PMC Links for Gene (Select 256076) - PMC

Select item 70813181.

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

Select item 57504742.

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

Article PDF–402K

Select item 19711273.

Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis

Cilla Söderhäll, Ingo Marenholz, Tamara Kerscher, Franz Rüschendorf, Jorge Esparza-Gordillo, Margitta Worm, Christoph Gruber, Gabriele Mayr, Mario Albrecht, Klaus Rohde, Herbert Schulz, Ulrich Wahn, Norbert Hubner, Young-Ae Lee

PLoS Biol. 2007 Sep; 5(9): e242. Published online 2007 Sep 11. doi: 10.1371/journal.pbio.0050242

PMCID:: PMC1971127

Article PDF–417K

Select item 33150144.

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

Article

Select item 86885245.

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

Article PDF–6.5M

Select item 65828256.

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

Article PDF–675K

Select item 81127087.

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

Article PDF–1.2M

Select item 72154518.

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

Article PDF–1.0M

Select item 27975059.

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

Article PDF–1.0M

Select item 524897010.

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

Article PDF–846K

Select item 498523811.

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

Article PDF–429K

Select item 274058412.

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

Article PDF–3.3M

Select item 384794113.

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

Article PDF–1.3M

Select item 560029114.

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

Article PDF–1.4M

Select item 733419715.

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

Article PDF–3.1M

Select item 730679216.

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

Article PDF–1.0M

Select item 807872817.

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

Article PDF–2.1M

Select item 503155818.

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

Article PDF–5.9M

Select item 289646419.

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

Article PDF–2.4M

Select item 317805920.

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

Article PDF–1.0M

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