transcobalamin II

Summary

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

Publications117 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. 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...
  10. 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 Non-Small-Cell Lung Cancer. J Thorac Oncol. 2018;: 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 ..
  11. 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...
  12. 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. ..
  13. 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. ..
  14. 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. ..
  15. 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...
  16. 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...
  17. 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...
  18. 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 ..
  19. 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...
  20. 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...
  21. 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 ..
  22. 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.
  23. 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...
  24. 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. ..
  25. 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, ..
  26. 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 < ...
  27. 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...
  28. 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
  29. 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, ..
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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). ..
  37. 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...
  38. 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...
  39. 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. ..
  40. 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
  41. 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...
  42. 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...
  43. 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. ..
  44. 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)...
  45. 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. ..
  46. 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 ..
  47. 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...
  48. 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...
  49. 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)...
  50. 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-..
  51. 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. ..
  52. 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. ..
  53. 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. ..
  54. 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...
  55. 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 ..
  56. 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)...
  57. 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...
  58. 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. ..
  59. Fehrenbacher L, Spira A, Ballinger M, Kowanetz M, Vansteenkiste J, Mazieres J, et al. Atezolizumab versus docetaxel for patients with previously treated non-small-cell lung cancer (POPLAR): a multicentre, open-label, phase 2 randomised controlled trial. Lancet. 2016;387:1837-46 pubmed publisher
    ..was scored by immunohistochemistry in tumour cells (as percentage of PD-L1-expressing tumour cells TC3≥50%, TC2≥5% and <50%, TC1≥1% and <5%, and TC0<1%) and tumour-infiltrating immune cells (as percentage ..
  60. Zheng W, Zhang B, Shen Z, Yin M, Cao Y, Song H. Biological effects of bone marrow mesenchymal stem cells on hepatitis B virus in vitro. Mol Med Rep. 2017;15:2551-2559 pubmed publisher
    ..BM‑MSCs inhibited the expression of HBV DNA and enhanced the clearance of HBV, which may have been mediated by the regulation of the Tc1/Tc2 cell balance and the mode of cytokine secretion to modulate cytokine expression.
  61. Chang J, Zhong R, Tian J, Li J, Zhai K, Ke J, et al. Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma. Nat Genet. 2018;50:338-343 pubmed publisher
    ..0004), most likely due to an enhanced capacity of variant CYP26B1 to catabolize this agent. These findings emphasize the important role of rare coding variants in the development of ESCC. ..
  62. Oussalah A, Levy J, Filhine Trésarrieu P, Namour F, Gueant J. Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies. Am J Clin Nutr. 2017;106:1142-1156 pubmed publisher
    ..Approximately 20-25% of circulating cobalamin binds to transcobalamin 2 (TCN2), which is referred to as active vitamin B-12. The G allele of the TCN2 c...
  63. Eiberg H, Møller N, Mohr J, Nielsen L. Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22. Clin Genet. 1986;29:354-9 pubmed
    The linkage relationships of transcobalamin II (TC2) against 64 other marker systems are studied in a Danish family material (families 604-1505)...
  64. Bibi H, Gelman Kohan Z, Baumgartner E, Rosenblatt D. Transcobalamin II deficiency with methylmalonic aciduria in three sisters. J Inherit Metab Dis. 1999;22:765-72 pubmed
    b>Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor-mediated endocytosis...
  65. Hsu F, Sides E, Mychaleckyj J, Worrall B, Elias G, Liu Y, et al. Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk. Neurology. 2011;77:1543-50 pubmed publisher
    ..Associations with recurrent stroke were evaluated using survival analyses. Five SNPs in the transcobalamin 2 (TCN2) gene were associated with baseline Hcy (false discovery rate [FDR]-adjusted p = 0.049)...
  66. Alam A, Woo J, Schmitz J, Prinz B, Root K, Chen F, et al. Structural basis of transcobalamin recognition by human CD320 receptor. Nat Commun. 2016;7:12100 pubmed publisher
    ..Finally, we demonstrate significantly reduced in vitro affinity of TC for CD320 at low pH, recapitulating the proposed ligand release during the endocytic pathway. ..
  67. Daiger S, Labowe M, Parsons M, Wang L, Cavalli Sforza L. Detection of genetic variation with radioactive ligands. III. genetic polymorphism of transcobalamin II in human plasma. Am J Hum Genet. 1978;30:202-14 pubmed
    We detected genetically determined, electrophoretic variants of vitamin B12 binding proteins, most probably transcobalamin II, in human plasma...
  68. Bose S, Seetharam S, Seetharam B. Membrane expression and interactions of human transcobalamin II receptor. J Biol Chem. 1995;270:8152-7 pubmed
    Antiserum raised to purified 62-kDa human placental transcobalamin II receptor (TC II-R) has been used to study its synthesis and membrane expression...
