ReviewOrphanet journal of rare diseases2011
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
Review in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 123 citations in OpenAlex.
- Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review.Brazilian journal of otorhinolaryngologyPooled it
- Increased Bone Resorption during Lactation in Pycnodysostosis.International journal of molecular sciences · 2021Trial
- Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.Human genetics · 2026Article
- Heparan sulfate promotes autoactivation of procathepsin K by destabilizing the propeptide-catalytic domain interaction.The Biochemical journal · 2026Article
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- Healing fragile bones: a case report on hyperbaric oxygen therapy in pycnodysostosis.Diving and hyperbaric medicine · 2025Article
- Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinology · 2025Review
- Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.Hormone research in paediatrics · 2025Article
- Case Report: A Novel Homozygous Variant of theInternational journal of molecular sciences · 2024Article
- Genetic background of walking ability and its relationship with leg defects, mortality, and performance traits in turkeys (Meleagris gallopavo).Poultry science · 2024Article
- Heparan sulfate selectively inhibits the collagenase activity of cathepsin K.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.Journal of clinical medicine · 2024Article
- Heparan sulfate selectively inhibits the collagenase activity of cathepsin K.bioRxiv : the preprint server for biology · 2024Article
- Elucidating the role of RBM5 in osteoclastogenesis: a novel potential therapeutic target for osteoporosis.BMC musculoskeletal disorders · 2023Article
- Analysis of cuproptosis-related genes in Ulcerative colitis and immunological characterization based on machine learning.Frontiers in medicine · 2023Article
- Cathepsin K Mutation-A Subtle Clinical Presentation.Journal of the Endocrine Society · 2022Article
- Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.Molecular genetics & genomic medicine · 2022Article
- A First-Case Report of Pycnodysostosis in an Omani Boy.Journal of pediatric genetics · 2022Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 mutations and/or the clinical phenotypes of pycnodysostosis. Thirty three different CTSK mutations have been found in 59 unrelated pycnodysostosis families. Of the 59 families, 37.29% are from Europe and 30.51% are from Asia. A total of 69.70% of the mutations were identified in the mature domain of CTSK, 24.24% in the proregion, and 6.06% in the preregion. The hot mutation spots are found in exons 6 and 7. CTSK mutations result in total loss or inactivity of the CTSK protein, which causes abnormal degradation of bone matrix proteins such as type I collagen. Skeletal abnormalities, including short stature, an increase in bone density with pathologic fractures, and open fontanels and sutures, are the typical phenotypes of pycnodysostosis. Research on Ctsk(-/-) mouse models was also reviewed here to elucidate the biological function of Ctsk and the mechanism of pycnodysostosis. New evidence suggests that Ctsk plays an important role in the immune system and may serve as a valid therapeutic target in the future treatment of pycnodysostosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.