A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome [PDF]
The Turkish Journal of Pediatrics, 2019 Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Işık Odaman-Al +8 more
doaj +6 more sources
Deciphering hub genes and immune landscapes related to neutrophil extracellular traps in rheumatoid arthritis: insights from integrated bioinformatics analyses and experiments [PDF]
Frontiers in ImmunologyBackgroundRheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial inflammation and progressive joint destruction. Neutrophil extracellular traps (NETs), a microreticular structure formed after neutrophil death, have recently ...
Yang Li +13 more
doaj +4 more sources
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia [PDF]
Gene, 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. We studied the genetic cause and clinical features of this condition in patients from the Persian population.
Setoodeh, Aria +4 more
core +8 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). We harnessed the power of unbiased, whole transcriptome differential gene expression analysis, utilizing primary patient cells and tissues to discover genes whose expression ...
Shahan Mamoor
openaire +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 SciThiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by biallelic loss of function variants in the SLC19A2 gene. It typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. In this work, we analyzed ten children with suspected TRMA: nine exhibited the full triad and
Gurzhikhanova M +16 more
europepmc +4 more sources
Recurrent stroke in a child with TRMA syndrome and SLC19A2 gene mutation [PDF]
Iranian Journal of Child Neurology, 2018 Here we report a 5-month-old boy with thiamine Responsive Megaloblastic Anemia syndrome (TRMA syndrome) with several attacks of stroke. In addition to the cardinal clinical manifestations of the syndrome (thiamine-responsive megaloblastic anemia, diabetes mellitus, and sensor neural hearing loss), the patient showed the ischemic attack of stroke ...
Karimzadeh, Parvaneh +3 more
openaire +2 more sources
A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome [PDF]
Journal of Tropical Pediatrics, 2008 Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome--when megaloblastic anemia and diabetes mellitus ...
Kocak, Uelker +8 more
openaire +5 more sources
Archivos Argentinos de Pediatria, 2017 Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.We report a girl which presented with ...
Karapinar, Tuba H. +12 more
openaire +4 more sources
Effect of the cigarette smoke component, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), on physiological and molecular parameters of thiamin uptake by pancreatic acinar cells. [PDF]
PLoS ONE, 2013 Thiamin is indispensable for the normal function of pancreatic acinar cells. These cells take up thiamin via specific carrier-mediated process that involves thiamin transporter-1 and -2 (THTR-1 and THTR-2; products of SLC19A2 and SLC19A3 genes ...
Padmanabhan Srinivasan +2 more
doaj +3 more sources
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report [PDF]
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 +3 more sources