Pycnodysostosis

Known as: PKND, PYCD, MAROTEAUX-LAMY SYNDROME 2 
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and… (More)
National Institutes of Health

Papers overview

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2014
2014
Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized… (More)
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2011
2011
Pycnodysostosis is an extremely rare genetic osteosclerosis caused by cathepsin K deficiency. It is a human autosomal recessive… (More)
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Review
2004
Review
2004
Pycnodysostosis is an uncommon human genetic disorder characterized by osteosclerosis of the skeleton, short stature, and bone… (More)
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Highly Cited
2001
Highly Cited
2001
Various genetic conditions produce dysfunctional osteoclasts resulting in osteopetrosis or osteosclerosis. These include human… (More)
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1999
1999
Cathepsin K, a lysosomal cysteine protease critical for bone remodeling by osteoclasts, was recently identified as the deficient… (More)
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Highly Cited
1999
Highly Cited
1999
Cathepsin K is a cysteine protease expressed predominantly in osteoclasts. Activated cathepsin K cleaves key bone matrix proteins… (More)
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Highly Cited
1998
Highly Cited
1998
Cathepsin K is a recently identified lysosomal cysteine proteinase. It is abundant in osteoclasts, where it is believed to play a… (More)
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Highly Cited
1996
Highly Cited
1996
Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to… (More)
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1996
1996
Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial… (More)
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1995
1995
Pycnodysostosis is an autosomal recessive sclerosing skeletal dysplasia of unknown aetiology which is inherited with complete… (More)
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