Guamán J, Carrión M, Naranjo-Saltos F.   +7 more
europepmc   +2 more sources

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an <i>SLC19A2</i> c.1223+1G>A Founder Mutation. [PDF]

Int J Mol Sci
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by biallelic loss of function variants in the SLC19A2 gene.
Gurzhikhanova M, Fomenko S, Chekanov N, Musharova O, Salimova T, Goronkova O, Abasov R, Raykina E, Zinchenko R, Sharova M, Khisamieva F, Imyanitov E, Sokolenko A, Klimuk E, Maschan A, Severinov K, Maschan M.   +16 more
europepmc   +2 more sources

Integrative Genetic and Transcriptomic Analysis Reveals Candidate Molecular Differences Among Dementia with Lewy Bodies, Alzheimer's Disease, and Parkinson's Disease Dementia. [PDF]

Int J Mol Sci
Öztan G, İşsever T, İşsever H.
europepmc   +1 more source

Exploring the bioavailability and bioactivity of thiamine versus allithiamine: studies in <i>Drosophila melanogaster</i> and mice. [PDF]

Front Nutr
Nevermann S, Weiß H, Fischer A, Lüersen K, Chikamoto K, Nakata D, Ishida Y, Furune T, Terao K, Rimbach G.   +9 more
europepmc   +1 more source

Clioquinol inactivates thiamine pyrophosphate by increasing cellular oxidative stress. [PDF]

Redox Biol
Fan Z, Yan X, Zheng Q, Zhu Z, Song B, Feng X, Pan S, Lv C, Shi P.   +8 more
europepmc   +1 more source