PMC Links for Gene (Select 1289) - PMC

Lucia Micale, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, Marco Castori

Genes (Basel) 2021 Dec; 12(12): 1928. Published online 2021 Nov 29. doi: 10.3390/genes12121928

PMCID:: PMC8702215

Article PDF–1.3M

Select item 85015604.

Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482

Liubov O. Skorodumova, Alexandra V. Belodedova, Elena I. Sharova, Elena S. Zakharova, Liliia N. Iulmetova, Mukharram M. Bikbov, Emin L. Usubov, Olga P. Antonova, Oksana V. Selezneva, Anastasia Levchenko, Olga Yu Fedorenko, Svetlana A. Ivanova, Raul R. Gainetdinov, Boris E. Malyugin

BMC Ophthalmol. 2021; 21: 357. Published online 2021 Oct 8. doi: 10.1186/s12886-021-02128-6

PMCID:: PMC8501560

Article PDF–1.5M

Select item 84705115.

COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians

Bartosz Dalewski, Katarzyna Białkowska, Łukasz Pałka, Anna Jakubowska, Paweł Kiczmer, Ewa Sobolewska

Cells. 2021 Sep; 10(9): 2423. Published online 2021 Sep 14. doi: 10.3390/cells10092423

PMCID:: PMC8470511

Article PDF–3.1M

Select item 79533296.

A novel recurrent COL5A1 genetic variant is associated with a dysplasia-associated arterial disease exhibiting dissections and fibromuscular dysplasia

Julie Richer, Hannah L. Hill, Yu Wang, Min-Lee Yang, Kristina L. Hunker, Jamie Lane, Susan Blackburn, Dawn M. Coleman, Jonathan Eliason, Guillaume Sillon, Maria-Daniela D’Agostino, Prasad Jetty, François-Pierre Mongeon, Anne-Marie Laberge, Stephen E. Ryan, Natalia Fendrikova-Mahlay, Thais Coutinho, Michael R. Mathis, Matthew Zawistowski, Stanley L. Hazen, Alex E. Katz, Heather L. Gornik, Chad M. Brummett, Goncalo Abecasis, Ingrid L. Bergin, James C. Stanley, Jun Z. Li, Santhi K. Ganesh

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2020 Nov; 40(11): 2686–2699. Published online 2020 Sep 17. doi: 10.1161/ATVBAHA.119.313885

PMCID:: PMC7953329

Article PDF–1.3M

Select item 79075097.

Identification of Autoimmunity to Peptides of Collagen V α1 Chain as Newly Biomarkers of Early Stage of Systemic Sclerosis

Ana Paula Pereira Velosa, Lais Brito, Zelita Aparecida de Jesus Queiroz, Solange Carrasco, Jurandir Tomaz de Miranda, Cecília Farhat, Cláudia Goldenstein-Schainberg, Edwin Roger Parra, Danieli Castro Oliveira de Andrade, Pedro Leme Silva, Vera Luiza Capelozzi, Walcy Rosolia Teodoro

Front Immunol. 2020; 11: 604602. Published online 2021 Feb 12. doi: 10.3389/fimmu.2020.604602

PMCID:: PMC7907509

Article PDF–2.2M

Select item 71653858.

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair

Stefano Petrillo, Umile Giuseppe Longo, Katia Margiotti, Vincenzo Candela, Caterina Fusilli, Giacomo Rizzello, Alessandro De Luca, Vincenzo Denaro

BMC Med Genet. 2020; 21: 82. Published online 2020 Apr 17. doi: 10.1186/s12881-020-01022-0

PMCID:: PMC7165385

Article PDF–508K

Select item 68896579.

COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes

Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito, Noriyuki Fuku

BMC Med Genet. 2019; 20: 192. Published online 2019 Dec 2. doi: 10.1186/s12881-019-0928-2

PMCID:: PMC6889657

Article PDF–711K

Select item 682653810.

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Chloe Angwin, Angela F. Brady, Marina Colombi, David J. P. Ferguson, Rebecca Pollitt, F. Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S. van Dijk

Genes (Basel) 2019 Oct; 10(10): 762. Published online 2019 Sep 27. doi: 10.3390/genes10100762

PMCID:: PMC6826538

Article PDF–1.3M

Select item 630242711.

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

Umile Giuseppe Longo, Katia Margiotti, Stefano Petrillo, Giacomo Rizzello, Caterina Fusilli, Nicola Maffulli, Alessandro De Luca, Vincenzo Denaro

BMC Med Genet. 2018; 19: 217. Published online 2018 Dec 20. doi: 10.1186/s12881-018-0727-1

PMCID:: PMC6302427

Article PDF–556K

Select item 568843512.

COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby

Shane M. Heffernan, Liam P. Kilduff, Robert M. Erskine, Stephen H. Day, Georgina K. Stebbings, Christian J. Cook, Stuart M. Raleigh, Mark A. Bennett, Guan Wang, Malcolm Collins, Yannis P. Pitsiladis, Alun G. Williams

BMC Genomics. 2017; 18(Suppl 8): 820. Published online 2017 Nov 14. doi: 10.1186/s12864-017-4187-3

PMCID:: PMC5688435

Article PDF–421K

Select item 415474113.

Is the COL5A1 rs12722 Gene Polymorphism Associated with Running Economy?

Rômulo Bertuzzi, Leonardo A. Pasqua, Salomão Bueno, Adriano Eduardo Lima-Silva, Monique Matsuda, Monica Marquezini, Paulo H. Saldiva

PLoS One. 2014; 9(9): e106581. Published online 2014 Sep 4. doi: 10.1371/journal.pone.0106581

PMCID:: PMC4154741

Article PDF–332K

Select item 399961714.

Characterization of Tissue-Specific and Developmentally Regulated Alternative Splicing of Exon 64 in the COL5A1 Gene

Anna L. Mitchell, LuAnn M. Judis, Ulrike Schwarze, Polina M. Vaynshtok, Mitchell L. Drumm, Byers Byers

Connect Tissue Res. Author manuscript; available in PMC 2014 Apr 25.

Published in final edited form as: Connect Tissue Res. 2012; 53(3): 267–276. Published online 2011 Dec 7. doi: 10.3109/03008207.2011.636160

PMCID:: PMC3999617

Article PDF–2.9M

Select item 363082215.

Genetic Association of COL5A1 Variants in Keratoconus Patients Suggests a Complex Connection between Corneal Thinning and Keratoconus

Xiaohui Li, Yelena Bykhovskaya, Ana Laura Caiado Canedo, Talin Haritunians, David Siscovick, Anthony J. Aldave, Loretta Szczotka-Flynn, Sudha K. Iyengar, Jerome I. Rotter, Kent D. Taylor, Yaron S. Rabinowitz

Invest Ophthalmol Vis Sci. 2013 Apr; 54(4): 2696–2704. Published online 2013 Apr 12. doi: 10.1167/iovs.13-11601

PMCID:: PMC3630822

Article PDF–644K

Select item 309665816.

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx, Anne De Paepe

PLoS One. 2011; 6(5): e20121. Published online 2011 May 17. doi: 10.1371/journal.pone.0020121

PMCID:: PMC3096658

Article PDF–1009K

Select item 288294717.

Switch from Stress Response to Homeobox Transcription Factors in Adipose Tissue After Profound Fat Loss

Simon N. Dankel, Dag J. Fadnes, Anne-Kristin Stavrum, Christine Stansberg, Rita Holdhus, Tuyen Hoang, Vivian L. Veum, Bjørn Jostein Christensen, Villy Våge, Jørn V. Sagen, Vidar M. Steen, Gunnar Mellgren

PLoS One. 2010; 5(6): e11033. Published online 2010 Jun 9. doi: 10.1371/journal.pone.0011033

PMCID:: PMC2882947

Article PDF–824K

Select item 283478018.

Differential Expression of Collagen Type V and XI a-1 in Human Ascending Thoracic Aortic Aneurysms

Ioannis K. Toumpoulis, Julia Thom Oxford, Douglas B. Cowan, Constantine E. Anagnostopoulos, Chris K. Rokkas, Themistocles P. Chamogeorgakis, Dimitrios C. Angouras, Richard J. Shemin, Mohamad Navab, Maria Ericsson, Micheline Federman, Sidney Levitsky, James D. McCully

Ann Thorac Surg. Author manuscript; available in PMC 2010 Mar 8.

Published in final edited form as: Ann Thorac Surg. 2009 Aug; 88(2): 506–513. doi: 10.1016/j.athoracsur.2009.04.030

PMCID:: PMC2834780

Article PDF–2.0M

Select item 171250119.

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

A De Paepe, L Nuytinck, I Hausser, I Anton-Lamprecht, J M Naeyaert

Am J Hum Genet. 1997 Mar; 60(3): 547–554.

PMCID:: PMC1712501

Summary Page Browse PDF–2.2M

Select item 137806020.

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

U Schwarze, M Atkinson, G G Hoffman, D S Greenspan, P H Byers

Am J Hum Genet. 2000 Jun; 66(6): 1757–1765. Published online 2000 May 4. doi: 10.1086/302933

PMCID:: PMC1378060

Summary PDF–1.2M

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