PubMed (GeneRIF) for id: 1293

Year	Number of Results
2002	4
2004	1
2005	1
2006	2
2008	2
2009	3
2010	3
2013	1
2014	5
2015	6
2016	3
2017	2
2018	6
2019	6
2020	8
2021	2
2023	3
2024	0

1

Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence.

Savić R, Yang J, Koplev S, An MC, Patel PL, O'Brien RN, Dubose BN, Dodatko T, Rogatsky E, Sukhavasi K, Ermel R, Ruusalepp A, Houten SM, Kovacic JC, Stewart AF, Yohn CB, Schadt EE, Laberge RM, Björkegren JLM, Tu Z, Argmann C. Savić R, et al. Cell Rep. 2023 Nov 28;42(11):113371. doi: 10.1016/j.celrep.2023.113371. Epub 2023 Nov 7. Cell Rep. 2023. PMID: 37938972 Free PMC article.

2

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D. Zanotti S, et al. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.

3

Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.

Attri S, Lone M, Katiyar A, Sharma V, Kumar V, Verma C, Gahlawat SK. Attri S, et al. Genes (Basel). 2023 Feb 24;14(3):567. doi: 10.3390/genes14030567. Genes (Basel). 2023. PMID: 36980840 Free PMC article.

4

Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.

Jin CY, Zheng R, Lin ZH, Xue NJ, Chen Y, Gao T, Yan YQ, Fang Y, Yan YP, Yin XZ, Tian J, Pu JL, Zhang BR. Jin CY, et al. BMC Neurol. 2021 May 8;21(1):187. doi: 10.1186/s12883-021-02215-7. BMC Neurol. 2021. PMID: 33964895 Free PMC article.

5

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658

6

COL6A3 expression in adipose tissue cells is associated with levels of the homeobox transcription factor PRRX1.

Dankel SN, Grytten E, Bjune JI, Nielsen HJ, Dietrich A, Blüher M, Sagen JV, Mellgren G. Dankel SN, et al. Sci Rep. 2020 Nov 19;10(1):20164. doi: 10.1038/s41598-020-77406-2. Sci Rep. 2020. PMID: 33214660 Free PMC article.

7

Identification of Key Prognostic Biomarker and Its Correlation with Immune Infiltrates in Pancreatic Ductal Adenocarcinoma.

Luan H, Zhang C, Zhang T, He Y, Su Y, Zhou L. Luan H, et al. Dis Markers. 2020 Aug 31;2020:8825997. doi: 10.1155/2020/8825997. eCollection 2020. Dis Markers. 2020. PMID: 32934754 Free PMC article.

8

Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.

Solomon-Degefa H, Gebauer JM, Jeffries CM, Freiburg CD, Meckelburg P, Bird LE, Baumann U, Svergun DI, Owens RJ, Werner JM, Behrmann E, Paulsson M, Wagener R. Solomon-Degefa H, et al. J Biol Chem. 2020 Sep 4;295(36):12755-12771. doi: 10.1074/jbc.RA120.014865. Epub 2020 Jul 21. J Biol Chem. 2020. PMID: 32719005 Free PMC article.

9

Single cell sequencing revealed the underlying pathogenesis of the development of osteoarthritis.

Li C, Luo J, Xu X, Zhou Z, Ying S, Liao X, Wu K. Li C, et al. Gene. 2020 Oct 5;757:144939. doi: 10.1016/j.gene.2020.144939. Epub 2020 Jul 5. Gene. 2020. PMID: 32640306

10

Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panadés-de Oliveira L, Domínguez-González C, Inashkina I, Kidere D, Chrestian N, Lace B. Stavusis J, et al. Neuromuscul Disord. 2020 Jun;30(6):483-491. doi: 10.1016/j.nmd.2020.03.010. Epub 2020 Apr 18. Neuromuscul Disord. 2020. PMID: 32448721

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