Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 1999

Ho N, Punturieri A, Wilkin D, Szabo J, Johnson M, Whaley J, Davis J, Clark A, Weiss S, Francomano C

Abstract excerpt

Pycnodyostosis, an autosomal recessive osteosclerosing skeletal disorder, has recently been shown to result from mutations in the cathepsin K gene. Cathepsin K, a lysosomal cysteine protease with an abundant expression in osteoclasts, has been implicated in osteoclast-mediated bone resorption and remodeling. DNA sequence analysis of the cathepsin K gene in a nonconsanguineous family demonstrated compound...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cathepsin K
Share to Cathepsins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Dysostoses

Share to Micrognathism

Share to Mutation

Share to Mutation, Missense

Source

Identifiers

PMID: 10491211
DOI: 10.1359/jbmr.1999.14.10.1649

Genes

CTSK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.PMID 10491211Read ↗

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.Semantic proximity Read ↗

Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).Semantic proximity Read ↗

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.Semantic proximity Read ↗

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.Semantic proximity Read ↗

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.Semantic proximity Read ↗

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.Semantic proximity Read ↗

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.Semantic proximity Read ↗

Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease.Semantic proximity Read ↗

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.Semantic proximity Read ↗

A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.Semantic proximity Read ↗

Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis.Semantic proximity Read ↗

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.