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Items: 1 to 20 of 27

1.
“Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”
Mohammed Ahmed Mohammed Oshi, Jaber Alfaifi, Youssef Ali M. Alqahtani, Mohammed Fahad Aljabri, Naglaa M. Kamal, Jwaher Althopaity, Khalid A. Althobaiti, Abdullah M. Almalki, Salma A. S. Abosabie, Sara A. Abosabie, Hanan Sakr Sherbiny, Saif K. Almanjoomi, Enas A. A. Abdallah
Mol Genet Genomic Med. 2024 Jan; 12(1): e2282. Published online 2023 Oct 6. doi: 10.1002/mgg3.2282
PMCID:
PMC10767415
ArticlePDF–708K
2.
TCN1 Deficiency Inhibits the Malignancy of Colorectal Cancer Cells by Regulating the ITGB4 Pathway
Xinqiang Zhu, Xuetong Jiang, Qinglin Zhang, Hailong Huang, Xiaohong Shi, Daorong Hou, Chungen Xing
Gut Liver. 2023 May 15; 17(3): 412–429. Published online 2022 Jun 10. doi: 10.5009/gnl210494
PMCID:
PMC10191790
ArticlePDF–13M
3.
Gp35/50 mucin molecules of Trypanosoma cruzi metacyclic forms that mediate host cell invasion interact with annexin A2
Thiago Souza Onofre, Leonardo Loch, João Paulo Ferreira Rodrigues, Silene Macedo, Nobuko Yoshida
PLoS Negl Trop Dis. 2022 Oct; 16(10): e0010788. Published online 2022 Oct 3. doi: 10.1371/journal.pntd.0010788
PMCID:
PMC9529151
ArticlePDF–3.4M
4.
A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
BMC Pediatr. 2022; 22: 233. Published online 2022 Apr 29. doi: 10.1186/s12887-022-03291-5
PMCID:
PMC9052601
ArticlePDF–1.0M
5.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene
Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel-Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, Lawrence C. Brody
Am J Med Genet A. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Am J Med Genet A. 2022 Apr; 188(4): 1124–1141. Published online 2022 Feb 2. doi: 10.1002/ajmg.a.62627
PMCID:
PMC8923979
ArticlePDF–706K
6.
Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish
Courtney R Benoit, Darren J Walsh, Levan Mekerishvili, Nadia Houerbi, Abigail E Stanton, David M McGaughey, Lawrence C Brody
J Nutr. 2021 Sep; 151(9): 2522–2532. Published online 2021 Jun 16. doi: 10.1093/jn/nxab151
PMCID:
PMC8417929
ArticlePDF–5.1M
7.
Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report
Francesco Martino, Alessandra Magenta, Maria Letizia Troccoli, Eliana Martino, Concetta Torromeo, Carolina Putotto, Francesco Barillà
Ital J Pediatr. 2021; 47: 54. Published online 2021 Mar 8. doi: 10.1186/s13052-021-01007-6
PMCID:
PMC7941906
ArticlePDF–486K
8.
The stiffness‐controlled release of interleukin‐6 by cardiac fibroblasts is dependent on integrin α2β1
Małgorzata Gałdyszyńska, Justyna Bobrowska, Małgorzata Lekka, Paulina Radwańska, Lucyna Piera, Jacek Szymański, Jacek Drobnik
J Cell Mol Med. 2020 Dec; 24(23): 13853–13862. Published online 2020 Oct 30. doi: 10.1111/jcmm.15974
PMCID:
PMC7754059
ArticlePDF–790K
9.
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report
Shihong Zhan, Fangfang Cheng, Hailong He, Shaoyan Hu, Xing Feng
BMC Pediatr. 2020; 20: 460. Published online 2020 Oct 6. doi: 10.1186/s12887-020-02357-6
PMCID:
PMC7537950
ArticlePDF–1015K
10.
Assessment of cellular cobalamin metabolism in Gaucher disease
Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
BMC Med Genet. 2020; 21: 12. Published online 2020 Jan 13. doi: 10.1186/s12881-020-0947-z
PMCID:
PMC6958775
ArticlePDF–780K
11.
Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels
Sanjeev Khera, Suman Kumar Pramanik, Saroj Kumar Patnaik
BMJ Case Rep. 2019; 12(10): e232319. Published online 2019 Oct 30. doi: 10.1136/bcr-2019-232319
PMCID:
PMC6827761
ArticlePDF–161K
12.
