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Items: 1 to 20 of 47

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
AbstractArticlePDF–708K
2.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
3.
Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter
Joseph Boachie, Antonysunil Adaikalakoteswari, Ilona Goljan, Jinous Samavat, Felino R. Cagampang, Ponnusamy Saravanan
Int J Mol Sci. 2021 Mar; 22(6): 3089. Published online 2021 Mar 17. doi: 10.3390/ijms22063089
PMCID:
PMC8002616
AbstractArticlePDF–1.2M
4.
3’-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women
Tae-Keun Ahn, Jung Oh Kim, Hui Jeong An, Han Sung Park, Un Yong Choi, Seil Sohn, Kyoung-Tae Kim, Nam Keun Kim, In-Bo Han
Genes (Basel) 2020 Jun; 11(6): 612. Published online 2020 Jun 2. doi: 10.3390/genes11060612
PMCID:
PMC7349196
AbstractArticlePDF–1.9M
5.
Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure
Shan Liu, Mengwei Liu, Qian Li, Xiuping Liu, Yue Wang, Michael Mambiya, Kaili Zhang, Luping Yang, Qian Zhang, Mengke Shang, Fanxin Zeng, Fangfang Nie, Wanyang Liu
Biosci Rep. 2019 Dec 20; 39(12): BSR20191454. Published online 2019 Dec 17. doi: 10.1042/BSR20191454
PMCID:
PMC6923352
AbstractArticlePDF–457K
6.
Association between oral cleft and transcobalamin 2 polymorphism in a sample study from Nassiriya, Iraq
Francesco Carinci, Annalisa Palmieri, Luca Scapoli, Francesca Cura, Fabio Abenavoli, Aldo Bruno Giannì, Antonio Russillo, Raffaella Docimo, Marcella Martinelli
Int J Immunopathol Pharmacol. 2019 Jan-Dec; 33: 2058738419855571. Published online 2019 Oct 30. doi: 10.1177/2058738419855571
PMCID:
PMC6822189
AbstractArticlePDF–434K
7.
Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure
Han Sung Park, Jung Oh Kim, Hui Jeong An, Chang Soo Ryu, Eun Ju Ko, Young Ran Kim, Eun Hee Ahn, Woo Sik Lee, Ji Hyang Kim, Nam Keun Kim
J Assist Reprod Genet. 2019 Jul; 36(7): 1513–1522. Published online 2019 May 23. doi: 10.1007/s10815-019-01455-4
PMCID:
PMC6642250
AbstractArticlePDF–285K
8.
Association Study of Polymorphisms in Genes Relevant to Vitamin B12 and Folate Metabolism with Childhood Autism Spectrum Disorder in a Han Chinese Population
Zengyu Zhang, Lianfang Yu, Sufang Li, Jun Liu
Med Sci Monit. 2018; 24: 370–376. Published online 2018 Jan 19. doi: 10.12659/MSM.905567
PMCID:
PMC5785951
AbstractArticlePDF–286K
9.
Proteome Analysis of Hypoxic Glioblastoma Cells Reveals Sequential Metabolic Adaptation of One-Carbon Metabolic Pathways
Kangling Zhang, Pei Xu, James L. Sowers, Daniel F. Machuca, Barsam Mirfattah, Jason Herring, Hui Tang, Yan Chen, Bing Tian, Allan R. Brasier, Lawrence C. Sowers
Mol Cell Proteomics. 2017 Nov; 16(11): 1906–1921. Published online 2017 Aug 18. doi: 10.1074/mcp.RA117.000154
PMCID:
PMC5671999
AbstractArticlePDF–3.1M
10.
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
AbstractArticlePDF–1.9M
11.
Transcobalamin 776C→G polymorphism is associated with peripheral neuropathy in elderly individuals with high folate intake
Hathairat Sawaengsri, Peter R Bergethon, Wei Qiao Qiu, Tammy M Scott, Paul F Jacques, Jacob Selhub, Ligi Paul
Am J Clin Nutr. 2016 Dec; 104(6): 1665–1670. Published online 2016 Oct 12. doi: 10.3945/ajcn.116.139030
PMCID:
PMC5118734
AbstractArticlePDF–488K
12.
