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
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M et al.
Journal of Pediatric Genetics, 2022
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
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.
Kaur P et al.
Case Reports in Genetics, 2021
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report.
Kochar IPS et al.
Clinical Medicine Insights. Case Reports, 2019
Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
Roy S et al.
The Febs Journal, 2018
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF et al.
European Journal of Medical Research, 2016
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
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Pangrazio A et al.
Bone, 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