PMC Links for Protein (Select 89276751) - PMC

Select item 68896571.

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

Abstract Article PDF–711K

Select item 39996172.

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

Abstract Article PDF–2.9M

Select item 11358483.

Transcriptional promoter of the human alpha 1(V) collagen gene (COL5A1).

S Lee, D S Greenspan

Biochem J. 1995 Aug 15; 310(Pt 1): 15–22. doi: 10.1042/bj3100015

PMCID:: PMC1135848

Summary Page Browse PDF–1.9M

Select item 68265384.

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

Abstract Article PDF–1.3M

Select item 42365745.

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton, Marina Colombi

BMC Med Genet. 2014; 15: 91. Published online 2014 Aug 28. doi: 10.1186/s12881-014-0091-8

PMCID:: PMC4236574

Abstract Article PDF–1.0M

Select item 36537136.

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

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

Abstract Article PDF–3.0M

Select item 29971037.

Collagens

Marion K. Gordon, Rita A. Hahn

Cell Tissue Res. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Cell Tissue Res. 2010 Jan; 339(1): 247–257. Published online 2009 Aug 20. doi: 10.1007/s00441-009-0844-4

PMCID:: PMC2997103

Abstract Article PDF–933K

Select item 27945498.

Critical Early Roles for col27a1a and col27a1b in Zebrafish Notochord Morphogenesis, Vertebral Mineralization and Post-embryonic Axial Growth

Helena E. Christiansen, Michael R. Lang, James M. Pace, David M. Parichy

PLoS One. 2009; 4(12): e8481. Published online 2009 Dec 29. doi: 10.1371/journal.pone.0008481

PMCID:: PMC2794549

Abstract Article PDF–728K

Select item 16365409.

Hagfish and lancelet fibrillar collagens reveal that type II collagen-based cartilage evolved in stem vertebrates

GuangJun Zhang, Martin J. Cohn

Proc Natl Acad Sci U S A. 2006 Nov 7; 103(45): 16829–16833. Published online 2006 Oct 31. doi: 10.1073/pnas.0605630103

PMCID:: PMC1636540

Abstract Article PDF–518K

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