transcobalamin II


Gene Symbol: transcobalamin II
Description: transcobalamin 2
Alias: D22S676, D22S750, TC II, TC-2, TC2, TCII, transcobalamin-2, macrocytic anemia, transcobalamin II, transcobalamin II; macrocytic anemia, vitamin B12-binding protein 2
Species: human
Products:     transcobalamin II

Top Publications

  1. Namour F, Olivier J, Abdelmouttaleb I, Adjalla C, Debard R, Salvat C, et al. Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: relation to transcobalamin and homocysteine concentration in blood. Blood. 2001;97:1092-8 pubmed
    ..02 and P =.01, respectively). In conclusion, TC codon-259 polymorphism affects TC plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism. ..
  2. Afman L, Lievers K, van der Put N, Trijbels F, Blom H. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur J Hum Genet. 2002;10:433-8 pubmed
  3. Zetterberg H, Regland B, Palmer M, Rymo L, Zafiropoulos A, Arvanitis D, et al. The transcobalamin codon 259 polymorphism influences the risk of human spontaneous abortion. Hum Reprod. 2002;17:3033-6 pubmed
    ..Our results warrant additional investigations addressing the question if vitamin B(12) supplementation in addition to folic acid supplementation may prevent spontaneous abortion in women planning a pregnancy. ..
  4. Bowen R, Wong B, Cole D. Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism. Clin Biochem. 2004;37:128-33 pubmed
    A common polymorphism of the transcobalamin II (TC-II) gene, Pro250Arg, has been implicated as a possible genetic factor in population-based differences in vitamin B(12) metabolism...
  5. Martinelli M, Scapoli L, Palmieri A, Pezzetti F, Baciliero U, Padula E, et al. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. Hum Mutat. 2006;27:294 pubmed
    ..However, because conflicting data exist with regard to the effect of the polymorphism in transcobalamin 2 function or in perturbing plasma levels of key molecules in the folate pathway, further investigation is ..
  6. Aléssio A, Hoehr N, Siqueira L, Bydlowski S, Annichino Bizzacchi J. Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B12 concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children. Thromb Res. 2007;119:571-7 pubmed
    One of the etiologies of hyperhomocysteinemia is decreased vitamin B(12). Genetic variation in the transcobalamin II gene, the transporter of vitamin B(12) to the cells, may produce altered homocysteine levels...
  7. James S, Melnyk S, Jernigan S, Cleves M, Halsted C, Wong D, et al. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:947-56 pubmed
    ..gene-gene interactions were found for relevant genes encoding the reduced folate carrier (RFC 80G > A), transcobalamin II (TCN2 776G > C), catechol-O-methyltransferase (COMT 472G > A), methylenetetrahydrofolate reductase (..
  8. Gueant J, Chabi N, Guéant Rodriguez R, Mutchinick O, Debard R, Payet C, et al. Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2). J Med Genet. 2007;44:363-7 pubmed
    ..Given the dramatic heterogeneity of the 776G allele frequency worldwide, this polymorphism may be prone to a selective pressure or confers an evolutionary advantage in confronting environmental factors, one of which is malaria. ..
  9. Böttiger A, Nilsson T. Pyrosequencing assay for genotyping of the Transcobalamin II 776C>G polymorphism. Scand J Clin Lab Invest. 2007;67:247-51 pubmed
    The 776C>G polymorphism of the Transcobalamin II gene is located in a GC-rich region and TaqMan real-time polymerase chain reaction (PCR) does not yield satisfactory genotyping results...

More Information

Publications150 found, 100 shown here

  1. Fredriksen A, Meyer K, Ueland P, Vollset S, Grotmol T, Schneede J. Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism. Hum Mutat. 2007;28:856-65 pubmed
    ..2756A>G (tHcy), BHMT c.716G>A (DMG), CBS c.844_845ins68 (tHcy, betaine), CBS c.699C>T (tHcy, betaine, cystathionine) and TCN2 c.776C>G (MMA). No associations were observed for the other polymorphisms investigated. ..
  2. Verkleij Hagoort A, van Driel L, Lindemans J, Isaacs A, Steegers E, Helbing W, et al. Genetic and lifestyle factors related to the periconception vitamin B12 status and congenital heart defects: a Dutch case-control study. Mol Genet Metab. 2008;94:112-9 pubmed publisher
    ..We investigated methionine synthase reductase (MTRR) and transcobalamin II (TC) genes and maternal intake and serum concentrations of vitamin B12 in association with CHD risk...
  3. Stanisławska Sachadyn A, Woodside J, Sayers C, Yarnell J, Young I, Evans A, et al. The transcobalamin (TCN2) 776C>G polymorphism affects homocysteine concentrations among subjects with low vitamin B(12) status. Eur J Clin Nutr. 2010;64:1338-43 pubmed publisher
    ..Thus, the TCN2 776C>G polymorphism may contribute to the risk of pathologies associated with a low B(12), and high tHcy phenotype. ..
  4. Miller J, Ramos M, Garrod M, Flynn M, Green R. Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults. Blood. 2002;100:718-20 pubmed
    A common polymorphism (775G>C) in the vitamin B12 transport protein, transcobalamin II (TCII), has been identified in which proline replaces arginine at codon 259...
