Results 121 to 130 of about 2,699,597 (146)

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, Hamid M Said, Tomoya Yasujima   +2 more
exaly   +2 more sources

Slc19a2: Cloning and Characterization of the Murine Thiamin Transporter cDNA and Genomic Sequence, the Orthologue of the Human TRMA Gene

Molecular Genetics and Metabolism, 2001
Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of 189 and 1857 bp, respectively.
George A Diaz, Bruce D. Gelb, Kimihiko Oishi   +2 more
exaly   +4 more sources

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family With Thiamine-Responsive Megaloblastic Anemia

Cellular Physiology and Biochemistry, 2018
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss ...
Fa-Quan Lin, Lin Liao, Yuanyuan Qin
exaly   +3 more sources

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Frameshift Variance in SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia (TRMA): A Case Report From Pakistan

International Journal of Diabetes in Developing Countries, 2020
Thiamine responsive megaloblastic anemia syndrome is a rare genetic disorder usually associated with sensorineural deafness, megaloblastic anemia, and/or diabetes mellitus due to mutations in SLC19A2, encoding a thiamine transporter protein. In this case, we report a 2.5-year-old baby boy born to consanguineous parents. He was noted to be deaf and mute
Abdul Basit, Asher Fawwad, Mohsina Ibrahim   +2 more
exaly   +2 more sources

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in theSLC19A2Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia

Laboratory Medicine, 2022
AbstractObjectiveSolute carrier family 19 member 2 (SLC19A2, OMIM *603941) encodes thiamine human transporter 1 (THTR-1), which contributes to bringing thiamine (vitamin B1) into cells. Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome.MethodsAn Iranian family with TRMA was ...
Neda Mohsen-Pour, Niloofar Naderi, Serwa Ghasemi, Mahshid Hesami, Majid Maleki, Samira Kalayinia   +5 more
openaire   +2 more sources

Analysis of SLC19A2, on 1q23.3 Encoding a Thiamine Transporter as a Candidate Gene for Type 2 Diabetes Mellitus in Pima Indians

Molecular Genetics and Metabolism, 2001
Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia (TRMA) frequently combined with diabetes mellitus and deafness. Type 2 diabetes mellitus is heritable and a region on 1q21-q23 encompassing SLC19A2 was linked with the disease in Pima Indians and Caucasians.
Clifton Bogardus, Johanna K Wolford, J K Wolford   +2 more
exaly   +3 more sources

Identification of transcriptional start sites and splicing of mouse thiamine transporter gene THTR-1 (Slc19a2)

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

Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

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, Jurgita, Songailiene, Jekaterina, Byckova, Giedre, Rutkauskiene, Edita, Jasinskiene, Rasa, Verkauskiene, Eugenijus, Lesinskas, Algirdas, Utkus   +7 more
openaire   +2 more sources

The Spectrum of Mutations, Including Four Novel Ones, in the Thiamine-Responsive Megaloblastic Anemia Gene SLC19A2 of Eight Families

Human Mutation, 2000
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well.
Marcos Borato Viana, Hanna Mandel, Jean-Michel Cayuela   +2 more
exaly   +3 more sources

Novel mutation in the SLC19A2 gene in an African‐American female with thiamine‐responsive megaloblastic anemia syndrome

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, Louis E, Underwood, Billie M, Moats-Staats, Ali S, Calikoglu   +3 more
openaire   +2 more sources