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Article

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

Orphanet journal of rare diseases - 10 May 2011

Xue Yang, Cai Tao, Shi Songtao, Wang Weiguang, Zhang Yanli, Mao Tianqiu, Duan Xiaohong

Abstract excerpt

Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the advances in the research about CTSK and pycnodysostosis, we performed a literature retrospective study of 159 pycnodysostosis patients reported since 1996 and focused on the genetic characteristics of CTSK...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21569238
DOI: 10.1186/1750-1172-6-20
PMCID: PMC3113317

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.

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