Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.G79R
Back to variants list

CTSK

NM_000396.4:p.G79R

Associated Papers

Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.

Kannan P et al.

Journal of Biomolecular Structure & Dynamics, 2024

37255004 (PubMed )
Supplement: supplement_1.docx

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

Mushiba AM et al.

American Journal of Medical Genetics. Part A, 2021

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

Xue Y et al.

Journal of Dental Research, 2015

Current research on pycnodysostosis.

Turan S

Intractable & Rare Diseases Research, 2014

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

Xue Y et al.

Orphanet Journal of Rare Diseases, 2011

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

Schilling AF et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2007

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

Donnarumma M et al.

Human Mutation, 2007

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.

Fratzl-Zelman N et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."