| Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia. | Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour N, Naderi N, Ghasemi S, Hesami M, Maleki M, Kalayinia S. | 11/12/2022 |
| The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2. | The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Enogieru OJ, Koleske ML, Vora B, Ngo H, Yee SW, Chatad D, Sirota M, Giacomini KM., Free PMC Article | 11/13/2021 |
| pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates. | pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.
Yamashiro T, Yasujima T, Said HM, Yuasa H., Free PMC Article | 04/13/2021 |
| 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. | 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
Ahn TK, Kim JO, An HJ, Park HS, Choi UY, Sohn S, Kim KT, Kim NK, Han IB., Free PMC Article | 03/20/2021 |
| Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells. | Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells.
Ramamoorthy K, Anandam KY, Yasujima T, Srinivasan P, Said HM., Free PMC Article | 12/19/2020 |
| TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. | TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X., Free PMC Article | 09/5/2020 |
| Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia. | A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. | 07/11/2020 |
| Study demonstrate that SLC19A2 deficit causes impaired insulin secretion in conjunction with mitochondrial dysfunction, loss of protection against oxidative stress, and cell cycle arrest. These findings link SLC19A2 mutations to autosomal dominant diabetes and suggest a role of SLC19A2 in beta-cell function and survival. | Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.
Jungtrakoon P, Shirakawa J, Buranasupkajorn P, Gupta MK, De Jesus DF, Pezzolesi MG, Panya A, Hastings T, Chanprasert C, Mendonca C, Kulkarni RN, Doria A., Free PMC Article | 11/23/2019 |
| SLC19A2 mutation is associated with permanent neonatal diabetes mellitus. | Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
Sun C, Pei Z, Zhang M, Sun B, Yang L, Zhao Z, Cheng R, Luo F. | 08/18/2018 |
| A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.( | A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.
Xian X, Liao L, Shu W, Li H, Qin Y, Yan J, Luo J, Lin FQ. | 08/18/2018 |
| A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome. | Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
Mikstiene V, Songailiene J, Byckova J, Rutkauskiene G, Jasinskiene E, Verkauskiene R, Lesinskas E, Utkus A. | 03/19/2016 |
| Individuals with genotype A80A for the SLC19A1 gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma. | Reduced folate carrier-1 G80a gene polymorphism is associated with neuroblastoma's development.
de Miranda DO, Barros JE, Vieira MM, Lima EL, Moraes VL, da Silva HA, Garcia HL, Lima CA, Gomes AV, Santos N, Muniz MT. | 10/31/2015 |
| The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. | Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
Akbari MT, Zare Karizi S, Mirfakhraie R, Keikhaei B. | 07/25/2015 |
| the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism | Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.
Wood MC, Tsiouris JA, Velinov M. | 01/24/2015 |
| Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia. | Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.
Liu G, Yang F, Han B, Liu J, Nie G. | 12/20/2014 |
| 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. | Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N. | 11/8/2014 |
| 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. | Genetic implication of a novel thiamine transporter in human hypertension.
Zhang K, Huentelman MJ, Rao F, Sun EI, Corneveaux JJ, Schork AJ, Wei Z, Waalen J, Miramontes-Gonzalez JP, Hightower CM, Maihofer AX, Mahata M, Pastinen T, Ehret GB, International Consortium for Blood Pressure Genome-Wide Association Studies, Schork NJ, Eskin E, Nievergelt CM, Saier MH Jr, O'Connor DT., Free PMC Article | 06/14/2014 |
| 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. | Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
Ghaemi N, Ghahraman M, Abbaszadegan MR, Baradaran-Heravi A, Vakili R., Free PMC Article | 04/19/2014 |
| 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. | Up-regulation of vitamin B1 homeostasis genes in breast cancer.
Zastre JA, Hanberry BS, Sweet RL, McGinnis AC, Venuti KR, Bartlett MG, Govindarajan R. | 03/8/2014 |
| 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 | Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A. | 03/1/2014 |
| Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes. | Glucose-induced down regulation of thiamine transporters in the kidney proximal tubular epithelium produces thiamine insufficiency in diabetes.
Larkin JR, Zhang F, Godfrey L, Molostvov G, Zehnder D, Rabbani N, Thornalley PJ., Free PMC Article | 07/27/2013 |
| Thiamine transporter 2 deficiency is a recessive disease caused by mutations in the SLC19A3 genes. | Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.
Pérez-Dueñas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R. | 07/20/2013 |
| A non-sense mutation SLC19A2 was found in four patients with Thiamine-responsive megaloblastic anemia, indicating its high frequency in Persian population. | Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A., Free PMC Article | 05/25/2013 |
| Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. | Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, Ellard S. | 09/29/2012 |
| Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A. | Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
Yilmaz Agladioglu S, Aycan Z, Bas VN, Peltek Kendirci HN, Onder A. | 09/1/2012 |