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Items: 1 to 20 of 21

1.
USP3 promotes gastric cancer progression and metastasis by deubiquitination-dependent COL9A3/COL6A5 stabilisation
Xiaosheng Wu, Hao Wang, Danping Zhu, Yixia Chai, Jing Wang, Weiyu Dai, Yizhi Xiao, Weimei Tang, Jiaying Li, Linjie Hong, Miaomiao Pei, Jieming Zhang, Zhizhao Lin, Jide Wang, Aimin Li, Side Liu
Cell Death Dis. 2022 Jan; 13(1): 10. Published online 2021 Dec 20. doi: 10.1038/s41419-021-04460-7
PMCID:
PMC8688524
AbstractArticlePDF–6.5M
2.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
3.
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres i Soler, Maria A. Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch
PLoS One. 2021; 16(5): e0251289. Published online 2021 May 11. doi: 10.1371/journal.pone.0251289
PMCID:
PMC8112708
AbstractArticlePDF–1.2M
4.
Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics
Alexandra Naba, Oliver M. T. Pearce, Amanda Del Rosario, Duanduan Ma, Huiming Ding, Vinothini Rajeeve, Pedro R. Cutillas, Frances R. Balkwill, Richard O. Hynes
J Proteome Res. Author manuscript; available in PMC 2021 Apr 27.
Published in final edited form as: J Proteome Res. 2017 Aug 4; 16(8): 3083–3091. Published online 2017 Jul 19. doi: 10.1021/acs.jproteome.7b00191
PMCID:
PMC8078728
AbstractArticlePDF–2.1M
5.
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Genome Aggregation Database Consortium, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur
Nature. 2020; 581(7809): 434–443. Published online 2020 May 27. doi: 10.1038/s41586-020-2308-7
Correction in:
Nature. 2021; 590(7846): E53.
PMCID:
PMC7334197
AbstractArticlePDF–3.1M
6.
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes
Antonio Rausell, Yufei Luo, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, Antoine Favier, Peter D. Stenson, David N. Cooper, Etienne Patin, Jean-Laurent Casanova, Lluis Quintana-Murci, Laurent Abel
Proc Natl Acad Sci U S A. 2020 Jun 16; 117(24): 13626–13636. Published online 2020 Jun 2. doi: 10.1073/pnas.1917993117
PMCID:
PMC7306792
AbstractArticlePDF–1.0M
7.
RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects
Valerio Caputo, Claudia Strafella, Andrea Termine, Elena Campione, Luca Bianchi, Giuseppe Novelli, Emiliano Giardina, Raffaella Cascella
Int J Mol Sci. 2020 Apr; 21(8): 2740. Published online 2020 Apr 15. doi: 10.3390/ijms21082740
PMCID:
PMC7215451
AbstractArticlePDF–1.0M
8.
Collagen type VI α5 gene variations may predict the risk of lung cancer development in Chinese Han population
Ying Duan, Gaowen Liu, Yao Sun, Jiamin Wu, Zichao Xiong, Tianbo Jin, Mingwei Chen
Sci Rep. 2020; 10: 5010. Published online 2020 Mar 19. doi: 10.1038/s41598-020-61614-x
PMCID:
PMC7081318
AbstractArticlePDF–1.5M
9.
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations
Claudia Strafella, Valerio Caputo, Giulietta Minozzi, Filippo Milano, Mauro Arcangeli, Nagat Sobhy, Rania Abdelmaksood, Doaa Hashad, Efstratios Vakirlis, Giuseppe Novelli, Raffaella Cascella, Emiliano Giardina
Biomed Res Int. 2019; 2019: 3457898. Published online 2019 Jun 4. doi: 10.1155/2019/3457898
PMCID:
PMC6582825
AbstractArticlePDF–675K
10.
Longitudinal exome-wide association study to identify genetic susceptibility loci for hypertension in a Japanese population
Yoshiki Yasukochi, Jun Sakuma, Ichiro Takeuchi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Yoshiji Yamada
Exp Mol Med. 2017 Dec; 49(12): e409;. Published online 2017 Dec 8. doi: 10.1038/emm.2017.209
PMCID:
PMC5750474
AbstractArticlePDF–402K
11.
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Danish Saleheen, Pradeep Natarajan, Irina M. Armean, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J. Karczewski, Anne H. O’Donnell-Luria, Kaitlin E. Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M. Krauss, Daniel G. MacArthur, Stacey Gabriel, Eric S. Lander, Mark J. Daly, Philippe Frossard, John Danesh, Daniel J. Rader, Sekar Kathiresan
Nature. Author manuscript; available in PMC 2017 Oct 12.
