Associated Papers
Exome-Based Identification of Candidate Genes in Sporadic Adenomyosis Cases.
Tuncer FN et al.
Diagnostics (basel, Switzerland), 2025
From genotype to phenotype: the impact of early management in pycnodysostosis.
Von Zuben PRGDS et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters.
Sousa M et al.
Joint Bone Spine, 2023
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Markova TV et al.
Molecular Genetics & Genomic Medicine, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos 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
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.
Wu RC et al.
Cold Spring Harbor Molecular Case Studies, 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
Challenges in the orthodontic treatment of a patient with pycnodysostosis.
Ortegosa MV et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2014
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
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
Berenguer A et al.
Bmj Case Reports, 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
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis.
Rothenbühler A et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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
Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts.
Everts V et al.
Calcified Tissue International, 2003
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
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.
Johnson MR et al.
Genome Research, 1996
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
Gelb BD et al.
Science (new York, N.y.), 1996
CTSK variant implicated in suspected pyknodysostosis in a domestic cat.
Lyraki M et al.
Jfms Open Reports, 0