| Transcobalamin receptor gene polymorphisms and mutation in an elderly population. | Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
McCaddon A, Carr DF, Peter H, Moat SJ, Quadros EV. | 05/23/2023 |
| Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. | Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC., Free PMC Article | 04/16/2022 |
| Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. | Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
Boachie J, Adaikalakoteswari A, Goljan I, Samavat J, Cagampang FR, Saravanan P., Free PMC Article | 04/24/2021 |
| 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 |
| Cellular uptake of vitamin B12: Role and fate of TCblR/CD320, the transcobalamin receptor. | Cellular uptake of vitamin B(12): Role and fate of TCblR/CD320, the transcobalamin receptor.
Gick GG, Arora K, Sequeira JM, Nakayama Y, Lai SC, Quadros EV. | 03/13/2021 |
| In genotype combination analysis, two combinations containing the TCN2 67 polymorphism AG type were associated with RIF risk. Our study showed that the polymorphisms of TCN2 and TCblR are associated with RIF and are potential genetic predisposing factors for RIF among Korean women. | Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure.
Park HS, Kim JO, An HJ, Ryu CS, Ko EJ, Kim YR, Ahn EH, Lee WS, Kim JH, Kim NK., Free PMC Article | 12/14/2019 |
| A known pathogenic CD320 variant (c.262_264GAG; p.Glu88del) in methylmalonic aciduria cases. | Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
Hannah-Shmouni F, Cruz V, Schulze A, Mercimek-Andrews S. | 05/25/2019 |
| It has been proposed that the transcobalamin 2 receptor (TCN2R) is associated with idiopathic recurrent spontaneous abortion (RSA). The findings showed no significant association between TCN2R rs2336573 polymorphisms and the risk/protection of recurrent spontaneous abortion. | Evaluation of transcobalamin II rs1801198 and transcobalamin II receptor rs2336573 gene polymorphisms in recurrent spontaneous abortion.
Hashemi M, Mokhtari M, Yazdani-Shahrbabaki V, Danesh H, Bizhani F, Taheri M. | 12/10/2018 |
| the crystal structure of human holo-transcobalamin (TC) in complex with the extracellular domain of CD320, visualizing the structural basis of the TC-CD320 interaction, is reported. | Structural basis of transcobalamin recognition by human CD320 receptor.
Alam A, Woo JS, Schmitz J, Prinz B, Root K, Chen F, Bloch JS, Zenobi R, Locher KP., Free PMC Article | 09/1/2018 |
| There was no significant difference in the expression of soluble csf CD320 between patients and controls. | The soluble transcobalamin receptor (sCD320) in relation to Alzheimer's disease and cognitive scores.
Abuyaman O, Combrinck M, Smith AD, Nexo E. | 04/21/2018 |
| Although not 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 cobalamin deficiency. | Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.
Kurnat-Thoma EL, Pangilinan F, Matteini AM, Wong B, Pepper GA, Stabler SP, Guralnik JM, Brody LC. | 12/17/2016 |
| The soluble transcobalamin receptor is present in cerebrospinal fluid and correlates to dementia-related biomarkers tau proteins and amyloid-beta. | The soluble transcobalamin receptor (sCD320) is present in cerebrospinal fluid and correlates to dementia-related biomarkers tau proteins and amyloid-beta.
Abuyaman O, Nexo E. | 04/23/2016 |
| 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 | 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.
Kim HS, Lee BE, Jeon YJ, Rah H, Lee WS, Shin JE, Choi DH, Kim NK. | 04/4/2015 |
| The high urinary concentration and the strong correlation between urinary and serum sCD320 suggests that sCD320 is filtered in the kidney. | The soluble receptor for vitamin B12 uptake (sCD320) increases during pregnancy and occurs in higher concentration in urine than in serum.
Abuyaman O, Andreasen BH, Kronborg C, Vittinghus E, Nexo E., Free PMC Article | 04/5/2014 |
| Data indicate that only the extracellular region (aa 32-229) of TCblR/CD320 is needed for transcobalamin-cobalamin (TC-Cbl) binding. | Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin.
Jiang W, Nakayama Y, Sequeira JM, Quadros EV., Free PMC Article | 12/21/2013 |
| Proliferating cancer cells express measurable levels of TCII and TCII-R. | Immunohistochemical quantification of the vitamin B12 transport protein (TCII), cell surface receptor (TCII-R) and Ki-67 in human tumor xenografts.
Sysel AM, Valli VE, Nagle RB, Bauer JA., Free PMC Article | 12/14/2013 |
| TCblr SNP were associated with omphalocele suggests that disruption of methylation reactions, in which folate, vitamin B12, and homocysteine play critical parts, may be a risk factor for omphalocele. | Folate and vitamin B12-related genes and risk for omphalocele.
Mills JL, Carter TC, Kay DM, Browne ML, Brody LC, Liu A, Romitti PA, Caggana M, Druschel CM., Free PMC Article | 06/16/2012 |
| Our data suggest that variation in TCblR plays a role in neural tube defect risk and that these variants may modulate cobalamin metabolism. | Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.
Pangilinan F, Mitchell A, VanderMeer J, Molloy AM, Troendle J, Conley M, Kirke PN, Sutton M, Sequeira JM, Quadros EV, Scott JM, Mills JL, Brody LC, Pangilinan F, Mitchell A, VanderMeer J, Molloy AM, Troendle J, Conley M, Kirke PN, Sutton M, Sequeira JM, Quadros EV, Scott JM, Mills JL, Brody LC., Free PMC Articles: PMC4112773, PMC4112773 | 01/29/2011 |
| the cell cycle associated expression of TCblR appears to be tightly regulated in synchrony with the proliferative phase of the cell cycle. | Characterization of the promoter region of TCblR/CD320 gene, the receptor for cellular uptake of transcobalamin-bound cobalamin.
Jiang W, Sequeira JM, Nakayama Y, Lai SC, Quadros EV., Free PMC Article | 10/23/2010 |
| Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of transcobalamin-bound cobalamin, identified a homozygous single codon deletion, c.262_264GAG (p.E88del), resulting in the loss of a glutamic acid residue. | Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS., Free PMC Article | 10/23/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.
Pangilinan F, Mitchell A, VanderMeer J, Molloy AM, Troendle J, Conley M, Kirke PN, Sutton M, Sequeira JM, Quadros EV, Scott JM, Mills JL, Brody LC, Pangilinan F, Mitchell A, VanderMeer J, Molloy AM, Troendle J, Conley M, Kirke PN, Sutton M, Sequeira JM, Quadros EV, Scott JM, Mills JL, Brody LC., Free PMC Articles: PMC4112773, PMC4112773 | 09/15/2010 |
| This gene encodes a receptor for cellular uptake of transcobalamin-bound vitamin B12. | The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin.
Quadros EV, Nakayama Y, Sequeira JM., Free PMC Article | 09/25/2009 |
| Confocal microscopy of tonsil sections revealed co-localization of CD320 with CD19 and CD38 but not with CD3 indicating that germinal center B cells expressed CD320 in addition to follicular dendritic cells. | Expression of CD320 in human B cells in addition to follicular dendritic cells.
Cho W, Choi J, Park CH, Yoon SO, Jeoung DI, Kim YM, Choe J. | 01/21/2010 |