  5. Swanson D, Pangilinan F, Mills J, Kirke P, Conley M, Weiler A, et al. Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population. Birth Defects Res A Clin Mol Teratol. 2005;73:239-44 pubmed
    ..Low levels of maternal plasma vitamin B(12) and reduced binding of vitamin B(12) by transcobalamin II (TCII) are independent risk factors for NTDs...
  6. Wuerges J, Garau G, Geremia S, Fedosov S, Petersen T, Randaccio L. Structural basis for mammalian vitamin B12 transport by transcobalamin. Proc Natl Acad Sci U S A. 2006;103:4386-91 pubmed
    ..Structural information is used to predict the overall fold of haptocorrin and intrinsic factor and permits a rational approach to the design of new Cbl-based bioconjugates for diagnostic or therapeutic drug delivery. ..
  7. Brouns R, Ursem N, Lindemans J, Hop W, Pluijm S, Steegers E, et al. Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects. Prenat Diagn. 2008;28:485-93 pubmed publisher
    ..0 (1.1-15.4). Other genotypes did not show significant associations. The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects. ..
  8. Linnebank M, Moskau S, Jürgens A, Simon M, Semmler A, Orlopp K, et al. Association of genetic variants of methionine metabolism with methotrexate-induced CNS white matter changes in patients with primary CNS lymphoma. Neuro Oncol. 2009;11:2-8 pubmed publisher
    ..1298A>C (chi(2) = 13.5; p = 0.001; df = 2), and the GG genotype of transcobalamin 2 c.776C>G (chi(2) = 19.73; p < 0.001), in addition to male gender (chi(2) = 11.95; p = 0.001)...
  9. Garrod M, Allen L, Haan M, Green R, Miller J. Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics. Eur J Clin Nutr. 2010;64:503-9 pubmed publisher
    ..It remains to be determined whether the TC C776G polymorphism has a significant effect on the hematological and neurological manifestations of B12 deficiency or on vascular and other morbidities associated with hyperhomocysteinemia. ..
  10. Capodilupo A, Vergaro V, Baldassarre F, Cardone A, Corrente G, Carlucci C, et al. Thiophene-based fluorescent probes with low cytotoxicity and high photostability for lysosomes in living cells. Biochim Biophys Acta. 2015;1850:385-92 pubmed publisher
    ..Two thiophene-based fluorescent dyes, TC1 and TC2, were synthetized as lysosome-specific probes...
  11. Craciun F, Cordero F, Vasile B, Fruth V, Zaharescu M, Atkinson I, et al. Combined use of Mössbauer spectroscopy, XPS, HRTEM, dielectric and anelastic spectroscopy for estimating incipient phase separation in lead titanate-based multiferroics. Phys Chem Chem Phys. 2018;20:14652-14663 pubmed publisher
    ..between a tetragonal phase T1 free of magnetic clusters and a cubic phase, and a lower transition temperature TC2, below which the cubic phase rich in magnetic clusters is transformed into a tetragonal phase T2...
  12. Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat S, et al. Should transcobalamin deficiency be treated aggressively?. J Inherit Metab Dis. 2010;33:223-9 pubmed publisher
    Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells...
  13. Trakadis Y, Alfares A, Bodamer O, Buyukavci M, Christodoulou J, Connor P, et al. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014;37:461-73 pubmed publisher
    ..Most centres adjusted the treatment regimen based on monitoring CBC, total plasma homocysteine, plasma and urine methylmalonic acid, as well as, clinical status. Finally, continuing IM treatment into adulthood appears to be beneficial. ..
  14. Balduino Victorino D, de Godoy M, Goloni Bertollo E, Pavarino Ã. Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis. Dis Markers. 2014;2014:517504 pubmed publisher
    ..Finally, considering MTR c.2756A>G (rs1805087), TC2 c.776C>G (rs1801198), and CBS c...
  15. Benoit C, Stanton A, Tartanian A, Motzer A, McGaughey D, Bond S, et al. Functional and phylogenetic characterization of noncanonical vitamin B12-binding proteins in zebrafish suggests involvement in cobalamin transport. J Biol Chem. 2018;293:17606-17621 pubmed publisher
  16. Martinelli M, Scapoli L, Mattei G, Ugolini G, Montroni I, Zattoni D, et al. A candidate gene study of one-carbon metabolism pathway genes and colorectal cancer risk. Br J Nutr. 2013;109:984-9 pubmed publisher
    ..However, an increased risk of CRC was observed for two variant alleles of SNP mapping on the transcobalamin 2 gene (TCN2): C776G (rs1801198) and c.1026-394T>G (rs7286680)...
  17. Fowler R, Vllasaliu D, Falcone F, Garnett M, Smith B, Horsley H, et al. Uptake and transport of B12-conjugated nanoparticles in airway epithelium. J Control Release. 2013;172:374-381 pubmed publisher
    ..our work demonstrates that the bronchial cell line, Calu-3, expresses the B12-intrinsic factor receptor, the transcobalamin II receptor and the transcobalamin II carrier protein...
