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Items: 1 to 20 of 32

1.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, Brian Ciruna
Hum Mol Genet. 2023 Oct 1; 32(19): 2913–2928. Published online 2023 Jul 18. doi: 10.1093/hmg/ddad117
PMCID:
PMC10508038
AbstractArticlePDF–3.0M
2.
The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements
Samantha Beckley, Roopam Dey, Shaun Stinton, Willem van der Merwe, Thomas Branch, Alison V. September, Mike Posthumus, Malcolm Collins
Genes (Basel) 2022 Dec; 13(12): 2359. Published online 2022 Dec 14. doi: 10.3390/genes13122359
PMCID:
PMC9778334
AbstractArticlePDF–1.0M
3.
Physical and functional interactome atlas of human receptor tyrosine kinases
Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
PMCID:
PMC9171411
AbstractArticlePDF–1.9M
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.
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Genes (Basel) 2020 Dec; 11(12): 1513. Published online 2020 Dec 17. doi: 10.3390/genes11121513
PMCID:
PMC7766184
AbstractArticlePDF–1.9M
6.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
7.
Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population
Renjie Xu, Xin Jiang, Junlan Lu, Kexin Wang, Ye Sun, Yuxin Zhang
Aging (Albany NY) 2020 May 15; 12(9): 7694–7703. Published online 2020 May 12. doi: 10.18632/aging.103040
PMCID:
PMC7244083
AbstractArticlePDF–1.3M
8.
Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population
Xuejun Yang, Haiyu Jia, Wenhua Xing, Feng Li, Manglai Li, Ke Sun, Yong Zhu
Mol Genet Genomic Med. 2019 Feb; 7(2): e00524. Published online 2018 Dec 8. doi: 10.1002/mgg3.524
PMCID:
PMC6393657
AbstractArticlePDF–363K
9.
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
AbstractArticlePDF–3.8M
10.
Single nucleotide polymorphism in the COL11A2 gene associated with lowered heat pain sensitivity in knee osteoarthritis
Kwo Wei David Ho, Margaret R Wallace, Kimberly T Sibille, Emily J Bartley, Yenisel Cruz-Almeida, Toni L Glover, Christopher D King, Burel R Goodin, Adriana Addison, Jeffrey C Edberg, Matthew S Herbert, Hailey W Bulls, Roland Staud, Laurence A Bradley, Roger B Fillingim
Mol Pain. 2017; 13: 1744806917724259. Published online 2017 Aug 16. doi: 10.1177/1744806917724259
PMCID:
PMC5562334
AbstractArticlePDF–297K
11.
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Cristen J Willer, Serena Sanna, Anne U Jackson, Angelo Scuteri, Lori L Bonnycastle, Robert Clarke, Simon C Heath, Nicholas J Timpson, Samer S Najjar, Heather M Stringham, James Strait, William L Duren, Andrea Maschio, Fabio Busonero, Antonella Mulas, Giuseppe Albai, Amy J Swift, Mario A Morken, Narisu Narisu, Derrick Bennett, Sarah Parish, Haiqing Shen, Pilar Galan, Pierre Meneton, Serge Hercberg, Diana Zelenika, Wei-Min Chen, Yun Li, Laura J Scott, Paul A Scheet, Jouko Sundvall, Richard M Watanabe, Ramaiah Nagaraja, Shah Ebrahim, Debbie A Lawlor, Yoav Ben-Shlomo, George Davey-Smith, Alan R Shuldiner, Rory Collins, Richard N Bergman, Manuela Uda, Jaakko Tuomilehto, Antonio Cao, Francis S Collins, Edward Lakatta, G Mark Lathrop, Michael Boehnke, David Schlessinger, Karen L Mohlke, Gonçalo R Abecasis
Nat Genet. Author manuscript; available in PMC 2017 Jan 3.
Published in final edited form as: Nat Genet. 2008 Feb; 40(2): 161–169. Published online 2008 Jan 13. doi: 10.1038/ng.76
PMCID:
PMC5206900
AbstractArticlePDF–241K
12.
Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes
Xin Chen, Jun Guo, Tao Cai, Fengshan Zhang, Shengfa Pan, Li Zhang, Shaobo Wang, Feifei Zhou, Yinze Diao, Yanbin Zhao, Zhen Chen, Xiaoguang Liu, Zhongqiang Chen, Zhongjun Liu, Yu Sun, Jie Du
Sci Rep. 2016; 6: 26962. Published online 2016 Jun 1. doi: 10.1038/srep26962
PMCID:
PMC4887887
AbstractArticlePDF–1.4M
13.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Imen Chakchouk, M’hamed Grati, Guney Bademci, Mariem Bensaid, Qi Ma, Amine Chakroun, Joseph Foster, II, Denise Yan, Duygu Duman, Oscar Diaz-Horta, Abdelmonem Ghorbel, Rahul Mittal, Amjad Farooq, Mustafa Tekin, Saber Masmoudi, Xue Zhong Liu
Mol Genet Genomics. Author manuscript; available in PMC 2016 Jan 11.
Published in final edited form as: Mol Genet Genomics. 2015 Aug; 290(4): 1327–1334. Published online 2015 Jan 30. doi: 10.1007/s00438-015-0995-9
PMCID:
PMC4707654
AbstractArticlePDF–1.1M
14.
Association of Granulomatosis With Polyangiitis (Wegener’s) With HLA–DPB1*04 and SEMA6A Gene Variants Evidence From Genome-Wide Analysis
Gang Xie, Delnaz Roshandel, Richard Sherva, Paul A. Monach, Emily Yue Lu, Tabitha Kung, Keisha Carrington, Steven S. Zhang, Sara L. Pulit, Stephan Ripke, Simon Carette, Paul F. Dellaripa, Jeffrey C. Edberg, Gary S. Hoffman, Nader Khalidi, Carol A. Langford, Alfred D. Mahr, E. William St.Clair, Philip Seo, Ulrich Specks, Robert F. Spiera, John H. Stone, Steven R. Ytterberg, Soumya Raychaudhuri, Paul I. W. de Bakker, Lindsay A. Farrer, Christopher I. Amos, Peter A. Merkel, Katherine A. Siminovitch
Arthritis Rheum. Author manuscript; available in PMC 2015 Jun 18.
Published in final edited form as: Arthritis Rheum. 2013 Sep; 65(9): 2457–2468. doi: 10.1002/art.38036
PMCID:
PMC4471994
AbstractArticlePDF–1.0M
15.
Genetically Distinct Subsets within ANCA-Associated Vasculitis
Paul A. Lyons, Tim F. Rayner, Sapna Trivedi, Julia U. Holle, Richard A. Watts, David R.W. Jayne, Bo Baslund, Paul Brenchley, Annette Bruchfeld, Afzal N. Chaudhry, Jan Willem Cohen Tervaert, Panos Deloukas, Conleth Feighery, Wolfgang L. Gross, Loic Guillevin, Iva Gunnarsson, Lorraine Harper M.R.C P, Zdenka Hrušková, Mark A. Little, Davide Martorana, Thomas Neumann, Sophie Ohlsson, Sandosh Padmanabhan, Charles D. Pusey, Alan D. Salama, Jan-Stephan F. Sanders, Caroline O. Savage, Mårten Segelmark, Coen A. Stegeman, Vladimir Tesař, Augusto Vaglio, Stefan Wieczorek, Benjamin Wilde, Jochen Zwerina, Andrew J. Rees, David G. Clayton, Kenneth G.C. Smith
N Engl J Med. Author manuscript; available in PMC 2013 Sep 16.
Published in final edited form as: N Engl J Med. 2012 Jul 19; 367(3): 214–223. doi: 10.1056/NEJMoa1108735
PMCID:
PMC3773907
AbstractArticlePDF–795K
16.
Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ß gene polymorphisms
Svetlana Solovieva, Jaana Lohiniva, Päivi Leino-Arjas, Raili Raininko, Katariina Luoma, Leena Ala-Kokko, Hilkka Riihimäki
Eur Spine J. 2006 May; 15(5): 613–619. Published online 2005 Aug 17. doi: 10.1007/s00586-005-0988-1
PMCID:
PMC3489335
AbstractArticlePDF–210K
17.
Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2
Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, Daniel H. Cohn
Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 309–314. Published online 2012 Jan 13. doi: 10.1002/ajmg.a.34406
PMCID:
PMC3264686
AbstractArticlePDF–238K
18.
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
19.
Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study
Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators
Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452
PMCID:
PMC2945168
AbstractArticlePDF–153K
20.
Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia
Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray
PLoS One. 2010; 5(7): e11493. Published online 2010 Jul 9. doi: 10.1371/journal.pone.0011493
PMCID:
PMC2901336
AbstractArticlePDF–778K

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