Results 111 to 120 of about 563,023 (137)
Retinol-binding protein 3 in ophthalmology: current evidence, research progress, and future perspectives. [PDF]
Front ImmunolLi M, Liang R, Guo S, Zhou X.
europepmc +1 more source
Precision diagnosis and treatment of vitamin metabolism-related epilepsy. [PDF]
Acta EpileptolGan Y +5 more
europepmc +1 more source
Precision diagnosis for monogenic diabetes requires ethnicity specific criteria for genetic testing
Jones S +18 more
europepmc +1 more source
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2 [PDF]
AAPS Journal, 2021 Abstract 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.
Kathleen Giacomini +2 more
exaly +7 more sources
pH-Dependent Pyridoxine Transport by SLC19A2 and SLC19A3: Implications for Absorption in Acidic Microclimates [PDF]
Journal of Biological Chemistry, 2020 SLC19A2 and SLC19A3, also known as thiamine transporters (THTR) 1 and 2, respectively, transport the positively charged thiamine (vitamin B1) into cells to enable its efficient utilization.
Hiroaki Yuasa +2 more
exaly +2 more sources
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Pediatric Diabetes, 2012
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic
Andrew Tym Hattersley +2 more
exaly +7 more sources
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic
Andrew Tym Hattersley +2 more
exaly +7 more sources
European Journal of Pediatrics, 2012
Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far
Herbert Pichler +2 more
exaly +3 more sources
Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far
Herbert Pichler +2 more
exaly +3 more sources
Pediatric Diabetes, 2013
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes. In some cases, optic atrophy or more rarely retinitis pigmentosa is noted.
Sian Ellard +2 more
exaly +4 more sources
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes. In some cases, optic atrophy or more rarely retinitis pigmentosa is noted.
Sian Ellard +2 more
exaly +4 more sources