PMC Links for Gene (Select 1290) - PMC

Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi

Orphanet J Rare Dis. 2013; 8: 58. Published online 2013 Apr 12. doi: 10.1186/1750-1172-8-58

PMCID:: PMC3653713

Article PDF–3.0M

Select item 32600949.

Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads

Solveig Myking, Ronny Myhre, Håkon K Gjessing, Nils-Halvdan Morken, Verena Sengpiel, Scott M Williams, Kelli K Ryckman, Per Magnus, Bo Jacobsson

BMC Med Genet. 2011; 12: 174. Published online 2011 Dec 30. doi: 10.1186/1471-2350-12-174

PMCID:: PMC3260094

Article PDF–345K

Select item 324809710.

A shift in the collagen V antigenic epitope leads to T helper phenotype switch and immune response to self-antigen leading to chronic lung allograft rejection

V Tiriveedhi, N Angaswamy, D Brand, J Weber, A G Gelman, R Hachem, E P Trulock, B Meyers, G Patterson, T Mohanakumar

Clin Exp Immunol. 2012 Jan; 167(1): 158–168. doi: 10.1111/j.1365-2249.2011.04486.x

PMCID:: PMC3248097

Article PDF–476K

Select item 289667311.

The Collagen V Homotrimer [α1(V)]₃ Production Is Unexpectedly Favored over the Heterotrimer [α1(V)]₂α2(V) in Recombinant Expression Systems

Muriel Roulet, Merja Välkkilä, Hélène Chanut-Delalande, Eija-Riitta Hämäläinen, Efrat Kessler, Leena Ala-Kokko, Minna Männikkö, Christelle Bonod-Bidaud, Florence Ruggiero

J Biomed Biotechnol. 2010; 2010: 376927. Published online 2010 Jun 27. doi: 10.1155/2010/376927

PMCID:: PMC2896673

Article PDF–1.9M

Select item 105146212.

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

A J Richards, S Martin, A C Nicholls, J B Harrison, F M Pope, N P Burrows

J Med Genet. 1998 Oct; 35(10): 846–848. doi: 10.1136/jmg.35.10.846

PMCID:: PMC1051462

Summary Page Browse PDF–801K

Select item 39778013.

Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

B S Emanuel, L A Cannizzaro, J M Seyer, J C Myers

Proc Natl Acad Sci U S A. 1985 May; 82(10): 3385–3389. doi: 10.1073/pnas.82.10.3385

PMCID:: PMC397780

Summary Page Browse PDF–1.4M

Select item 1078922414.

The Chemistry and Biology of Collagen Hybridization

Xiaojing Li, Qi Zhang, S. Michael Yu, Yang Li

J Am Chem Soc. Author manuscript; available in PMC 2024 Jan 15.

Published in final edited form as: J Am Chem Soc. 2023 May 24; 145(20): 10901–10916. Published online 2023 May 9. doi: 10.1021/jacs.3c00713

PMCID:: PMC10789224

Article PDF–2.2M

Select item 876751215.

lncRNA BZRAP1‐AS1 alleviates rheumatoid arthritis by regulating miR‐1286/COL5A2 axis

Junsong Zhu, Shaoheng Tu, Qunwei Qu

Immun Inflamm Dis. 2022 Feb; 10(2): 163–174. Published online 2021 Nov 11. doi: 10.1002/iid3.558

PMCID:: PMC8767512

Article PDF–3.8M

Select item 707754216.

Foxf2 and Smad6 co‐regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion

Guobin Chen, Limin Liu, Jing Sun, Liying Zeng, Huihua Cai, Yuanli He

J Cell Mol Med. 2020 Mar; 24(5): 2802–2818. Published online 2020 Feb 5. doi: 10.1111/jcmm.14708

PMCID:: PMC7077542

Article PDF–3.2M

Select item 137804417.

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

R J Wenstrup, J B Florer, M C Willing, C Giunta, B Steinmann, F Young, M Susic, W G Cole

Am J Hum Genet. 2000 Jun; 66(6): 1766–1776. Published online 2000 Apr 24. doi: 10.1086/302930

PMCID:: PMC1378044

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Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura, Guy G. Hoffman, Helga Toriello, Lynne T. Smith, Peter H. Byers, Daniel S. Greenspan

Am J Hum Genet. 2002 Sep; 71(3): 451–465. Published online 2002 Jul 17. doi: 10.1086/342099

PMCID:: PMC379186

Article PDF–575K

Select item 811270819.

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres i Soler, Maria A. Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch

PLoS One. 2021; 16(5): e0251289. Published online 2021 May 11. doi: 10.1371/journal.pone.0251289

PMCID:: PMC8112708

Article PDF–1.2M

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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Janine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, Katharina Spanaus, Cecilia Giunta, Sira Alonso, Eliane Arnold, Caroline Henggeler, Stephan Regenass, Andrea Patrignani, Silvia Azzarello-Burri, Bernhard Steiner, Anders OH Nygren, Thierry Carrel, Beat Steinmann, Gábor Mátyás

Eur J Hum Genet. 2010 Dec; 18(12): 1315–1321. Published online 2010 Jul 21. doi: 10.1038/ejhg.2010.105