Published in final edited form as: Nature. 2017 Apr 12; 544(7649): 235–239. doi: 10.1038/nature22034
PMCID:
PMC5600291
AbstractArticlePDF–1.4M
12.
The expanded collagen VI family: new chains and new questions
Jamie Fitzgerald, Paul Holden, Uwe Hansen
Connect Tissue Res. Author manuscript; available in PMC 2017 Jan 20.
Published in final edited form as: Connect Tissue Res. 2013; 54(6): 345–350. Published online 2013 Aug 23. doi: 10.3109/03008207.2013.822865
PMCID:
PMC5248970
AbstractArticlePDF–846K
13.
SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling
Paul R. Elliott, Derek Leske, Matous Hrdinka, Katrin Bagola, Berthe K. Fiil, Stephen H. McLaughlin, Jane Wagstaff, Norbert Volkmar, John C. Christianson, Benedikt M. Kessler, Stefan M.V. Freund, David Komander, Mads Gyrd-Hansen
Mol Cell. 2016 Sep 15; 63(6): 990–1005. doi: 10.1016/j.molcel.2016.08.001
PMCID:
PMC5031558
AbstractArticlePDF–5.9M
14.
Health and population effects of rare gene knockouts in adult humans with related parents
Vagheesh M. Narasimhan, Karen A. Hunt, Dan Mason, Christopher L. Baker, Konrad J. Karczewski, Michael R. Barnes, Anthony H. Barnett, Chris Bates, Srikanth Bellary, Nicholas A. Bockett, Kristina Giorda, Christopher J. Griffiths, Harry Hemingway, Zhilong Jia, M. Ann Kelly, Hajrah A. Khawaja, Monkol Lek, Shane McCarthy, Rosie McEachan, Anne O’Donnell-Luria, Kenneth Paigen, Constantinos A. Parisinos, Eamonn Sheridan, Laura Southgate, Louise Tee, Mark Thomas, Yali Xue, Michael Schnall-Levin, Petko M. Petkov, Chris Tyler-Smith, Eamonn R. Maher, Richard C. Trembath, Daniel G. MacArthur, John Wright, Richard Durbin, David A. van Heel
Science. Author manuscript; available in PMC 2016 Aug 15.
Published in final edited form as: Science. 2016 Apr 22; 352(6284): 474–477. Published online 2016 Mar 3. doi: 10.1126/science.aac8624
PMCID:
PMC4985238
AbstractArticlePDF–429K
15.
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children
Bahram Namjou, Mehdi Keddache, Keith Marsolo, Michael Wagner, Todd Lingren, Beth Cobb, Cassandra Perry, Stephanie Kennebeck, Ingrid A. Holm, Rongling Li, Nancy A. Crimmins, Lisa Martin, Imre Solti, Isaac S. Kohane, John B. Harley
Front Genet. 2013; 4: 268. Published online 2013 Dec 3. doi: 10.3389/fgene.2013.00268
PMCID:
PMC3847941
AbstractArticlePDF–1.3M
16.
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis
Patrizia Sabatelli, Francesca Gualandi, Sudheer Kumar Gara, Paolo Grumati, Alessandra Zamparelli, Elena Martoni, Camilla Pellegrini, Luciano Merlini, Alessandra Ferlini, Paolo Bonaldo, Nadir Mario Maraldi, Mats Paulsson, Stefano Squarzoni, Raimund Wagener
Matrix Biol. 2012 Apr; 31(3): 187–196. doi: 10.1016/j.matbio.2011.12.003
PMCID:
PMC3315014
AbstractArticle
17.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
18.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
19.
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS)
Francesc Castro-Giner, Mariona Bustamante, Juan Ramon González, Manolis Kogevinas, Deborah Jarvis, Joachim Heinrich, Josep-Maria Antó, Matthias Wjst, Xavier Estivill, Rafael de Cid
BMC Med Genet. 2009; 10: 128. Published online 2009 Dec 6. doi: 10.1186/1471-2350-10-128
PMCID:
PMC2797505
AbstractArticlePDF–1.0M
20.
Corneal Dystrophy-associated R124H Mutation Disrupts TGFBI Interaction with Periostin and Causes Mislocalization to the Lysosome
Bong-Yoon Kim, James A. Olzmann, Seung-il Choi, So Yeon Ahn, Tae-im Kim, Hyun-Soo Cho, Hwal Suh, Eung Kweon Kim
J Biol Chem. 2009 Jul 17; 284(29): 19580–19591. Published online 2009 May 28. doi: 10.1074/jbc.M109.013607
PMCID:
PMC2740584
AbstractArticlePDF–3.3M

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