PMC Links for OMIM (Select 600310) - PMC

Select item 73717361.

Mutations in COMP cause familial carpal tunnel syndrome

Chunyu Li, Ni Wang, Alejandro A. Schäffer, Xilin Liu, Zhuo Zhao, Gene Elliott, Lisa Garrett, Nga Ting Choi, Yueshu Wang, Yufa Wang, Cheng Wang, Jin Wang, Danny Chan, Peiqiang Su, Shusen Cui, Yingzi Yang, Bo Gao

Nat Commun. 2020; 11: 3642. Published online 2020 Jul 20. doi: 10.1038/s41467-020-17378-z

Correction in:: Nat Commun. 2020; 11: 3931.

PMCID:: PMC7371736

Abstract Article PDF–5.9M

Select item 33911502.

Collagen XII and XIV, New Partners of Cartilage Oligomeric Matrix Protein in the Skin Extracellular Matrix Suprastructure

Pallavi Agarwal, Daniela Zwolanek, Douglas R. Keene, Jan-Niklas Schulz, Katrin Blumbach, Dick Heinegård, Frank Zaucke, Mats Paulsson, Thomas Krieg, Manuel Koch, Beate Eckes

J Biol Chem. 2012 Jun 29; 287(27): 22549–22559. Published online 2012 May 9. doi: 10.1074/jbc.M111.335935

PMCID:: PMC3391150

Abstract Article PDF–2.6M

Select item 33207583.

A Novel Form of Chondrocyte Stress is Triggered by a COMP Mutation Causing Pseudoachondroplasia

Farhana Suleman, Benedetta Gualeni, Hannah J Gregson, Matthew P Leighton, Katarzyna A Piróg, Sarah Edwards, Paul Holden, Raymond P Boot-Handford, Michael D Briggs

Hum Mutat. 2012 Jan; 33(1): 218–231. Published online 2011 Oct 17. doi: 10.1002/humu.21631

PMCID:: PMC3320758

Abstract Article PDF–733K

Select item 27921484.

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

Katarzyna A. Piróg, Oihane Jaka, Yoshihisa Katakura, Roger S. Meadows, Karl E. Kadler, Raymond P. Boot-Handford, Michael D. Briggs

Hum Mol Genet. 2010 Jan 1; 19(1): 52–64. Published online 2009 Oct 6. doi: 10.1093/hmg/ddp466

PMCID:: PMC2792148

Abstract Article PDF–447K

Select item 17353475.

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

E Jakkula, J Lohiniva, A Capone, L Bonafe, M Marti, V Schuster, A Giedion, G Eich, E Boltshauser, L Ala-Kokko, A Superti-Furga

J Med Genet. 2003 Dec; 40(12): 942–948. doi: 10.1136/jmg.40.12.942

PMCID:: PMC1735347

Summary PDF–441K

Select item 14839276.

ADAMTS-7: a metalloproteinase that directly binds to and degrades cartilage oligomeric matrix protein

Chuan-ju Liu, Wei Kong, Kiril Ilalov, Shuang Yu, Ke Xu, Lisa Prazak, Marc Fajardo, Bantoo Sehgal, Paul E. Di Cesare

FASEB J. Author manuscript; available in PMC 2006 Jun 30.

Published in final edited form as: FASEB J. 2006 May; 20(7): 988–990. Published online 2006 Apr 3. doi: 10.1096/fj.05-3877fje

PMCID:: PMC1483927

Abstract Article PDF–673K

Select item 13768897.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

M D Briggs, G R Mortier, W G Cole, L M King, S S Golik, J Bonaventure, L Nuytinck, A De Paepe, J G Leroy, L Biesecker, M Lipson, W R Wilcox, R S Lachman, D L Rimoin, R G Knowlton, D H Cohn

Am J Hum Genet. 1998 Feb; 62(2): 311–319. doi: 10.1086/301713

PMCID:: PMC1376889

Summary PDF–685K

Select item 1504148.

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways

Robert Dinser, Frank Zaucke, Florian Kreppel, Kjell Hultenby, Stefan Kochanek, Mats Paulsson, Patrik Maurer

J Clin Invest. 2002 Aug 15; 110(4): 505–513. doi: 10.1172/JCI14386

PMCID:: PMC150414

Abstract Article PDF–2.4M

Select item 1338709.

Cartilage Oligomeric Matrix Protein-Deficient Mice Have Normal Skeletal Development

Liz Svensson, Attila Aszódi, Dick Heinegård, Ernst B. Hunziker, Finn P. Reinholt, Reinhard Fässler, Åke Oldberg

Mol Cell Biol. 2002 Jun; 22(12): 4366–4371. doi: 10.1128/MCB.22.12.4366-4371.2002

PMCID:: PMC133870

Abstract Article PDF–415K

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