  18. Morelli E, Leone E, Cantafio M, Di Martino M, Amodio N, Biamonte L, et al. Selective targeting of IRF4 by synthetic microRNA-125b-5p mimics induces anti-multiple myeloma activity in vitro and in vivo. Leukemia. 2015;29:2173-83 pubmed publisher
    ..Moreover, we provide evidence that miR-125b is downregulated in TC2/3 molecular MM subgroups and in established cell lines...
  19. Anuradha R, Munisankar S, Dolla C, Kumaran P, Nutman T, Babu S. Modulation of CD4+ and CD8+ T-Cell Function by Interleukin 19 and Interleukin 24 During Filarial Infections. J Infect Dis. 2016;213:811-5 pubmed publisher
    ..role of IL-19 and IL-24 in regulating T-cell responses, we examined the frequency of T-helper type 1 (Th1)/Tc1, Th2/Tc2, Th9/Tc9, Th17/Tc17, Th22/Tc22, and Tr1 cells in 26 filariae-infected individuals stimulated with filarial antigen ..
  20. Brodeur T, Robidoux T, Weinstein J, Craft J, Swain S, Marshak Rothstein A. IL-21 Promotes Pulmonary Fibrosis through the Induction of Profibrotic CD8+ T Cells. J Immunol. 2015;195:5251-60 pubmed publisher
    ..These pulmonary CD8(+) T cells differentiate into IL-13-producing Tc2 cells and play a major role in a bleomycin-induced model of fibrosis...
  21. Nashabat M, Maegawa G, Nissen P, Nexo E, Al Shamrani H, Al Owain M, et al. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol. 2017;39:e430-e436 pubmed publisher
    ..Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
  22. Morais M, Ferreira V, Figueira F, Mendes F, Raposinho P, Santos I, et al. Technetium-99m complexes of l-arginine derivatives for targeting amino acid transporters. Dalton Trans. 2017;46:14537-14547 pubmed publisher
    ..of stable complexes of the type fac-[99mTc(CO)3(k3-L)]+ (Tc1, L = L1; Tc2, L = L2) and of the respective surrogates Re1 and Re2...
  23. Namour F, Helfer A, Quadros E, Alberto J, Bibi H, Orning L, et al. Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. Br J Haematol. 2003;123:915-20 pubmed
    ..Until now, genetic studies have been reported in only five patients with TC deficiency and the molecular defect was different in each of them, which gives evidence for a genetic heterogeneity of the disease. ..
  24. Hartana C, Ahlén Bergman E, Zirakzadeh A, Krantz D, Winerdal M, Winerdal M, et al. Urothelial bladder cancer may suppress perforin expression in CD8+ T cells by an ICAM-1/TGFβ2 mediated pathway. PLoS ONE. 2018;13:e0200079 pubmed publisher
    ..The majority of perforin-deficient CD8+ T cells are effector memory T (TEM) cells with exhausted Tc2 cell phenotype, judged by the presence of PD-1 and GATA-3...
  25. Nunes P, Morais G, Palma E, Silva F, Oliveira M, Ferreira V, et al. Isostructural Re(I)/(99m)Tc(I) tricarbonyl complexes for cancer theranostics. Org Biomol Chem. 2015;13:5182-94 pubmed publisher
    ..and Tc4 presented a faster excretion, as they undergo metabolic transformations, in contrast to complexes Tc1 and Tc2. In summary, our results show that benzothiazole-containing Re(I)/(99m)Tc(I) tricarbonyl complexes stabilized by ..
  26. Hebbar P, Alkayal F, Nizam R, Melhem M, Elkum N, John S, et al. The TCN2 variant of rs9606756 [Ile23Val] acts as risk loci for obesity-related traits and mediates by interacting with Apo-A1. Obesity (Silver Spring). 2017;25:1098-1108 pubmed publisher
    ..The TCN2 variant acts as a risk factor for WC in the Arab population. The variant mediates obesity-related anthropometric traits via interactions with Apo-A1/high-density lipoprotein or TP53. ..
  27. Cao P, Wang Z, Schleimer R, Liu Z. Pathophysiologic mechanisms of chronic rhinosinusitis and their roles in emerging disease endotypes. Ann Allergy Asthma Immunol. 2018;: pubmed publisher
    ..immune response deviation into type 1 (orchestrated by ILC1s, Tc1 and Th1 cells), type 2 (characterized by ILC2s, Tc2 and Th2 cells), and type 3 (mediated by ILC3s, Tc17 and Th17 cells) responses...
  28. Sagarkar S, Bhardwaj P, Storck V, Devers Lamrani M, Martin Laurent F, Kapley A. s-triazine degrading bacterial isolate Arthrobacter sp. AK-YN10, a candidate for bioaugmentation of atrazine contaminated soil. Appl Microbiol Biotechnol. 2016;100:903-13 pubmed publisher
    ..Draft genome sequencing revealed similarity to pAO1, TC1, and TC2 catabolic plasmids of the Arthrobacter taxon...
  29. Kong Y, Wang Y, Cao X, Song Y, Chen Y, Sun Y, et al. Aberrant T cell responses in the bone marrow microenvironment of patients with poor graft function after allogeneic hematopoietic stem cell transplantation. J Transl Med. 2017;15:57 pubmed publisher
    ..of T cell subsets in the bone marrow (BM) immune microenvironment, including Th17, Tc17, Th1, Tc1, Th2, Tc2 cells and regulatory T cells (Tregs), are involved in the pathogenesis of PGF remains unclear...
