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Results: 1 to 20 of 94

1.

Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.

Rhee DK, Marcelino J, Al-Mayouf S, Schelling DK, Bartels CF, Cui Y, Laxer R, Goldbach-Mansky R, Warman ML.

J Biol Chem. 2005 Sep 2;280(35):31325-32. Epub 2005 Jul 5.

PMID:
16000300
[PubMed - indexed for MEDLINE]
Free Article
2.

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.

Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD.

J Clin Invest. 2005 Mar;115(3):622-31.

PMID:
15719068
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Disulfide-bonded multimers of proteoglycan 4 PRG4 are present in normal synovial fluids.

Schmidt TA, Plaas AH, Sandy JD.

Biochim Biophys Acta. 2009 May;1790(5):375-84. doi: 10.1016/j.bbagen.2009.03.016. Epub 2009 Mar 28.

PMID:
19332105
[PubMed - indexed for MEDLINE]
4.

Contribution of the conservative cleavage motif to posttranslational processing of the carboxyl terminal domain of rodent Muc3.

Li Y, Peng Z, He Y, Chen W, Bian X, Fang D, Wang R.

Mol Cell Biochem. 2008 Jun;313(1-2):155-66. doi: 10.1007/s11010-008-9753-1. Epub 2008 Apr 10.

PMID:
18401557
[PubMed - indexed for MEDLINE]
5.
6.

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML.

Nat Genet. 1999 Nov;23(3):319-22.

PMID:
10545950
[PubMed - indexed for MEDLINE]
7.

The MUC1 SEA module is a self-cleaving domain.

Levitin F, Stern O, Weiss M, Gil-Henn C, Ziv R, Prokocimer Z, Smorodinsky NI, Rubinstein DB, Wreschner DH.

J Biol Chem. 2005 Sep 30;280(39):33374-86. Epub 2005 Jun 29.

PMID:
15987679
[PubMed - indexed for MEDLINE]
Free Article
8.

Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients.

Albuhairan I, Al-Mayouf SM.

Semin Arthritis Rheum. 2013 Oct;43(2):292-6. doi: 10.1016/j.semarthrit.2012.11.004. Epub 2013 Jan 2.

PMID:
23290693
[PubMed - indexed for MEDLINE]
9.

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.

Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC.

J Med Genet. 2003 Jul;40(7):479-86.

PMID:
12843317
[PubMed - indexed for MEDLINE]
Free PMC Article
10.
11.

Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.

Hampe C, Ardila-Osorio H, Fournier M, Brice A, Corti O.

Hum Mol Genet. 2006 Jul 1;15(13):2059-75. Epub 2006 May 19.

PMID:
16714300
[PubMed - indexed for MEDLINE]
Free Article
12.

Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease.

Tjernberg P, Vos HL, Spaargaren-van Riel CC, Luken BM, Voorberg J, Bertina RM, Eikenboom JC.

Thromb Haemost. 2006 Dec;96(6):717-24.

PMID:
17139364
[PubMed - indexed for MEDLINE]
13.

Processing and secretion of the N-terminal domain of alpha-dystroglycan in cell culture media.

Saito F, Saito-Arai Y, Nakamura A, Shimizu T, Matsumura K.

FEBS Lett. 2008 Feb 6;582(3):439-44. doi: 10.1016/j.febslet.2008.01.006. Epub 2008 Jan 15.

PMID:
18201566
[PubMed - indexed for MEDLINE]
Free Article
14.

Bioregulation of lubricin expression by growth factors and cytokines.

Jones AR, Flannery CR.

Eur Cell Mater. 2007 Mar 20;13:40-5; discussion 45.

PMID:
17373642
[PubMed - indexed for MEDLINE]
Free Article
15.

Binding and localization of recombinant lubricin to articular cartilage surfaces.

Jones AR, Gleghorn JP, Hughes CE, Fitz LJ, Zollner R, Wainwright SD, Caterson B, Morris EA, Bonassar LJ, Flannery CR.

J Orthop Res. 2007 Mar;25(3):283-92.

PMID:
17106881
[PubMed - indexed for MEDLINE]
16.

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML.

Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11353-8. Epub 2001 Sep 18.

PMID:
11562478
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The glycosylation of human synovial lubricin: implications for its role in inflammation.

Estrella RP, Whitelock JM, Packer NH, Karlsson NG.

Biochem J. 2010 Jul 15;429(2):359-67. doi: 10.1042/BJ20100360.

PMID:
20443780
[PubMed - indexed for MEDLINE]
Free Article
18.

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, Hofer M, Dagoneau N, Sermet I, Munnich A, Cormier-Daire V.

Am J Med Genet. 2000 Nov 27;95(3):233-6.

PMID:
11102929
[PubMed - indexed for MEDLINE]
19.

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.

Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, Yokoyama H, Yoshida A, Tominaga S, Nagano J, Shimizu A, Wakana S, Gondo Y, Noda T, Shiroishi T, Ikegawa S.

Hum Mol Genet. 2007 Oct 1;16(19):2366-75. Epub 2007 Jul 26.

PMID:
17656374
[PubMed - indexed for MEDLINE]
Free Article
20.

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L.

Mol Genet Metab. 2008 Jul;94(3):305-12. doi: 10.1016/j.ymgme.2008.02.012. Epub 2008 Apr 10.

PMID:
18406185
[PubMed - indexed for MEDLINE]

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