Craniosynostosis: A rare complication of pycnodysostosis
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Alves Pereira, 2008, Pycnodysostosis. A report of 3 clinical cases, Med. Oral Patol. Oral Cir. Bucal, 13, E633
Bartsocas, 2002, Pycnodysostosis: Toulouse-Lautrec's and Aesop's disease?, Hormones (Athens), 1, 260, 10.14310/horm.2002.1177
Bernard, 1980, Pycnodysostose et crâniosténose, Ann. Pédiat., 27, 383
Chen, 2007, Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence, Hum. Mol. Genet., 16, 410, 10.1093/hmg/ddl474
Donnarumma, 2007, Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961, Online Hum. Mutat., 28, 524, 10.1002/humu.9490
Gelb, 1996, Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency, Science, 273, 1236, 10.1126/science.273.5279.1236
Ho, 1999, Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein, J. Bone Miner Res., 14, 1649, 10.1359/jbmr.1999.14.10.1649
Hou, 1999, Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis, J. Clin. Invest., 103, 731, 10.1172/JCI653
Inaoka, 1995, Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone, Biochem. Biophys. Res. Commun., 206, 89, 10.1006/bbrc.1995.1013
Li, 2006, Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass, J. Bone Miner Res., 21, 865, 10.1359/jbmr.060313
Li, 1995, Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas, J. Bone Miner Res., 10, 1197, 10.1002/jbmr.5650100809
Motyckova, 2002, Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease, Curr. Mol. Med., 2, 407, 10.2174/1566524023362401
Ornetti, 2008, Pedicle stress fracture: an unusual complication of pycnodysostosis, Clin. Rheumatol., 27, 385, 10.1007/s10067-007-0740-9
Rantakokko, 1996, Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development, FEBS Lett., 393, 307, 10.1016/0014-5793(96)00907-6
Schilling, 2007, High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K, Osteoporos. Int., 18, 659, 10.1007/s00198-006-0311-y