  30. Wang B, Liu M, Wang Y, Dai J, Tao J, Wang S, et al. Association between SNPs in genes involved in folate metabolism and preterm birth risk. Genet Mol Res. 2015;14:850-9 pubmed publisher
    ..The combined wild-type genotype MTHFD-G1958A, MTR-A2756G, MTRR-A66G, MTHFR-A1298C, NFE2L2-ins1+C11108T, and RFC1-G80A may decrease the risk of preterm birth. ..
  31. Semmler A, Simon M, Moskau S, Linnebank M. The methionine synthase polymorphism c.2756A>G alters susceptibility to glioblastoma multiforme. Cancer Epidemiol Biomarkers Prev. 2006;15:2314-6 pubmed
    ..We investigated MTR c.2756A>G, MTHFR c.677C>T, and a third polymorphism, transcobalamin 2 c.776C>G (P259R), for a potential association with the formation of glioblastoma multiforme. The MTR c...
  32. Vlastos F, Hillas G, Vidal P, Lacomme S, Galateau Salle F, Vollmer E, et al. Survey and biological insights of pemetrexed-related therapeutic improvement in mesothelioma: The Nancy Centre of Biological Resources' Mesothelioma Cohort. J Thorac Oncol. 2009;4:1259-63 pubmed publisher
    ..We also studied a potential link between specific single nucleotide polymorphisms of transcobalamin II (TCII) gene and susceptibility to both asbestos and pemetrexed...
  33. Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, et al. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. Mol Genet Metab. 2016;117:363-8 pubmed publisher
    ..Thus, the NGS gene panel allowed for the presumptive diagnosis of 8 additional patients for which a diagnosis was not made by the functional assays. ..
  34. Salvarese N, Spolaore B, Marangoni S, Pasin A, Galenda A, Tamburini S, et al. Transglutaminase-mediated conjugation and nitride-technetium-99m labelling of a bis(thiosemicarbazone) bifunctional chelator. J Inorg Biochem. 2018;183:18-31 pubmed publisher
    ..sup>99mTc1) and [99mTc][Tc(N)(ATSM/A-ε-Ahx-SP)] (99mTc2)...
  35. Knobloch J, Yakin Y, Körber S, Grensemann B, Bendella Z, Boyaci N, et al. Simvastatin requires activation in accessory cells to modulate T-cell responses in asthma and COPD. Eur J Pharmacol. 2016;788:294-305 pubmed publisher
    ..macrophages (AM) or in peripheral blood mononuclear cells (PBMCs), were ex vivo activated towards Th1/Tc1 or Th2/Tc2 and incubated with simvastatin...
  36. Salazar Castañón V, Juarez Avelar I, Legorreta Herrera M, Govezensky T, Rodriguez Sosa M. Co-infection: the outcome of Plasmodium infection differs according to the time of pre-existing helminth infection. Parasitol Res. 2018;117:2767-2784 pubmed publisher
    ..At 2 (Tc2) or 8 (Tc8) weeks post-infection, mice were intravenously infected with 1 × 103 Plasmodium yoelii (..
  37. Horn L, Gettinger S, Gordon M, Herbst R, Gandhi L, Felip E, et al. Safety and clinical activity of atezolizumab monotherapy in metastatic non-small-cell lung cancer: final results from a phase I study. Eur J Cancer. 2018;101:201-209 pubmed publisher
    ..was 50% (95% confidence interval [CI], 28%-72%), 33% (20%-48%), 29% (18%-41%) and 11% (1%-35%) for the TC3 or IC3, TC2/3 or IC2/3, TC1/2/3 or IC1/2/3 and TC0 and IC0 subgroups, respectively. All-patient ORR was 23% (95% CI, 14%-33%)...
  38. Bonilla C, Lawlor D, Taylor A, Gunnell D, Ben Shlomo Y, Ness A, et al. Vitamin B-12 status during pregnancy and child's IQ at age 8: a Mendelian randomization study in the Avon longitudinal study of parents and children. PLoS ONE. 2012;7:e51084 pubmed publisher
    ..Our findings suggest that maternal vitamin B-12 may not have an important effect on offspring cognitive ability. However, further examination of this issue is warranted. ..
  39. Kim H, Lee J, Nam S, Ock C, Moon J, Yoo C, et al. Association of PD-L1 Expression with Tumor-Infiltrating Immune Cells and Mutation Burden in High-Grade Neuroendocrine Carcinoma of the Lung. J Thorac Oncol. 2018;13:636-648 pubmed publisher
    ..follows: TC0 and IC0 were defined as PD-L1 expression less than 1%, TC1 and IC1 as at least 1% but less than 10%, TC2 and IC2 as 10% or more but less than 50%, and TC3 and IC3 as 50% or more...
  40. Zhao X, Long J, Liang F, Liu N, Sun Y, Xi Y. Vaccination with a Novel Antigen-specific Tolerizing DNA Vaccine Encoding CCOL2A1 Protects Rats from Experimental Rheumatoid Arthritis. Hum Gene Ther. 2018;: pubmed publisher
    ..with pcDNA-CCOL2A1 markedly decreased serum contens of anti-CII IgG antibodies, induced Th1-to-Th2 and Tc1-to-Tc2 shifts, and decreased the percentages of CD4+CD29+ and Th17 T cells...
