PMC Links for Protein (Select 48762934) - PMC

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Items: 13

Select item 63602441.

Clinical significance and biological role of cancer‐derived Type I collagen in lung and esophageal cancers

Shuo Fang, Yongdong Dai, Yan Mei, Mingming Yang, Liang Hu, Hong Yang, Xininyuan Guan, Jiangchao Li

Thorac Cancer. 2019 Feb; 10(2): 277–288. Published online 2019 Jan 3. doi: 10.1111/1759-7714.12947

PMCID:: PMC6360244

Abstract Article PDF–12M

Select item 65454542.

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

Thunyaporn Budsamongkol, Narin Intarak, Thanakorn Theerapanon, Somchai Yodsanga, Thantrira Porntaveetus, Vorasuk Shotelersuk

Genes Dis. 2019 Jun; 6(2): 138–146. Published online 2019 Mar 16. doi: 10.1016/j.gendis.2019.03.001

PMCID:: PMC6545454

Abstract Article PDF–3.3M

Select item 65030113.

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan

Mol Genet Genomic Med. 2019 May; 7(5): e619. Published online 2019 Mar 4. doi: 10.1002/mgg3.619

PMCID:: PMC6503011

Abstract Article PDF–677K

Select item 58236774.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J. Coucke

Mol Genet Genomic Med. 2018 Jan; 6(1): 15–26. Published online 2017 Nov 18. doi: 10.1002/mgg3.331

PMCID:: PMC5823677

Abstract Article PDF–431K

Select item 48980635.

Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations

Jianxi Xiao, Zhangfu Yang, Xiuxia Sun, Rayna Addabbo, Jean Baum

J Struct Biol. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: J Struct Biol. 2015 Oct; 192(1): 127–137. Published online 2015 May 15. doi: 10.1016/j.jsb.2015.05.002

PMCID:: PMC4898063

Abstract Article PDF–2.1M

Select item 48184216.

Bioinformatics analysis of proteomics profiles in senescent human primary proximal tubule epithelial cells

Yang Lu, Jingchao Wang, Chen Dapeng, Di Wu, Guangyan Cai, Xiangmei Chen

BMC Nephrol. 2016; 17: 39. Published online 2016 Apr 1. doi: 10.1186/s12882-016-0249-z

PMCID:: PMC4818421

Abstract Article PDF–2.7M

Select item 32345097.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur S van Dijk, Peter H Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A Sistermans, Gerard Pals

Eur J Hum Genet. 2012 Jan; 20(1): 11–19. Published online 2011 Aug 10. doi: 10.1038/ejhg.2011.141

PMCID:: PMC3234509

Abstract Article PDF–495K

Select item 31940598.

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

Antonella Fuccio, Mariangela Iorio, Felice Amato, Ausilia Elce, Rosaria Ingino, Mirella Filocamo, Giuseppe Castaldo, Francesco Salvatore, Rossella Tomaiuolo

J Mol Diagn. 2011 Nov; 13(6): 648–656. doi: 10.1016/j.jmoldx.2011.06.006

PMCID:: PMC3194059

Abstract Article PDF–613K

Select item 29971039.

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 288310410.

A role for human endogenous retrovirus-K (HML-2) in rheumatoid arthritis: investigating mechanisms of pathogenesis

G Freimanis, P Hooley, H Davari Ejtehadi, H A Ali, A Veitch, P B Rylance, A Alawi, J Axford, A Nevill, P G Murray, P N Nelson

Clin Exp Immunol. 2010 Jun; 160(3): 340–347. doi: 10.1111/j.1365-2249.2010.04110.x

PMCID:: PMC2883104

Abstract Article PDF–343K

Select item 279454911.

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 278146312.

Blom7α Is a Novel Heterogeneous Nuclear Ribonucleoprotein K Homology Domain Protein Involved in Pre-mRNA Splicing That Interacts with SNEV^Prp19-Pso4

Johannes Grillari, Marlies Löscher, Marco Denegri, Kiseok Lee, Klaus Fortschegger, Frank Eisenhaber, Paul Ajuh, Angus I. Lamond, Hermann Katinger, Regina Grillari-Voglauer

J Biol Chem. 2009 Oct 16; 284(42): 29193–29204. Published online 2009 Jul 29. doi: 10.1074/jbc.M109.036632

PMCID:: PMC2781463

Abstract Article PDF–3.9M

Select item 247570113.

Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates

Shawn M. Sweeney, Joseph P. Orgel, Andrzej Fertala, Jon D. McAuliffe, Kevin R. Turner, Gloria A. Di Lullo, Steven Chen, Olga Antipova, Shiamalee Perumal, Leena Ala-Kokko, Antonella Forlino, Wayne A. Cabral, Aileen M. Barnes, Joan C. Marini, James D. San Antonio

J Biol Chem. 2008 Jul 25; 283(30): 21187–21197. doi: 10.1074/jbc.M709319200