Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Purpose In patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single-gene mutations, also known as monogenic diabetes of infancy or neonatal DM (NDM).
Yasmine Abdelmeguid +4 more
doaj +1 more source
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2 [PDF]
, 2021 A rare cause of megaloblastic anemia (MA) is thiamine-responsive megaloblastic anemia (TRMA), a genetic disorder caused by mutations in SLC19A2 (encoding THTR1), a thiamine transporter.
Ngo, Huy +15 more
core +1 more source
Elevated thiamine level is associated with activating interaction between HIF-1α and SLC19A3 in experimental myopic guinea pigs. [PDF]
Front Med (Lausanne)BackgroundThe SLC19 gene family of solute carriers is a family of three transporter proteins with similar structures, of which SLC19A2 and SLC19A3 mediate thiamin transport; HIF is a transcriptionally active nuclear protein that is a key factor activated
Ma Z +9 more
europepmc +2 more sources
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia [PDF]
, 2013 Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene.
N Saleh-Gohari (21826064) +3 more
core +4 more sources
Differential expression of SLC19A2 in amyotrophic lateral sclerosis.
, 2023 Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2).
Shahan Mamoor
core +1 more source
Thiamine-responsive megaloblastic anemia syndrome: A case report
Journal of Diabetology, 2020 Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by a cardinal triad consisting of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Omkar Patil +5 more
doaj +1 more source
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine‐responsive megaloblastic anaemia, diabetes and deafness syndrome [PDF]
British Journal of Haematology, 2001 Thiamine‐responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high‐affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patient exhibited defective thiamine transport.
S, Gritli +11 more
openaire +2 more sources
BMC Pediatrics, 2019 Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Xin Li +6 more
doaj +1 more source
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I [PDF]
Journal of Medical Genetics, 2000 The thiamine transporter geneSLC19A2 was recently found to be mutated in thiamine responsive megaloblastic anaemia with diabetes and deafness (TRMA, Rogers syndrome), an early onset autosomal recessive disorder. We now report a novel G1074A transition mutation in exon 4 of theSLC19A2 gene, predicting a Trp358 to ter change, in a girl with ...
C, Scharfe +6 more
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Neurobiology of Disease, 2022 Alzheimer's disease (AD) is a neurodegenerative disease characterized by Amyloid-β peptide (Aβ) containing plaques and cognitive deficits. The pathophysiology of AD also involves neuroinflammation.
Kalidas Ramamoorthy +7 more
doaj +1 more source