A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
about
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosisLocalization of rat cathepsin K in osteoclasts and resorption pits: inhibition of bone resorption and cathepsin K-activity by peptidyl vinyl sulfonesCharacterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.Odanacatib treatment increases hip bone mass and cortical thickness by preserving endocortical bone formation and stimulating periosteal bone formation in the ovariectomized adult rhesus monkey.Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescenceClinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011ONO-5334, a cathepsin K inhibitor, improves bone strength by preferentially increasing cortical bone mass in ovariectomized rats.Arachidonic acid and docosahexaenoic acid suppress osteoclast formation and activity in human CD14+ monocytes, in vitroRNA therapeutics targeting osteoclast-mediated excessive bone resorption.Protein kinase C-delta deficiency perturbs bone homeostasis by selective uncoupling of cathepsin K secretion and ruffled border formation in osteoclastsOsteoclast-specific cathepsin K deletion stimulates S1P-dependent bone formationAnalysis of crucial molecules involved in herniated discs and degenerative disc diseaseMolecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.Cathepsin K inhibitors increase distal femoral bone mineral density in rapidly growing rabbitsHow rare bone diseases have informed our knowledge of complex diseases.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.Inherited diseases caused by mutations in cathepsin protease genes.Cathepsin K Deficiency Suppresses Disuse-Induced Bone Loss.Expression of cathepsin K in lung epithelial cells.Molecular biology of bone remodellingNovel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.Osteopetrosis
P2860
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P2860
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@ast
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@en
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@nl
type
label
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@ast
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@en
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@nl
prefLabel
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@ast
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@en
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@nl
P2093
P3181
P356
P1433
P1476
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
@en
P2093
C A Francomano
M H Polymeropoulos
M R Johnson
R I Ortiz de Luna
P304
P3181
P356
10.1101/GR.6.11.1050
P407
P577
1996-11-01T00:00:00Z