  41. Chen J, Lu W, Zhao M, Cao X, Jiang Y, Jin X, et al. Reactive oxygen species mediated T lymphocyte abnormalities in an iron-overloaded mouse model and iron-overloaded patients with myelodysplastic syndromes. Ann Hematol. 2017;96:1085-1095 pubmed publisher
    ..showed that iron overload could reduce the percentage of CD3+ T cells and the ratio of Th1/Th2 and Tc1/Tc2 but increase the percentage of regulatory T (Treg) cells and the ratio of CD4/CD8...
  42. Spigel D, Chaft J, Gettinger S, Chao B, Dirix L, Schmid P, et al. FIR: Efficacy, Safety, and Biomarker Analysis of a Phase II Open-Label Study of Atezolizumab in PD-L1-Selected Patients With NSCLC. J Thorac Oncol. 2018;13:1733-1742 pubmed publisher
    ..Patients with PD-L1 TC2/3 (PD-L1 staining on ≥5% of TC) or IC2/3 tumors (PD-L1 staining on ≥5% of IC; determined by SP142 PD-L1 ..
  43. Barbosa P, Stabler S, Trentin R, Carvalho F, Luchessi A, Hirata R, et al. Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women. Clin Chim Acta. 2008;388:139-47 pubmed
    ..The genotypes for MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, TC2 C776G, TC2 A67G and RFC1 A80G gene polymorphisms were identified by PCR-RFLP...
  44. Schrempf W, Eulitz M, Neumeister V, Siegert G, Koch R, Reichmann H, et al. Utility of measuring vitamin B12 and its active fraction, holotranscobalamin, in neurological vitamin B12 deficiency syndromes. J Neurol. 2011;258:393-401 pubmed publisher
    ..Neither test can be recommended to diagnose VitB(12) deficiency in subjects with neuropsychiatric disorders. ..
  45. Linnebank M, Moskau S, Kowoll A, Semmler A, Bangard C, Vogt Schaden M, et al. Association of transcobalamin c. 776C>G with overall survival in patients with primary central nervous system lymphoma. Br J Cancer. 2012;107:1840-3 pubmed publisher
    ..Younger age (Wald=8.9; P=0.003) and the wild-type C (CC) allele of the genotype transcobalamin c (Tc2). 776C>G (Wald=6.7; P=0...
  46. Marini N, Yang W, Asrani K, Witte J, Rine J, Lammer E, et al. Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate. Am J Med Genet A. 2016;170:2777-2787 pubmed publisher
    ..8, 95%CI?=?1.2-6.3). This comprehensive study provides further direction on candidate loci to help disentangle the folate-related developmental phenomena in human clefting risk. © 2016 Wiley Periodicals, Inc. ..
  47. Giusti B, Saracini C, Bolli P, Magi A, Sestini I, Sticchi E, et al. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. J Med Genet. 2008;45:721-30 pubmed publisher
    ..Our findings offer new insights into the pathogenesis of AAA. ..
  48. Williams D, Flood M. Capillary tone: cyclooxygenase, shear stress, luminal glycocalyx, and hydraulic conductivity (Lp). Physiol Rep. 2015;3: pubmed publisher
    ..Three distinct responses of Lp to indomethacin (TC2) were demonstrated (TC1 and TC2 medians: Test Subgroup 1, 3.0 vs. 1.8; Test Subgroup 2, 18.2 vs. 2...
  49. Wang Y, Kong Y, Song Y, Han W, Zhang Y, Zhang X, et al. Increased Type 1 Immune Response in the Bone Marrow Immune Microenvironment of Patients with Poor Graft Function after Allogeneic Hematopoietic Stem Cell Transplantation. Biol Blood Marrow Transplant. 2016;22:1376-1382 pubmed publisher
    ..The Th1, Th2, Tc1, Tc2, and active phenotypes were analyzed by flow cytometry...
  50. Della Bella C, Benagiano M, De Gennaro M, Gomez Morales M, Ludovisi A, D Elios S, et al. T-cell clones in human trichinellosis: Evidence for a mixed Th1/Th2 response. Parasite Immunol. 2017;39: pubmed publisher
    ..In the series of the 11 TsES-specific CD8+ T-cell clones, 18% were Tc2, 45% Tc0 and 36% Tc1...
  51. Li N, Rosenblatt D, Kamen B, Seetharam S, Seetharam B. Identification of two mutant alleles of transcobalamin II in an affected family. Hum Mol Genet. 1994;3:1835-40 pubmed
    b>Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological ..
  52. Li N, Seetharam S, Lindemans J, Alpers D, Arwert F, Seetharam B. Isolation and sequence analysis of variant forms of human transcobalamin II. Biochim Biophys Acta. 1993;1172:21-30 pubmed
    Two cDNA clones (1.9 kb and 1.5 kb, respectively) encoding full length human TC II have been isolated from a human endothelial cell cDNA library and sequenced...
  53. Biselli J, Brumati D, Frigeri V, Zampieri B, Goloni Bertollo E, Pavarino Bertelli E. A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology. Sao Paulo Med J. 2008;126:329-32 pubmed
    ..the A80G polymorphism of the reduced folate carrier 1 (RFC1) gene and the C776G polymorphism of the transcobalamin 2 (TC2) gene as maternal risk factors for DS among Brazilian women...
  54. Cascalheira J, Gonçalves M, Barroso M, Castro R, Palmeira M, Serpa A, et al. Association of the transcobalamin II gene 776C → G polymorphism with Alzheimer's type dementia: dependence on the 5, 10-methylenetetrahydrofolate reductase 1298A → C polymorphism genotype. Ann Clin Biochem. 2015;52:448-55 pubmed publisher
    Decreased serum concentrations of vitamin B12 are associated with Alzheimer's type dementia. The transcobalamin II gene (TCN2) 776C → G polymorphism affects transcobalamin II function as a carrier of vitamin B12 and might modify ..
  55. Yang Q, Cheng X, Wang Y, Wang B, Wang Z, Gao S. Two-step magnetic switching in a mononuclear iron(II) complex around room temperature. Dalton Trans. 2015;44:8938-41 pubmed publisher
    ..It displays a new example of two-step SCO with Tc1↓ = 250 K, Tc1↑ = 260 K and Tc2 = 295 K.
  56. Platica O, Janeczko R, Quadros E, Regec A, Romain R, Rothenberg S. The cDNA sequence and the deduced amino acid sequence of human transcobalamin II show homology with rat intrinsic factor and human transcobalamin I. J Biol Chem. 1991;266:7860-3 pubmed
    The cellular uptake of cobalamin (Cbl, vitamin B12) is mediated by transcobalamin II (TCII), a plasma protein that binds Cbl and is secreted by human umbilical vein endothelial (HUVE) cells...
  57. Mills J, Carter T, Kay D, Browne M, Brody L, Liu A, et al. Folate and vitamin B12-related genes and risk for omphalocele. Hum Genet. 2012;131:739-46 pubmed publisher
    ..Our data, if confirmed, suggest that supplements containing both folic acid and vitamin B12 may be beneficial in preventing omphaloceles. ..
  58. Annunziato F, Romagnani C, Romagnani S. The 3 major types of innate and adaptive cell-mediated effector immunity. J Allergy Clin Immunol. 2015;135:626-35 pubmed publisher
    ..Type 2 immunity consists of GATA-3(+) ILC2s, TC2 cells, and TH2 cells producing IL-4, IL-5, and IL-13, which induce mast cell, basophil, and eosinophil activation, ..
  59. Czarnowicki T, Gonzalez J, Shemer A, Malajian D, Xu H, Zheng X, et al. Severe atopic dermatitis is characterized by selective expansion of circulating TH2/TC2 and TH22/TC22, but not TH17/TC17, cells within the skin-homing T-cell population. J Allergy Clin Immunol. 2015;136:104-115.e7 pubmed publisher
    ..We measured increased TH2/TC2/IL-13(+) and TH22/TC22/IL-22(+) populations (P < ...
  60. Mills J, Druschel C, Pangilinan F, Pass K, Cox C, Seltzer R, et al. Folate-related genes and omphalocele. Am J Med Genet A. 2005;136:8-11 pubmed
    ..MTHFR), methylenetetrahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls...
  61. Lahner E, Gentile G, Purchiaroni F, Mora B, Simmaco M, Annibale B. Single nucleotide polymorphisms related to vitamin B12 serum levels in autoimmune gastritis patients with or without pernicious anaemia. Dig Liver Dis. 2015;47:285-90 pubmed publisher
  62. Ma J, Shi L, Deng Y, Wang H, Cao P, Long X, et al. CD8(+) T cells with distinct cytokine-producing features and low cytotoxic activity in eosinophilic and non-eosinophilic chronic rhinosinusitis with nasal polyps. Clin Exp Allergy. 2016;46:1162-75 pubmed publisher
    ..Compared with controls, elevated percentages of total CD8(+) T cells and cytotoxic T lymphocyte (Tc) 1 (IFN-?(+) ), Tc2 (IL-4(+) ), and Tc17 (IL-17A(+) ) cell subset, and decreased percentages of FOXP3(+) CD8(+) regulatory T cells, ..
  63. Gu W, Zhang Q, Zhu W, Guo Y, Zhang L. [Imbalance of Tc and Th in Peripheral Blood of Patients with Systemic Lupus Erythematosus and Its Significance]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016;24:1533-1538 pubmed publisher
    To investigate the imbalance of Tc1/Tc2,Th1/Th2 and Tc/Th in patients with systemic lupus erythematosus(SLE) and its relationship with the clinical stages of SLE...
  64. Malinowska K, Morawiec Sztandera A, Majsterek I, Kaczmarczyk D. TC2 C776G polymorphism studies in patients with oral cancer in the Polish population. Pol J Pathol. 2016;67:277-282 pubmed publisher
    ..The aim of the study was to determine the risk of oral cancer associated with the TC2 C776G polymorphism, as determined in 119 patients...
  65. Haberle J, Pauli S, Berning C, Koch H, Linnebank M. TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. J Hum Genet. 2009;54:331-4 pubmed publisher
    b>Transcobalamin II (TC II) is a plasma transport protein for cobalamin. TC II deficiency can lead to infant megaloblastic anemia, failure to thrive and to neurological complications...
