PMC Links for OMIM (Select 601105) - PMC

Select item 47219121.

Cathepsin K Contributes to Cavitation and Collagen Turnover in Pulmonary Tuberculosis

Andre Kubler, Christer Larsson, Brian Luna, Bruno B. Andrade, Eduardo P. Amaral, Michael Urbanowski, Marlene Orandle, Kevin Bock, Nicole C. Ammerman, Laurene S. Cheung, Kathryn Winglee, Marc Halushka, Jin Kyun Park, Alan Sher, Jon S. Friedland, Paul T. Elkington, William R. Bishai

J Infect Dis. 2016 Feb 15; 213(4): 618–627. Published online 2015 Sep 27. doi: 10.1093/infdis/jiv458

PMCID:: PMC4721912

Article PDF–1.3M

Select item 41480132.

Ptpn11 Deletion in A Novel Cartilage Cell Causes Metachondromatosis by Activating Hedgehog Signaling

Wentian Yang, Jianguo Wang, Douglas C. Moore, Haipei Liang, Mark Dooner, Qian Wu, Richard Terek, Qian Chen, Michael G. Ehrlich, Peter J. Quesenberry, Benjamin G. Neel

Nature. Author manuscript; available in PMC 2014 Aug 28.

Published in final edited form as: Nature. 2013 Jul 25; 499(7459): 491–495. Published online 2013 Jul 17. doi: 10.1038/nature12396

PMCID:: PMC4148013

Article PDF–1.3M

Select item 35785833.

Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence

Wei Chen, Shuying Yang, Yoke Abe, Ming Li, Yucheng Wang, Jianzhong Shao, En Li, Yi-Ping Li

Hum Mol Genet. Author manuscript; available in PMC 2013 Feb 21.

Published in final edited form as: Hum Mol Genet. 2007 Feb 15; 16(4): 410–423. Published online 2007 Jan 8. doi: 10.1093/hmg/ddl474

PMCID:: PMC3578583

Article PDF–12M

Select item 13770354.

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

B D Gelb, J P Willner, T M Dunn, N B Kardon, A Verloes, J Poncin, R J Desnick

Am J Hum Genet. 1998 Apr; 62(4): 848–854. doi: 10.1086/301795

PMCID:: PMC1377035

Summary PDF–916K

Select item 4081145.

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis

Wu-Shiun Hou, Dieter Brömme, Yingming Zhao, Ernest Mehler, Craig Dushey, Harel Weinstein, Clara Sa Miranda, Claudia Fraga, Fenella Greig, John Carey, David L. Rimoin, Robert J. Desnick, Bruce D. Gelb

J Clin Invest. 1999 Mar 1; 103(5): 731–738. doi: 10.1172/JCI653

PMCID:: PMC408114

Article PDF–367K

Select item 332936.

Linking osteopetrosis and pycnodysostosis: Regulation of cathepsin K expression by the microphthalmia transcription factor family

G. Motyckova, K. N. Weilbaecher, M. Horstmann, D. J. Rieman, D. Z. Fisher, D. E. Fisher

Proc Natl Acad Sci U S A. 2001 May 8; 98(10): 5798–5803. Published online 2001 May 1. doi: 10.1073/pnas.091479298

PMCID:: PMC33293

Article PDF–1.6M

Select item 248407.

Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice

Paul Saftig, Ernst Hunziker, Olaf Wehmeyer, Sheila Jones, Alan Boyde, Winfried Rommerskirch, Jörg Detlev Moritz, Peter Schu, Kurt von Figura

Proc Natl Acad Sci U S A. 1998 Nov 10; 95(23): 13453–13458. doi: 10.1073/pnas.95.23.13453

PMCID:: PMC24840

Article PDF–518K

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