  69. Regec A, Quadros E, Platica O, Rothenberg S. The cloning and characterization of the human transcobalamin II gene. Blood. 1995;85:2711-9 pubmed
    b>Transcobalamin II (TCII) is a plasma protein that binds vitamin B12 (cobalamin; Cbl) and facilitates the cellular uptake of the vitamin by receptor-mediated endocytosis...
  70. Kalra S, Li N, Seetharam S, Alpers D, Seetharam B. Function and stability of human transcobalamin II: role of intramolecular disulfide bonds C98-C291 and C147-C187. Am J Physiol Cell Physiol. 2003;285:C150-60 pubmed
    The current studies have investigated the role of three disulfide bonds of human transcobalamin II (TC II), a plasma transporter of cobalamin (Cbl; vitamin B12), in its function and stability...
  71. Candito M, Rivet R, Herbeth B, Boisson C, Rudigoz R, Luton D, et al. Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study. Am J Med Genet A. 2008;146A:1128-33 pubmed publisher
    ..Genetic polymorphisms played only a small role. Until folic acid fortification becomes mandatory, all women of reproductive age should consume folic acid in a multivitamin that also contains B12 and B6. ..
  72. Lenz B, Soehngen C, Linnebank M, Heberlein A, Frieling H, Kornhuber J, et al. Genetic polymorphisms relevant for one-carbon metabolism show no effect on homocysteine plasma levels and DNA methylation in alcoholism. Psychiatr Genet. 2009;19:215-6 pubmed publisher
  73. Mitchell L, Long J, Garbarini J, Paluru P, Goldmuntz E. Variants of folate metabolism genes and risk of left-sided cardiac defects. Birth Defects Res A Clin Mol Teratol. 2010;88:48-53 pubmed publisher
    ..However, even larger studies and more comprehensive evaluations of the folate pathway genes are required to fully explore the relationship between folate and left-sided cardiac defects. ..
  74. Collin S, Metcalfe C, Refsum H, Lewis S, Smith G, Cox A, et al. Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer. Cancer Epidemiol Biomarkers Prev. 2010;19:2833-8 pubmed publisher
    ..Long-term follow-up is needed to test associations with metastases and mortality, and the observed genetic effects require replication. ..
  75. Bokor S, Meirhaeghe A, Ruiz J, Zaccaria M, Widhalm K, Gonzalez Gross M, et al. Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents. Int J Pediatr Obes. 2011;6:e336-44 pubmed publisher
    ..Further investigations are necessary to confirm the possible association between the rs1801394 variant of MTRR and obesity. ..
  76. Riedel B, Molloy A, Meyer K, Fredriksen A, Ulvik A, Schneede J, et al. Transcobalamin polymorphism 67A->G, but not 776C->G, affects serum holotranscobalamin in a cohort of healthy middle-aged men and women. J Nutr. 2011;141:1784-90 pubmed publisher
    Two polymorphic variants in the gene coding for transcobalamin II (TCN2), TCN2 776C- > G and TCN2 67A- > G, may alter serum holotranscobalamin (holoTC), which in turn may affect cellular uptake of cobalamin (Cbl) and thereby Cbl ..
  77. Sysel A, Valli V, Nagle R, Bauer J. Immunohistochemical quantification of the vitamin B12 transport protein (TCII), cell surface receptor (TCII-R) and Ki-67 in human tumor xenografts. Anticancer Res. 2013;33:4203-12 pubmed
    ..The present pilot study quantified the immunohistochemical expression of vitamin B12 transport protein (Transcobalamin II; TCII), cell surface receptor (Transcobalamin II-R; TCII-R) and proliferation protein (Ki-67) in human tumor ..
  78. Bartakke S, Saindane A, Udgirkar V, Shrividya S, Bhavani G, Girisha K. Novel Mutation in an Indian Patient with Transcobalamin II Deficiency. Indian J Pediatr. 2015;82:1073-4 pubmed publisher
  79. Zheng S, Yang W, Wu C, Sun L, Lin D, Lin X, et al. Association of ulcerative colitis with transcobalamin II gene polymorphisms and serum homocysteine, vitamin B12, and folate levels in Chinese patients. Immunogenetics. 2017;69:421-428 pubmed publisher
    ..We attempted to explore the relationship of UC with transcobalamin II (TCN2) gene polymorphisms and serum homocysteine, vitamin B12, and folate levels in Chinese ..