  66. Al Dirbashi O, McIntosh N, Chakraborty P. Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias. J Med Screen. 2017;24:58-61 pubmed publisher
    ..there were 72 neonates not affected, 20 with maternal B12 deficiency, and two incidental finding (transcobalamin II and unclassified Cbl defect). 2-Methylcitric acid was analyzed in all 103 samples and ranged between 0...
  67. Castro R, Barroso M, Rocha M, Esse R, Ramos R, Ravasco P, et al. The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations. Clin Biochem. 2010;43:645-9 pubmed publisher
    ..Around 30% of circulating total B(12) levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction...
  68. Hobbs C, Cleves M, Karim M, Zhao W, MacLeod S. Maternal folate-related gene environment interactions and congenital heart defects. Obstet Gynecol. 2010;116:316-22 pubmed publisher
    ..Among women who smoked, those carrying a TCII CG or GG genotype were 1...
  69. Zhang K, Xu P, Sowers J, Machuca D, Mirfattah B, Herring J, et al. Proteome Analysis of Hypoxic Glioblastoma Cells Reveals Sequential Metabolic Adaptation of One-Carbon Metabolic Pathways. Mol Cell Proteomics. 2017;16:1906-1921 pubmed publisher
    ..We conclude that hypoxia induces sequential metabolic responses of one-carbon metabolism in tumor cells. Our mass spectrometry data are available via ProteomeXchange with identifiers PXD005487 (TMT-labeling) and PXD007280 (label-free). ..
  70. Quadros E, Sai P, Rothenberg S. Functional human transcobalamin II isoproteins are secreted by insect cells using the baculovirus expression system. Blood. 1993;81:1239-45 pubmed
    b>Transcobalamin II (TCII) is a cobalamin (Cbl, vitamin B12)-binding protein in mammalian plasma that facilitates the cellular uptake of the vitamin...
  71. Altmäe S, Stavreus Evers A, Ruiz J, Laanpere M, Syvänen T, Yngve A, et al. Variations in folate pathway genes are associated with unexplained female infertility. Fertil Steril. 2010;94:130-7 pubmed publisher
    ..To investigate associations between folate-metabolizing gene variations, folate status, and unexplained female infertility...
  72. Matteini A, Walston J, Bandeen Roche K, Arking D, Allen R, Fried L, et al. Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. J Nutr Health Aging. 2010;14:73-7 pubmed
    ..Further studies to determine the biological role of functional TCN2 polymorphisms in frailty are needed. ..
  73. Nissen P, Nordwall M, Hoffmann Lücke E, Sorensen B, Nexo E. Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents. J Inherit Metab Dis. 2010;33 Suppl 3:S269-74 pubmed publisher
  74. Li H, Zhang F, Deng D. Relationship between UV-irradiated HaCaT cell cytokines and Th1/Th2 imbalance. Genet Mol Res. 2015;14:7976-85 pubmed publisher
    We have previously found that an imbalance of Tc1/Tc2 T cell subtypes in vivo impacts the development of photodermatitis...
  75. Tsiraki M, Savvaidis I. The effects of citrus extract (Citrox©) on the naturally occurring microflora and inoculated pathogens, Bacillus cereus and Salmonella enterica, in a model food system and the traditional Greek yogurt-based salad Tzatziki. Food Microbiol. 2016;53:150-5 pubmed publisher
    The antimicrobial effect of citrus extract (at 1 mL/kg [TC1] and 2 mL/kg [TC2]) on the naturally occurring microflora and inoculated pathogens (Bacillus cereus and Salmonella enterica, at ca...
  76. Sawaengsri H, Bergethon P, Qiu W, Scott T, Jacques P, Selhub J, et al. Transcobalamin 776C?G polymorphism is associated with peripheral neuropathy in elderly individuals with high folate intake. Am J Clin Nutr. 2016;104:1665-1670 pubmed
    ..33). The TCN2 776C?G polymorphism is associated with increased odds of peripheral neuropathy in the elderly, even with a normal vitamin B-12 status, especially if their folate intake is >2 times the Recommended Dietary Allowance. ..
  77. Li J, Yan Y, Meng Z, Liu S, Beck P, Ghosh S, et al. Microscopic Colitis Evolved Into Inflammatory Bowel Diseases Is Characterized by Increased Th1/Tc1 Cells in Colonic Mucosal Lamina Propria. Dig Dis Sci. 2017;62:2755-2767 pubmed publisher
    ..subsets characterized by key cytokines and master transcription factors (IFN? and T-bet for Th1/Tc1, GATA-3 for Th2/Tc2, IL-17 and RORc for Th17/Tc17, FoxP3 for Treg/Tcreg) as well as TNF?+ cells (partly representing Th1)...
  78. Bosco P, Guéant Rodriguez R, Anello G, Spada R, Romano A, Fajardo A, et al. Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily. Thromb Haemost. 2006;96:154-9 pubmed
    ..The neutral influence of these polymorphisms may be explained by adequate status in folate and vitamin B12. Other factors underlying the increased t-Hcys need further investigations. ..
