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Items: 1 to 20 of 29

1.
A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation
Lejian Jiang, Chenhuan Wang, Zhaoming Ye, Qingfeng Hu
J Orthop Surg Res. 2024; 19: 19. Published online 2024 Jan 3. doi: 10.1186/s13018-023-04481-2
PMCID:
PMC10762954
AbstractArticlePDF–2.6M
2.
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona, Miriam Schmidts
Orphanet J Rare Dis. 2022; 17: 97. Published online 2022 Mar 3. doi: 10.1186/s13023-022-02244-6
PMCID:
PMC8892745
AbstractArticlePDF–2.3M
3.
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
Benjamin M. Nash, Christopher J. G. Watson, Edward Hughes, Alec L. Hou, To Ha Loi, Bruce Bennetts, Diana Jelovic, Philip J. Polkinghorne, Mark Gorbatov, John R. Grigg, Andrea L. Vincent, Robyn V. Jamieson
Eur J Hum Genet. 2021 May; 29(5): 881–886. Published online 2021 Feb 25. doi: 10.1038/s41431-021-00820-1
PMCID:
PMC8110976
AbstractArticlePDF–732K
4.
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation
Andrea Hanson-Kahn, Bing Li, Daniel H. Cohn, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Louanne Hudgins
Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 3.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2887–2891. Published online 2018 Nov 18. doi: 10.1002/ajmg.a.40647
PMCID:
PMC7608529
AbstractArticlePDF–550K
5.
Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis
Donghua Huang, Xiangyu Deng, Kaige Ma, Fashuai Wu, Deyao Shi, Hang Liang, Sheng Chen, Zengwu Shao
BMC Musculoskelet Disord. 2018; 19: 381. Published online 2018 Oct 20. doi: 10.1186/s12891-018-2297-y
PMCID:
PMC6195691
AbstractArticlePDF–950K
6.
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
Changhoon Jeong, Jae Young Lee, Jiyeon Kim, Hyojin Chae, Hae-il Park, Myungshin Kim, Ok-Hwa Kim, Paul Kim, Young Kee Lee, Jongsun Jung
BMC Musculoskelet Disord. 2014; 15: 371. Published online 2014 Nov 8. doi: 10.1186/1471-2474-15-371
PMCID:
PMC4236474
AbstractArticlePDF–1.2M
7.
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
Carsten G. Bönnemann, Gerald F. Cox, Frederic Shapiro, Jiann-Jiu Wu, Chris A. Feener, Teryl G. Thompson, Douglas C. Anthony, David R. Eyre, Basil T. Darras, Louis M. Kunkel
Proc Natl Acad Sci U S A. 2000 Feb 1; 97(3): 1212–1217. doi: 10.1073/pnas.97.3.1212
PMCID:
PMC15572
AbstractArticlePDF–269K
8.
Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis
Huihong Wu, Siting Wang, Weiyou Chen, Xinli Zhan, Zengming Xiao, Hua Jiang, Qingjun Wei
J Orthop Surg Res. 2018; 13: 47. Published online 2018 Mar 5. doi: 10.1186/s13018-018-0750-0
PMCID:
PMC5838857
AbstractArticlePDF–874K
9.
Type IX Collagen Neo-Deposition in Degenerative Discs of Surgical Patients Whether Genotyped Plus or Minus for COL9 Risk Alleles
Yong Zhu, Jiann-Jiu Wu, Mary Ann Weis, Sohail K. Mirza, David R. Eyre
Spine (Phila Pa 1976) Author manuscript; available in PMC 2012 Nov 15.
Published in final edited form as: Spine (Phila Pa 1976). 2011 Nov 15; 36(24): 2031–2038. doi: 10.1097/BRS.0b013e3181ffdd61
PMCID:
PMC3137765
AbstractArticlePDF–1.0M
10.
COL9A3: A third locus for multiple epiphyseal dysplasia.
P Paassilta, J Lohiniva, S Annunen, J Bonaventure, M Le Merrer, L Pai, L Ala-Kokko
Am J Hum Genet. 1999 Apr; 64(4): 1036–1044. doi: 10.1086/302328
Correction in:
Am J Hum Genet. 1999 Oct; 65(4): 1214.
PMCID:
PMC1377827
SummaryPDF–700K
11.
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
12.
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon
Ambroise Wonkam, Noluthando Manyisa, Christian D Bope, Collet Dandara, Emile R Chimusa
Hum Mol Genet. 2020 Dec 1; 29(23): 3729–3743. Published online 2020 Oct 20. doi: 10.1093/hmg/ddaa225
PMCID:
PMC7861016
AbstractArticlePDF–1.2M
13.
Structural insight for chain selection and stagger control in collagen
Sergei P. Boudko, Hans Peter Bächinger
Sci Rep. 2016; 6: 37831. Published online 2016 Nov 29. doi: 10.1038/srep37831
PMCID:
PMC5126661
AbstractArticlePDF–1.4M
14.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
Gail C Jackson, Dominique Marcus-Soekarman, Irene Stolte-Dijkstra, Aad Verrips, Jacqueline A Taylor, Michael D Briggs
Am J Med Genet A. 2010 Apr; 152A(4): 863–869. Published online 2012 Mar 26. doi: 10.1002/ajmg.a.33240
PMCID:
PMC3557369
AbstractArticlePDF–202K
15.
The NC2 Domain of Type IX Collagen Determines the Chain Register of the Triple Helix
Sergei P. Boudko, Hans Peter Bächinger
J Biol Chem. 2012 Dec 28; 287(53): 44536–44545. Published online 2012 Nov 6. doi: 10.1074/jbc.M112.417543
PMCID:
PMC3531767
AbstractArticlePDF–1.4M
16.
The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine
K. Higashino, Y. Matsui, S. Yagi, Y. Takata, T. Goto, T. Sakai, S. Katoh, N. Yasui
Int Orthop. 2007 Feb; 31(1): 107–111. Published online 2006 Apr 4. doi: 10.1007/s00264-006-0117-8
PMCID:
PMC2267527
AbstractArticlePDF–122K
17.
Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan.
D McCormick, M van der Rest, J Goodship, G Lozano, Y Ninomiya, B R Olsen
Proc Natl Acad Sci U S A. 1987 Jun; 84(12): 4044–4048. doi: 10.1073/pnas.84.12.4044
PMCID:
PMC305018
SummaryPage BrowsePDF–875K
18.
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
19.
A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity
Malwina Czarny-Ratajczak, Jaana Lohiniva, Piotr Rogala, Kazimierz Kozlowski, Merja Perälä, Liisa Carter, Tim D. Spector, Lukasz Kolodziej, Ulpu Seppänen, Renata Glazar, Jan Królewski, Anna Latos-Bielenska, Leena Ala-Kokko
Am J Hum Genet. 2001 Nov; 69(5): 969–980. Published online 2001 Sep 14. doi: 10.1086/324023
PMCID:
PMC1274373
AbstractArticlePDF–427K
20.
Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites.
M Diab, J J Wu, D R Eyre
Biochem J. 1996 Feb 15; 314(Pt 1): 327–332. doi: 10.1042/bj3140327
PMCID:
PMC1217044
SummaryPDF–483K

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