  80. Arwert F, Porck H, Frater Schröder M, Brahe C, Geurts van Kessel A, Westerveld A, et al. Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Hum Genet. 1986;74:378-81 pubmed
    Human transcobalamin II (TC2), a vitamin B12 binding serum protein, is synthesized and secreted into the medium by cells growing in vitro. Mouse-man somatic cell hybrids were analyzed in order to map the locus of TC2...
  81. Quadros E, Rothenberg S, Pan Y, Stein S. Purification and molecular characterization of human transcobalamin II. J Biol Chem. 1986;261:15455-60 pubmed
    b>Transcobalamin II (TCII) has been purified from Cohn fraction III of human plasma by batchwise binding to and then elution from carboxymethyl-Sephadex, affinity chromatography using photo-labile aminopropyl cobalamin coupled to activated ..
  82. Frater Schröder M, Porck H, Eriksson A, Daiger S, Cavalli Sforza L. Standardization of nomenclature for transcobalamin II variants. Hum Genet. 1982;61:165-6 pubmed
  83. Regec A, Quadros E, Rothenberg S. Transcobalamin II expression is regulated by transcription factor(s) binding to a hexameric sequence (TGGTCC) in the promoter region of the gene. Arch Biochem Biophys. 2002;407:202-8 pubmed
    b>Transcobalamin II (TCII) is a plasma protein that transports cobalamin to tissues for cellular uptake by receptor-mediated endocytosis. Human umbilical vein endothelial cells (HUVEC) in culture constitutively express TCII...
  84. Curtin K, Slattery M, Ulrich C, Bigler J, Levin T, Wolff R, et al. Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet. Carcinogenesis. 2007;28:1672-9 pubmed
    ..Candidate polymorphisms in methylenetetrahydrofolate reductase (MTHFR), thymidylate synthase (TS), transcobalamin II (TCNII), methionine synthase (MTR), reduced folate carrier (RFC), methylenetetrahydrofolate dehydrogenase 1 (..
  85. Giusti B, Sestini I, Saracini C, Sticchi E, Bolli P, Magi A, et al. High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism. Biochem Genet. 2008;46:406-23 pubmed publisher
    ..2% concordance. We also performed a haplotype analysis. This approach could represent a useful tool to investigate the genotype-phenotype correlation and the association of these genes with hyperhomocysteinemia and correlated diseases. ..
  86. Semmler A, Simon M, Moskau S, Linnebank M. Polymorphisms of methionine metabolism and susceptibility to meningioma formation: laboratory investigation. J Neurosurg. 2008;108:999-1004 pubmed publisher
    ..2756A > G, reduced folate carrier 1 c.80G > A, cystathionine beta-synthase (CBS) c.844_855ins68 and transcobalamin 2 c.776C > G. The variant CBS c...
  87. Meyer K, Fredriksen A, Ueland P. MALDI-TOF MS genotyping of polymorphisms related to 1-carbon metabolism using common and mass-modified terminators. Clin Chem. 2009;55:139-49 pubmed publisher
    ..This was demonstrated with 20 polymorphisms involved in 1-carbon metabolism. ..
  88. Giusti B, Saracini C, Bolli P, Magi A, Martinelli I, Peyvandi F, et al. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. Thromb Haemost. 2010;104:231-42 pubmed publisher
    ..This study identifies significant genetic associations between premature ischaemic stroke and haplotypes in BHMT, CBS, FOLH1, MTR, PON2, TCN2 and TYMS genes involved in methionine metabolism. ..
  89. Garg G, Kumar J, Tanwar V, Basak T, Seth S, Karthikeyan G, et al. Polymorphisms in transcobalamin II gene is associated with coronary artery disease in Indian population. Biomarkers. 2012;17:119-24 pubmed publisher
    Transcobalamin (TCII) is a key enzyme involved in intracellular transport of vitamin B12. We had earlier shown that vitamin B12 levels are associated with Coronary Artery Disease (CAD)...
  90. Świerkot J, Ślęzak R, Karpiński P, Pawłowska J, Noga L, Szechiński J, et al. Associations between single-nucleotide polymorphisms of RFC-1, GGH, MTHFR , TYMS, and TCII genes and the efficacy and toxicity of methotrexate treatment in patients with rheumatoid arthritis. Pol Arch Med Wewn. 2015;125:152-61 pubmed
    ..80G>A, GGH c.-401C>T, MTHFR c.1298A>C and c.677C>T, TYMS 2R/3R, TYMS 6-bp deletion, and TCII c.593T>C) were examined for their effects on MTX efficacy and toxicity...
  91. Ãœnal Å, Rupar T, Yetgin S, Yaralı N, Dursun A, Gürsel T, et al. Transcobalamin II Deficiency in Four Cases with Novel Mutations. Turk J Haematol. 2015;32:317-22 pubmed publisher
    b>Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ..