Associated Papers
From genotype to phenotype: the impact of early management in pycnodysostosis.
Von Zuben PRGDS et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
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
Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.
Ünsal Y et al.
Cureus, 2023
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M et al.
Journal of Pediatric Genetics, 2022
Genomic basis of syndromic short stature in an Algerian patient cohort.
Moosa S et al.
American Journal of Medical Genetics. Part A, 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
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M et al.
International Journal of Molecular Sciences, 2020
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
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.
Rovira Martí P et al.
International Orthopaedics, 2016
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
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
Berenguer A et al.
Bmj Case Reports, 2012
Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features.
Caracas HP et al.
Clinical Dysmorphology, 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
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.
Bertola D et al.
American Journal of Medical Genetics. Part A, 2010
Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis.
Chavassieux P et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008
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
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
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
Ho N 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
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
Gelb BD et al.
Science (new York, N.y.), 1996
Craniosynostosis: A rare complication of pycnodysostosis.
Osimani S et al.
European Journal of Medical Genetics, 0
CTSK variant implicated in suspected pyknodysostosis in a domestic cat.
Lyraki M et al.
Jfms Open Reports, 0