Structural basis of transcobalamin recognition by human CD320 receptor
Amer Alam, Jae-Sung Woo, Jennifer Schmitz, Bernadette Prinz, Katharina Root, Fan Chen, Joël S. Bloch, Renato Zenobi, Kaspar P. Locher
Nat Commun. 2016; 7: 12100. Published online 2016 Jul 14. doi: 10.1038/ncomms12100
PMCID:
PMC4947154
AbstractArticlePDF–1.1M
13.
Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants
Digna R. Velez, Stephen Fortunato, Poul Thorsen, Salvatore J. Lombardi, Scott M. Williams, Ramkumar Menon
Am J Obstet Gynecol. Author manuscript; available in PMC 2016 Apr 12.
Published in final edited form as: Am J Obstet Gynecol. 2009 Feb; 200(2): 209.e1–209.27. Published online 2008 Nov 18. doi: 10.1016/j.ajog.2008.08.051
PMCID:
PMC4829203
AbstractArticlePDF–164K
14.
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
AbstractArticlePDF–179K
15.
PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion
Anna E. Dart, Gary M. Box, William Court, Madeline E. Gale, John P. Brown, Sarah E. Pinder, Suzanne A. Eccles, Claire M. Wells
J Cell Biol. 2015 Nov 23; 211(4): 863–879. doi: 10.1083/jcb.201501072
PMCID:
PMC4657161
AbstractArticlePDF–8.1M
16.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
17.
Immunohistochemical Quantification of the Vitamin B12 Transport Protein (TCII), Cell Surface Receptor (TCII-R) and Ki-67 in Human Tumor Xenografts
Annette M. Sysel, Victor E. Valli, Ray B. Nagle, Joseph A. Bauer
Anticancer Res. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Anticancer Res. 2013 Oct; 33(10): 4203–4212.
PMCID:
PMC4042430
AbstractArticlePDF–917K
18.
Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer
Aditi Hazra, Charles S. Fuchs, Takako Kawasaki, Gregory J. Kirkner, David J. Hunter, Shuji Ogino
Cancer Causes Control. Author manuscript; available in PMC 2013 Feb 13.
Published in final edited form as: Cancer Causes Control. 2010 Mar; 21(3): 331–345. doi: 10.1007/s10552-009-9464-2
PMCID:
PMC3570978
AbstractArticlePDF–324K
19.
Association of transcobalamin c. 776C>G with overall survival in patients with primary central nervous system lymphoma
M Linnebank, S Moskau, A Kowoll, A Semmler, C Bangard, M Vogt-Schaden, G Egerer, G Schackert, H Reichmann, I G H Schmidt-Wolf, H Pels, U Schlegel
Br J Cancer. 2012 Nov 20; 107(11): 1840–1843. Published online 2012 Oct 25. doi: 10.1038/bjc.2012.476
PMCID:
PMC3504945
AbstractArticlePDF–442K
20.
A genome-wide association study identifies susceptibility loci for Wilms tumor
Clare Turnbull, Elizabeth Perdeaux, David Pernet, Arlene Naranjo, Anthony Renwick, Sheila Seal, Rosa Maria Munoz Xicola, Sandra Hanks, Ingrid Slade, Anna Zachariou, Margaret Warren-Perry, Elise Ruark, Mary Gerrard, Juliet Hale, Martin Hewitt, Janice Kohler, Sheila Lane, Gill Levitt, Mabrook Madi, Bruce Morland, Veronica Neefjes, James Nicholdson, Susan Picton, Barry Pizer, Milind Ronghe, Michael Stevens, Heidi Traunecker, Charles A Stiller, Kathy Pritchard-Jones, Jeffrey Dome, Paul Grundy, Nazneen Rahman
Nat Genet. Author manuscript; available in PMC 2012 Dec 1.
Published in final edited form as: Nat Genet. 2012 Jun; 44(6): 681–684. Published online 2012 Apr 29. doi: 10.1038/ng.2251
Correction in:
volume 45 on page 962
PMCID:
PMC3400150
AbstractArticlePDF–341K

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