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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.
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
4.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
5.
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
6.
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
7.
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
8.
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
9.
Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D
Susan A. Kennedy, Mohamed-Ali Jarboui, Sriganesh Srihari, Cinzia Raso, Kenneth Bryan, Layal Dernayka, Theodosia Charitou, Manuel Bernal-Llinares, Carlos Herrera-Montavez, Aleksandar Krstic, David Matallanas, Max Kotlyar, Igor Jurisica, Jasna Curak, Victoria Wong, Igor Stagljar, Thierry LeBihan, Lisa Imrie, Priyanka Pillai, Miriam A. Lynn, Erik Fasterius, Cristina Al-Khalili Szigyarto, James Breen, Christina Kiel, Luis Serrano, Nora Rauch, Oleksii Rukhlenko, Boris N. Kholodenko, Luis F. Iglesias-Martinez, Colm J. Ryan, Ruth Pilkington, Patrizia Cammareri, Owen Sansom, Steven Shave, Manfred Auer, Nicola Horn, Franziska Klose, Marius Ueffing, Karsten Boldt, David J. Lynn, Walter Kolch
Nat Commun. 2020; 11: 499. Published online 2020 Jan 24. doi: 10.1038/s41467-019-14224-9
PMCID:
PMC6981206
AbstractArticlePDF–3.7M
10.
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
11.
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
12.
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
13.
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
14.
Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver
Alexandra Naba, Karl R Clauser, Charles A Whittaker, Steven A Carr, Kenneth K Tanabe, Richard O Hynes
BMC Cancer. 2014; 14: 518. Published online 2014 Jul 18. doi: 10.1186/1471-2407-14-518
PMCID:
PMC4223627
AbstractArticlePDF–1.5M
15.
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
16.
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
17.
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
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.
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
20.
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

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