  79. Kurnat Thoma E, Pangilinan F, Matteini A, Wong B, Pepper G, Stabler S, et al. Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women. Biol Res Nurs. 2015;17:444-54 pubmed publisher
    ..significant when corrected for multiple testing, eight single nucleotide polymorphisms (SNPs) in two genes, transcobalamin II (TCN2) and the transcobalamin II-receptor (TCblR), were found to influence several clinical traits of ..
  80. Carranza N, Bonta H, Gualtieri A, Rojas M, Galli F, Caride F. Alveolar dimensional changes relevant to implant placement after minimally traumatic tooth extraction with primary closure. Acta Odontol Latinoam. 2016;29:105-114 pubmed
    ..extraction, two CT scans were performed; the first within 24 hours postextraction (TC1) and the second 6 months (TC2) later...
  81. Song J, Gao Y, Zhou W, Yang C, Xu Y, Ping B, et al. [Immunomodulatory effects of human amniotic versus bone marrow-derived mesenchymal stem cells on peripheral blood T lymphocytes in vitro]. Nan Fang Yi Ke Da Xue Xue Bao. 2017;37:780-785 pubmed
    ..Co-culture with either hAMSCs or hBMSCs significantly increased the proportions of Treg, Th2 and Tc2 and decreased Th1 and Tc1 cell subsets in the PBMCs as compared with the PBMCs cultured alone (P<0...
  82. Qian L, Quadros E, Regec A, Zittoun J, Rothenberg S. Congenital transcobalamin II deficiency due to errors in RNA editing. Blood Cells Mol Dis. 2002;28:134-42; discussion 143-5 pubmed
    b>Transcobalamin II (TCII) is a plasma protein essential for the transport and cellular uptake of vitamin B12 (B12; cobalamin, Cbl)...
  83. Boyles A, Billups A, Deak K, Siegel D, Mehltretter L, Slifer S, et al. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environ Health Perspect. 2006;114:1547-52 pubmed
    ..28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-..
  84. Serefhanoglu S, Aydogdu I, Kekilli E, Ilhan A, Kuku I. Measuring holotranscobalamin II, an early indicator of negative vitamin B12 balance, by radioimmunoassay in patients with ischemic cerebrovascular disease. Ann Hematol. 2008;87:391-5 pubmed
    ..Furthermore, measurement of serum holoTC II looks promising as a first-line of tests for diagnosing early vitamin B12 deficiency. ..
  85. Chen M, Peyrin Biroulet L, Xia B, Guéant Rodriguez R, Bronowicki J, Bigard M, et al. Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China. BMC Med Genet. 2008;9:78 pubmed publisher
    ..This finding may open new insights, particularly for the potential interest in treating patients carrying the 677TT MTHFR genetic trait and a deficit in folate. ..
  86. Mostowska A, Hozyasz K, Wojcicki P, Dziegelewska M, Jagodzinski P. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. J Med Genet. 2010;47:809-15 pubmed publisher
    ..Polymorphic variants of BHMT and PCYT1A and interactions between genes of choline and folate metabolism might influence the risk of NCL/P in the Polish population. ..
  87. Zheng S, Wu C, Yang W, Xia X, Lin X, Jiang L, et al. An Analysis of Transcobalamin II Gene Polymorphisms and Serum Levels of Homocysteine, Folate and Vitamin B12 in Chinese Patients with Crohn's Disease. Dig Dis. 2017;35:463-471 pubmed publisher
    The study aimed to investigate the association of Crohn's disease (CD) with transcobalamin II (TCN2) polymorphisms and serum homocysteine, folate, and vitamin B12 levels...
  88. Silla Y, Chandamouli B, Maiti S, Sengupta S. A single nucleotide polymorphism in transcobalamin II (I5V) induces structural changes in the protein as revealed by molecular modeling studies. Biochemistry. 2011;50:1396-402 pubmed publisher
    ..Cobalamin is transported to the cells by the transport protein transcobalamin II (TCII), and hence genetic variations (like single nucleotide polymorphisms) in TCII could be perceived to ..
  89. Kim H, Lee B, Jeon Y, Rah H, Lee W, Shin J, et al. Transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion. Am J Reprod Immunol. 2014;72:337-46 pubmed publisher
    The transcobalamin II (TCN2) 776C>G polymorphism has been reported to be a genetic risk factor for idiopathic recurrent spontaneous abortion (RSA)...
  90. Czarnowicki T, Esaki H, Gonzalez J, Malajian D, Shemer A, Noda S, et al. Early pediatric atopic dermatitis shows only a cutaneous lymphocyte antigen (CLA)(+) TH2/TH1 cell imbalance, whereas adults acquire CLA(+) TH22/TC22 cell subsets. J Allergy Clin Immunol. 2015;136:941-951.e3 pubmed publisher
    ..cell subsets, as well as IFN-γ, IL-13, IL-9, IL-17, and IL-22 cytokines, defining TH1/cytotoxic T (TC) 1, TH2/TC2, TH9/TC9, TH17/TC17, and TH22/TC22 populations in CD4 and CD8 cells, respectively...
  91. Martinelli M, Girardi A, Cura F, Nouri N, Pinto V, Carinci F, et al. Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway. Arch Oral Biol. 2016;61:79-82 pubmed publisher
    ..Overall, these results indicate that NSCL/P risk factors differ among populations and confirm the importance of testing putative susceptibility variants in different genetic backgrounds. ..