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A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome.
Individuals with genotype A80A for the SLC19A1 (zeige SLC19A1 ELISA Kits) gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma (zeige ARHGEF16 ELISA Kits).
The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome.
the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism
Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia.
Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a thiamine responsive megaloblastic anemia patient.
Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak.
study presents three thiamine-responsive megaloblastic anemia patients with a novel missense mutation in the SLC19A2 gene (c.382 G>A (p.E128K)). Administration of thiamine in patients with TRMA ameliorates the megaloblastic anemia and diabetes mellitus.
These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines.
study identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in the SLC19A2 gene in two sisters with thiamine responsive megaloblastic anemia
This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.
thiamine transporter 1
, solute carrier family 19 (thiamine transporter), member 2
, Novel solute carrier family 19 protein
, thiamine transporter 1-like
, high affinity thiamine transporter
, reduced folate carrier protein (RFC) like
, solute carrier family 19 member 2