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation
Aneliya Velkova, Jennifer E L Diaz, Faith Pangilinan, Anne M Molloy, James L Mills, Barry Shane, Erica Sanchez, Conal Cunningham, Helene McNulty, Cheryl D Cropp, Joan E Bailey-Wilson, Alexander F Wilson, Lawrence C Brody
Hum Mol Genet. 2017 Dec 15; 26(24): 4975–4988. Published online 2017 Oct 12. doi: 10.1093/hmg/ddx369
PMCID:
PMC5886113
ArticlePDF–718K
13.
Meat Consumption During Pregnancy and Substance Misuse Among Adolescent Offspring: Stratification of TCN2 Genetic Variants
Joseph R. Hibbeln, John Paul SanGiovanni, Jean Golding, Pauline E. Emmett, Kate Northstone, John M. Davis, Marc Schuckit, Jon Heron
Alcohol Clin Exp Res. Author manuscript; available in PMC 2018 Nov 1.
Published in final edited form as: Alcohol Clin Exp Res. 2017 Nov; 41(11): 1928–1937. Published online 2017 Oct 9. doi: 10.1111/acer.13494
PMCID:
PMC5659906
ArticlePDF–583K
14.
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
Abderrahim Oussalah, Julien Levy, Pierre Filhine-Trésarrieu, Fares Namour, Jean-Louis Guéant
Am J Clin Nutr. 2017 Oct; 106(4): 1142–1156. Published online 2017 Aug 16. doi: 10.3945/ajcn.117.156349
PMCID:
PMC5611783
ArticlePDF–1.9M
15.
Transcobalamin II Deficiency in Four Cases with Novel Mutations
Şule Ünal, Tony Rupar, Sevgi Yetgin, Neşe Yaralı, Ali Dursun, Türkiz Gürsel, Mualla Çetin
Turk J Haematol. 2015 Dec; 32(4): 317–322. Published online 2015 Dec 3. doi: 10.4274/tjh.2014.0154
PMCID:
PMC4805327
ArticlePDF–179K
16.
Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin
Wenxia Jiang, Yasumi Nakayama, Jeffrey M. Sequeira, Edward V. Quadros
FASEB J. 2013 Aug; 27(8): 2988–2994. doi: 10.1096/fj.13-230185
PMCID:
PMC3714585
Article
17.
Maximal Load of the Vitamin B12 Transport System: A Study on Mice Treated for Four Weeks with High-Dose Vitamin B12 or Cobinamide
Dorte L. Lildballe, Elena Mutti, Henrik Birn, Ebba Nexo
PLoS One. 2012; 7(10): e46657. Published online 2012 Oct 1. doi: 10.1371/journal.pone.0046657
PMCID:
PMC3462184
ArticlePDF–445K
18.
Polymorphic variants of genes involved in homocysteine metabolism in celiac disease
Kamil K. Hozyasz, Adrianna Mostowska, Anna Szaflarska-Poplawska, Margarita Lianeri, Pawel P. Jagodzinski
Mol Biol Rep. 2012; 39(3): 3123–3130. Published online 2011 Jun 19. doi: 10.1007/s11033-011-1077-7
PMCID:
PMC3271217
ArticlePDF–214K
19.
Regulatory T Cells and IL-10 Independently Counterregulate Cytotoxic T Lymphocyte Responses Induced by Transcutaneous Immunization
Pamela Stein, Michael Weber, Steve Prüfer, Beate Schmid, Edgar Schmitt, Hans-Christian Probst, Ari Waisman, Peter Langguth, Hansjörg Schild, Markus P. Radsak
PLoS One. 2011; 6(11): e27911. Published online 2011 Nov 16. doi: 10.1371/journal.pone.0027911
PMCID:
PMC3218067
ArticlePDF–501K
20.
Transcobalamin C776G Genotype Modifies the Association between Vitamin B12 and Homocysteine in Older Hispanics
Marjorie G. Garrod, Lindsay H. Allen, Mary N. Haan, Ralph Green, Joshua W. Miller
Eur J Clin Nutr. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: Eur J Clin Nutr. 2010 May; 64(5): 503–509. Published online 2010 Mar 10. doi: 10.1038/ejcn.2010.20
PMCID:
PMC2864787
ArticlePDF–790K

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