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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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Immunohistochemical Localization of Collagen Type XI α1 and α2 Chains in Human Colon Tissue
Kara B. Bowen, Aaron P. Reimers, Sarah Luman, Joseph D. Kronz, William E. Fyffe, Julia Thom Oxford
J Histochem Cytochem. 2008 Mar; 56(3): 275–283. doi: 10.1369/jhc.7A7310.2007
PMCID:
PMC2324180
AbstractArticlePDF–2.0M
9.
Structural basis of the collagen-binding mode of discoidin domain receptor 2
Osamu Ichikawa, Masanori Osawa, Noritaka Nishida, Naoki Goshima, Nobuo Nomura, Ichio Shimada
EMBO J. 2007 Sep 19; 26(18): 4168–4176. Published online 2007 Aug 16. doi: 10.1038/sj.emboj.7601833
PMCID:
PMC2230669
AbstractArticlePDF–429K
10.
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
W Chen, K Kahrizi, N Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, R Smith
J Med Genet. 2005 Oct; 42(10): e61. doi: 10.1136/jmg.2005.032615
PMCID:
PMC1735925
SummaryPDF–271K
11.
Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, P J Willems, R J Smith
Am J Hum Genet. 1997 Apr; 60(4): 758–764.
PMCID:
PMC1712474
SummaryPage BrowsePDF–1.2M
12.
Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
H Koga, T Sakou, E Taketomi, K Hayashi, T Numasawa, S Harata, K Yone, S Matsunaga, B Otterud, I Inoue, M Leppert
Am J Hum Genet. 1998 Jun; 62(6): 1460–1467. doi: 10.1086/301868
PMCID:
PMC1377147
SummaryPDF–432K
13.
Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Ala-Kokko
Am J Hum Genet. 2000 Feb; 66(2): 368–377. doi: 10.1086/302750
PMCID:
PMC1288089
AbstractArticlePDF–844K
14.
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
15.
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
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.
Several regions in the major histocompatibility complex confer risk for anti-CCP- antibody positive rheumatoid arthritis, independent of the DRB1 locus
Hye-Soon Lee, Annette T. Lee, Lindsey A. Criswell, Michael F. Seldin, Christopher I Amos, John P Carulli, Cristina Navarrete, Elaine F Remmers, Daniel L. Kastner, Robert M Plenge, Wentian Li, Peter K. Gregersen
Mol Med. 2008 May-Jun; 14(5-6): 293–300. Published online 2008 Feb 29. doi: 10.2119/2007-00123.Lee
PMCID:
PMC2255558
AbstractArticlePDF–916K
18.
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
19.
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
20.
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

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