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Select item 89239791.

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

Abstract Article PDF–706K

Select item 41127732.

Transcobalamin II Receptor Polymorphisms Are Associated with Increased Risk for Neural Tube Defects

Faith Pangilinan, Adam Mitchell, Julie VanderMeer, Anne M. Molloy, James Troendle, Mary Conley, Peadar N. Kirke, Marie Sutton, Jeffrey M. Sequeira, Edward V. Quadros, John M. Scott, James L. Mills, Lawrence C. Brody

J Med Genet. Author manuscript; available in PMC 2014 Jul 28.

Published in final edited form as: J Med Genet. 2010 Oct; 47(10): 677–685. Published online 2010 Jun 24. doi: 10.1136/jmg.2009.073775

Correction in:: J Med Genet, volume 49 on page 784

PMCID:: PMC4112773

Abstract Article PDF–266K

Select item 37549173.

The Soluble Receptor for Vitamin B₁₂ Uptake (sCD320) Increases during Pregnancy and Occurs in Higher Concentration in Urine than in Serum

Omar Abuyaman, Birgitte H. Andreasen, Camilla Kronborg, Erik Vittinghus, Ebba Nexo

PLoS One. 2013; 8(8): e73110. Published online 2013 Aug 27. doi: 10.1371/journal.pone.0073110

PMCID:: PMC3754917

Abstract Article PDF–360K

Select item 37145854.

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

Abstract Article

Select item 29477915.

Characterization of the promoter region of TCblR/CD320 gene, the receptor for cellular uptake of transcobalamin-bound cobalamin

Wenxia Jiang, Jeffrey M Sequeira, Yasumi Nakayama, Edward V. Quadros

Gene. Author manuscript; available in PMC 2011 Oct 15.

Published in final edited form as: Gene. 2010 Oct 15; 466(1-2): 49–55. Published online 2010 Jul 11. doi: 10.1016/j.gene.2010.07.004

PMCID:: PMC2947791

Abstract Article PDF–1.0M

Select item 66422506.

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

Abstract Article PDF–285K

Select item 40424307.

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

Abstract Article PDF–917K

Select item 33745798.

Folate and Vitamin B12 Related Genes and Risk for Omphalocele

James L. Mills, Tonia C. Carter, Denise M. Kay, Marilyn Browne, Lawrence C. Brody, Aiyi Liu, Paul A. Romitti, Michele Caggana, Charlotte Druschel

Hum Genet. Author manuscript; available in PMC 2012 Jun 13.

Published in final edited form as: Hum Genet. 2012 May; 131(5): 739–746. Published online 2011 Nov 25. doi: 10.1007/s00439-011-1117-3

PMCID:: PMC3374579

Abstract Article PDF–309K

Select item 29090359.

Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B₁₂

Edward V. Quadros, Shao-Chiang Lai, Yasumi Nakayama, Jeffrey M. Sequeira, Luciana Hannibal, Sihe Wang, Donald W. Jacobsen, Sergey Fedosov, Erica Wright, Renata C. Gallagher, Natascia Anastasio, David Watkins, David S. Rosenblatt

Hum Mutat. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Hum Mutat. 2010 Aug; 31(8): 924–929. doi: 10.1002/humu.21297

PMCID:: PMC2909035

Abstract Article PDF–1.9M

Select item 219312410.

Identification of a Human Follicular Dendritic Cell Molecule That Stimulates Germinal Center B Cell Growth

Li Li, Xin Zhang, Sharlotte Kovacic, Andrew J. Long, Karen Bourque, Clive R. Wood, Yong Sung Choi

J Exp Med. 2000 Mar 20; 191(6): 1077–1084. doi: 10.1084/jem.191.6.1077

PMCID:: PMC2193124

Abstract Article PDF–195K

Select item 261463211.

The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin

Edward V. Quadros, Yasumi Nakayama, Jeffrey M. Sequeira

Blood. 2009 Jan 1; 113(1): 186–192. Prepublished online 2008 Sep 8. doi: 10.1182/blood-2008-05-158949

PMCID:: PMC2614632

Abstract Article

Select item 800261612.

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

Abstract Article PDF–1.2M

Select item 734919613.

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

Abstract Article PDF–1.9M

Select item 494715414.

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

Abstract Article PDF–1.1M

Select item 352423915.

Brain Transcriptome-Wide Screen for HIV-1 Nef Protein Interaction Partners Reveals Various Membrane-Associated Proteins

Ellen C. Kammula, Jessica Mötter, Alexandra Gorgels, Esther Jonas, Silke Hoffmann, Dieter Willbold

PLoS One. 2012; 7(12): e51578. Published online 2012 Dec 17. doi: 10.1371/journal.pone.0051578

PMCID:: PMC3524239

Abstract Article PDF–705K

Select item 460899716.

Cell Surface Proteomic Map of HIV Infection Reveals Antagonism of Amino Acid Metabolism by Vpu and Nef

Nicholas J. Matheson, Jonathan Sumner, Kim Wals, Radu Rapiteanu, Michael P. Weekes, Raphael Vigan, Julia Weinelt, Michael Schindler, Robin Antrobus, Ana S.H. Costa, Christian Frezza, Clary B. Clish, Stuart J.D. Neil, Paul J. Lehner

Cell Host Microbe. 2015 Oct 14; 18(4): 409–423. doi: 10.1016/j.chom.2015.09.003

PMCID:: PMC4608997

Abstract Article PDF–3.8M

Select item 353489117.

SGTA recognizes a non-canonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote ER-associated degradation

Yue Xu, Mengli Cai, Yingying Yang, Lan Huang, Yihong Ye

Cell Rep. Author manuscript; available in PMC 2013 Jan 3.

Published in final edited form as: Cell Rep. 2012 Dec 27; 2(6): 1633–1644. Published online 2012 Dec 13. doi: 10.1016/j.celrep.2012.11.010

PMCID:: PMC3534891

Abstract Article PDF–3.0M

Select item 629810518.

Ubiquilin 2 modulates ALS/FTD-linked FUS–RNA complex dynamics and stress granule formation

Elizabeth J. Alexander, Amirhossein Ghanbari Niaki, Tao Zhang, Jaya Sarkar, Yang Liu, Raja Sekhar Nirujogi, Akhilesh Pandey, Sua Myong, Jiou Wang

Proc Natl Acad Sci U S A. 2018 Dec 4; 115(49): E11485–E11494. Published online 2018 Nov 15. doi: 10.1073/pnas.1811997115

PMCID:: PMC6298105

Abstract Article PDF–3.7M

Select item 108373219.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 31107220.

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka

Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701

PMCID:: PMC311072

Abstract Article PDF–542K

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