PMC Links for Gene (Select 2694) - PMC

Select item 26366831.

Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

Andrea E. Ament, Zhongyuan Li, Amy C. Sturm, James D. Perko, Sarah Lawson, Margaret Masterson, Edward V. Quadros, Stephan M. Tanner

Br J Haematol. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Br J Haematol. 2009 Feb; 144(4): 622–624. Published online 2008 Nov 19. doi: 10.1111/j.1365-2141.2008.07496.x

PMCID:: PMC2636683

Article PDF–163K

Select item 20772532.

Crystal structure of human intrinsic factor: Cobalamin complex at 2.6-Å resolution

F. S. Mathews, M. M. Gordon, Z. Chen, K. R. Rajashankar, S. E. Ealick, D. H. Alpers, N. Sukumar

Proc Natl Acad Sci U S A. 2007 Oct 30; 104(44): 17311–17316. Published online 2007 Oct 22. doi: 10.1073/pnas.0703228104

PMCID:: PMC2077253

Abstract Article PDF–816K

Select item 11677473.

Human gastric intrinsic factor expression is not restricted to parietal cells.

T A Howard, D N Misra, M Grove, M J Becich, J S Shao, M Gordon, D H Alpers

J Anat. 1996 Oct; 189(Pt 2): 303–313.

PMCID:: PMC1167747

Summary Page Browse PDF–5.0M

Select item 5548214.

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Stephan M. Tanner, Zhongyuan Li, James D. Perko, Cihan Öner, Mualla Çetin, Çiğdem Altay, Zekiye Yurtsever, Karen L. David, Laurence Faivre, Essam A. Ismail, Ralph Gräsbeck, Albert de la Chapelle

Proc Natl Acad Sci U S A. 2005 Mar 15; 102(11): 4130–4133. Published online 2005 Feb 28. doi: 10.1073/pnas.0500517102

PMCID:: PMC554821

Abstract Article PDF–189K

Select item 34626845.

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi, Albert de la Chapelle

Orphanet J Rare Dis. 2012; 7: 56. Published online 2012 Aug 28. doi: 10.1186/1750-1172-7-56

PMCID:: PMC3462684

Abstract Article PDF–417K

Select item 46178636.

Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury

Kang Li, Luobu Gesang, Zeng Dan, Lamu Gusang, Ciren Dawa, Yuqiang Nie

PLoS One. 2015; 10(10): e0140534. Published online 2015 Oct 20. doi: 10.1371/journal.pone.0140534

PMCID:: PMC4617863

Abstract Article PDF–2.5M

Select item 29501157.

A Candidate Gene Study of Folate-Associated One Carbon Metabolism Genes and Colorectal Cancer Risk

A. Joan Levine, Jane C. Figueiredo, Won Lee, David V. Conti, Kathleen Kennedy, David J Duggan, Jenny N. Poynter, Peter T. Campbell, Polly Newcomb, Maria Elena Martinez, John L. Hopper, Loic Le Marchand, John A. Baron, Paul J. Limburg, Cornelia M. Ulrich, Robert W. Haile

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2010 Jul; 19(7): 1812–1821. doi: 10.1158/1055-9965.EPI-10-0151

PMCID:: PMC2950115

Abstract Article PDF–280K

Select item 31965508.

Exome sequencing supports a de novo mutational paradigm for schizophrenia

Bin Xu, J. Louw Roos, Phillip Dexheimer, Braden Boone, Brooks Plummer, Shawn Levy, Joseph A. Gogos, Maria Karayiorgou

Nat Genet. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Nat Genet. 2011 Sep; 43(9): 864–868. Published online 2011 Aug 7. doi: 10.1038/ng.902

PMCID:: PMC3196550

Abstract Article PDF–379K

Select item 61666829.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 716998310.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 553161111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503012.

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