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Thiamine-responsive megaloblastic anaemia.
Veetil VM, Pachat D, Nikitha K, Kutty JM. Veetil VM, et al. Natl Med J India. 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21. Natl Med J India. 2023. PMID: 38759983 Free article.
Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. ...
Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic …
Phospholipid scrambling induced by an ion channel/metabolite transporter complex.
Niu H, Maruoka M, Noguchi Y, Kosako H, Suzuki J. Niu H, et al. Nat Commun. 2024 Aug 31;15(1):7566. doi: 10.1038/s41467-024-51939-w. Nat Commun. 2024. PMID: 39217145 Free PMC article.
Here, we demonstrate that a protein complex, consisting of the ion channel Tmem63b and the thiamine transporter Slc19a2, induces PLS upon calcium (Ca(2+)) stimulation. Through revival screening using a CRISPR sgRNA library on high PLS cells, we identify Tmem63b as a PLS-in …
Here, we demonstrate that a protein complex, consisting of the ion channel Tmem63b and the thiamine transporter Slc19a2, induces PLS …
The role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis.
Marucci A, Derhourhi M, Menzaghi C, Fini G, Valenzano M, Zampetti S, Doria A, Froguel P, Bonnefond A, Trischitta V, Di Paola R. Marucci A, et al. Diabetologia. 2025 Oct;68(10):2240-2246. doi: 10.1007/s00125-025-06485-5. Epub 2025 Jul 2. Diabetologia. 2025. PMID: 40603556
AIMS/HYPOTHESIS: 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 o …
AIMS/HYPOTHESIS: Biallelic pathogenic variants in SLC19A2 (the solute carrier family 19 member 2, which encodes thiamine tr …
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B. Shadab M, et al. Mol Diagn Ther. 2025 Jul;29(4):519-537. doi: 10.1007/s40291-025-00782-w. Epub 2025 May 16. Mol Diagn Ther. 2025. PMID: 40377830 Free PMC article.
RESULTS: We identified ten pathogenic, three likely pathogenic variants, and one variant of uncertain significance, comprising six nonsense, four missense, three frameshift, and one deep intronic variant, across ten hearing loss-associated genes (MYO15A, GJB2, SLC26A4, TMC1, HGF, …
RESULTS: We identified ten pathogenic, three likely pathogenic variants, and one variant of uncertain significance, comprising six nonsense, …
Deciphering hub genes and immune landscapes related to neutrophil extracellular traps in rheumatoid arthritis: insights from integrated bioinformatics analyses and experiments.
Li Y, Liu J, Sun Y, Hu Y, Zhou Q, Cong C, Chen Y. Li Y, et al. Front Immunol. 2025 Jan 8;15:1521634. doi: 10.3389/fimmu.2024.1521634. eCollection 2024. Front Immunol. 2025. PMID: 39845946 Free PMC article.
In this context, 4 key hub genes (CRYBG1, RMM2, MMP1, and SLC19A2) associated with NETs were identified. A nomogram model with a diagnostic value was developed and evaluated. ...IHC and RT-qPCR findings showed high expression of CRYBG1, RMM2, and MMP1 in synovial and neutr …
In this context, 4 key hub genes (CRYBG1, RMM2, MMP1, and SLC19A2) associated with NETs were identified. A nomogram model with a diag …
Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.
Myers R, Yildiz M, Nuri Ozbek M, Manzoor J, Ibrahim M, Yajnik C, Atar M, Şiklar Z, Acar S, Globa E, Magdy Omar O, Demirbilek H, Hassan S, Demir K, Hanif M, Guran T, Hatipoglu N, Koçyiğit C, Colclough K, Houghton J, Hattersley A, Van Heugten R, Patel K; Monogenic Diabetes Consortium. Myers R, et al. J Clin Endocrinol Metab. 2026 Jan 21;111(2):e362-e367. doi: 10.1210/clinem/dgaf430. J Clin Endocrinol Metab. 2026. PMID: 40746173 Free PMC article.
Of these, 84% (51/61) had recessive etiologies with variants in WFS1 (46%), SLC19A2 (12%) and SLC29A3 (12%) being most common. Monogenic cases compared to non-monogenic had similar age of diagnosis (7.4 vs 6, P = .1) and body mass index z-score (-0.08 vs -0.41, P = .3) but …
Of these, 84% (51/61) had recessive etiologies with variants in WFS1 (46%), SLC19A2 (12%) and SLC29A3 (12%) being most common. Monoge …
Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene.
Shi Y, Li J, Chen X, Li N, Yang S, Li Y, Zhou M. Shi Y, et al. Braz J Otorhinolaryngol. 2025 Jul-Aug;91(4):101581. doi: 10.1016/j.bjorl.2025.101581. Epub 2025 Apr 11. Braz J Otorhinolaryngol. 2025. PMID: 40220483 Free PMC article.
OBJECTIVE: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss. ...The cDNA experiment confirmed this b …
OBJECTIVE: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typical …
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. Mohsen-Pour N, et al. Lab Med. 2022 Nov 3;53(6):640-650. doi: 10.1093/labmed/lmac040. Lab Med. 2022. PMID: 35686496 Free article.
Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome. METHODS: An Iranian family with TRMA was investigated by whole-exome sequencing (WES) to determine the genetic cause(s) of the dise …
Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome …
Genetic diversity and dietary adaptations of the Central Plains Han Chinese population in East Asia.
Qiao X, Shi J, Xu H, Liu K, Pu Y, Xue X, Zheng W, Guo Y, Ma H, Wang CC, Bitsue HK, Xu X, Wang S, Zhao J, Guo X, Hou X, Wang X, Peng L, Qiu Z, Su B, Tang W, He Y, Guo J, Yang Z. Qiao X, et al. Commun Biol. 2025 Feb 22;8(1):291. doi: 10.1038/s42003-025-07760-2. Commun Biol. 2025. PMID: 39987348 Free PMC article.
We found the CPHC has a higher level of genetic diversity and the glycolipid metabolic genes show strong selection signals, e.g. LONP2, FADS2, FGF21 and SLC19A2. Ancient DNA analyses suggest that the domestication of crops, which drove the emergence of the candidate mutati …
We found the CPHC has a higher level of genetic diversity and the glycolipid metabolic genes show strong selection signals, e.g. LONP2, FADS …
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.
Sharma P, Bhatia P, Singh M, Jamwal M, Pallavelangini S, Das R, Malhotra P, Attri SV, Ducamp S, Fleming MD, Trehan A. Sharma P, et al. J Mol Diagn. 2024 May;26(5):430-444. doi: 10.1016/j.jmoldx.2024.01.011. Epub 2024 Feb 13. J Mol Diagn. 2024. PMID: 38360212 Free article.
Congenital sideroblastic anemia was the most common diagnosis (14/23; 61%), with pathogenic variations in ALAS2 (n = 6), SLC25A38 (n = 3), HSPA9 (n = 2) and HSCB, SLC19A2, and mitochondrial DNA deletion (n = 1 each). Nonsideroblastic iron defects included STEAP3-related mi …
Congenital sideroblastic anemia was the most common diagnosis (14/23; 61%), with pathogenic variations in ALAS2 (n = 6), SLC25A38 (n = 3), H …
13 results