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Diabetologia
Biallelic pathogenic variants in SLC19A2 (the solute carrier family 19 member 2, which encodes thiamine transporter 1, responsible for thiamine intake) cause a recessive syndromic diabetes of infancy or early childhood in the context of thiamine-responsive megaloblastic anaemia, characterised by sensorineural deafness.
Rosa Di Paola +2 more
exaly +3 more sources
Biallelic pathogenic variants in SLC19A2 (the solute carrier family 19 member 2, which encodes thiamine transporter 1, responsible for thiamine intake) cause a recessive syndromic diabetes of infancy or early childhood in the context of thiamine-responsive megaloblastic anaemia, characterised by sensorineural deafness.
Rosa Di Paola +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
Nature Genetics, 1999
Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment (MIM 249270).
V, Labay +11 more
openaire +2 more sources
Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment (MIM 249270).
V, Labay +11 more
openaire +2 more sources
American Journal of Physiology-Cell Physiology, 2003
The molecular mechanisms involved in the regulation of thiamin transport in mammalian cells are poorly understood. Previous studies established that a human thiamin transporter, SLC19A2, plays a role in thiamin uptake in human tissues. We cloned the 5′ regulatory region of the SLC19A2 gene, identified the minimal promoter required for basal activity ...
Jack C, Reidling, Hamid M, Said
openaire +2 more sources
The molecular mechanisms involved in the regulation of thiamin transport in mammalian cells are poorly understood. Previous studies established that a human thiamin transporter, SLC19A2, plays a role in thiamin uptake in human tissues. We cloned the 5′ regulatory region of the SLC19A2 gene, identified the minimal promoter required for basal activity ...
Jack C, Reidling, Hamid M, Said
openaire +2 more sources
Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
2012Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive ...
Ghaemi, Nosrat +3 more
openaire +1 more source
American Journal of Medical Genetics Part A, 2015
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease – megaloblastic anemia, early onset deafness, and non‐type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine
Violeta, Mikstiene +7 more
openaire +2 more sources
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease – megaloblastic anemia, early onset deafness, and non‐type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine
Violeta, Mikstiene +7 more
openaire +2 more sources
Gastroenterology, 2009
G A A b st ra ct s cells. By transfection with miR-29c or after treatment with celecoxib, expression of Mcl-1, which is recently reported as one of the targets of miR-29 family (Oncogene 26: 6133, 2007), is suppressed and apoptosis is induced in gastric cancer cells. Conclusions.
Xin Liu +8 more
openaire +1 more source
G A A b st ra ct s cells. By transfection with miR-29c or after treatment with celecoxib, expression of Mcl-1, which is recently reported as one of the targets of miR-29 family (Oncogene 26: 6133, 2007), is suppressed and apoptosis is induced in gastric cancer cells. Conclusions.
Xin Liu +8 more
openaire +1 more source
Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 2002
We have previously reported the cDNA cloning of the mouse thiamine transporter THTR-1 as a p53 transcriptional target gene (renamed THTR-1a hereinafter). The mouse THTR-1a is predicted to encode a protein of 12 hydrophobic stretches and a hydrophilic loop of 87 amino acids between transmembrane helices VI and VII. The mouse THTR-1 gene has been cloned,
Pang-Kuo, Lo, Fung-Fang, Wang
openaire +2 more sources
We have previously reported the cDNA cloning of the mouse thiamine transporter THTR-1 as a p53 transcriptional target gene (renamed THTR-1a hereinafter). The mouse THTR-1a is predicted to encode a protein of 12 hydrophobic stretches and a hydrophilic loop of 87 amino acids between transmembrane helices VI and VII. The mouse THTR-1 gene has been cloned,
Pang-Kuo, Lo, Fung-Fang, Wang
openaire +2 more sources
American Journal of Medical Genetics Part A, 2003
AbstractThiamine‐responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine‐responsive anemia. Mutations in the SLC19A2 gene encoding a high‐affinity thiamine transporter protein THTR‐1 are responsible for the clinical features associated ...
William H, Lagarde +3 more
openaire +2 more sources
AbstractThiamine‐responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine‐responsive anemia. Mutations in the SLC19A2 gene encoding a high‐affinity thiamine transporter protein THTR‐1 are responsible for the clinical features associated ...
William H, Lagarde +3 more
openaire +2 more sources
Blood, 2005
Abstract Megaloblastic anemia, diabetes, and sensorineural deafness characterize the autosomal recessive human disorder, Thiamine-Responsive Megaloblastic Anemia syndrome (TRMA). TRMA is due to mutations of the human SLC19A2 gene, which encodes a high-affinity thiamine membrane transporter.
Ellis J. Neufeld +3 more
openaire +1 more source
Abstract Megaloblastic anemia, diabetes, and sensorineural deafness characterize the autosomal recessive human disorder, Thiamine-Responsive Megaloblastic Anemia syndrome (TRMA). TRMA is due to mutations of the human SLC19A2 gene, which encodes a high-affinity thiamine membrane transporter.
Ellis J. Neufeld +3 more
openaire +1 more source