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
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Sayed Amr K et al.
Genes, 2021
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
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.
Otaify GA 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, 2018
Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.
Shi X et al.
Medicine, 2017
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
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
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Arman A et al.
Orphanet Journal of Rare Diseases, 2014
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
Matsushita M et al.
Molecular Syndromology, 2012
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
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.
Naeem M et al.
Bmc Medical Genetics, 2009
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
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.
Fujita Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.
Nishi Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
Hou WS et al.
The Journal of Clinical Investigation, 1999
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
Gelb BD et al.
American Journal of Human Genetics, 1998
[Treatment of tibia fracture with LCP plate in picnodisostosis].
Mercado-Colín JM et al.
Acta Ortopedica Mexicana, 0