|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption.
|
31489468 |
2019 |
|
Pycnodysostosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mutation in CTSK gene is associated with loss of collagenolytic activity of CTSK leading to an autosomal recessive bone disorder called pycnodysostosis.
|
30199612 |
2018 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the mutational spectrum of CTSK gene and emphasize the importance of full clinical examination of all body systems including thorough orodental evaluation in patients with pycnodysostosis.
|
29796728 |
2018 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cathepsin K (CatK), encoded by the Ctsk gene, has been implicated in the pathogenesis of pycnodysostosis and osteoporosis.
|
29781506 |
2018 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present study is the first to report a rare case of the coexistence of pycnodysostosis with a compound CTSK gene mutation and sporadic MTC.
|
29390266 |
2017 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our resultsshed lights on revealing new functions of CTSK and pathogenesis of pycnodysostosis in oral tissues.
|
28095448 |
2017 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sanger sequencing of CTSK confirmed the 2 heterozygous variants and thus the patient was diagnosed with pycnodysostosis.
|
28328823 |
2017 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing of CTSK confirmed the 2 heterozygous variants and thus the patient was diagnosed with pycnodysostosis.
|
28328823 |
2017 |
|
Pycnodysostosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The absence of cathepsin K activity in humans results in pycnodysostosis, characterized by increased bone mineral density and fractures.
|
28651365 |
2017 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pycnodysostosis: mutation spectrum in five unrelated Indian children.
|
27092432 |
2016 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
|
27558267 |
2016 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this review, we highlight the relationship between CTSK and oral and maxillofacial disorders on the following three aspects: oral and maxillofacial abnormities in patients with pycnodysostosis caused by CTSK mutations, oral and maxillofacial abnormities in Ctsk(-/-) mice, and the role of CTSK in oral and maxillofacial diseases, including periodontitis, peri-implantitis, tooth movement, oral and maxillofacial tumor, root resorption, and periapical disease.
|
26458004 |
2016 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21.
|
25304337 |
2015 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
|
25725806 |
2015 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Patients with pycnodysostosis have been reported to present specific dental abnormalities; however, whether these dental abnormalities are related to dysfunctional CTSK has never been reported.
|
25731711 |
2015 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Here we investigated the histologic changes of cementum and alveolar bone in a pycnodysostosis patient, caused by novel compound heterozygous mutations in the CTSK gene (c.87 G>A p.W29X and c.848 A>G p.Y283C).
|
25731711 |
2015 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Challenges in the orthodontic treatment of a patient with pycnodysostosis.
|
23786531 |
2014 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
|
24767306 |
2014 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
|
24767306 |
2014 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
|
24269275 |
2014 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Up to date, 34 different CTSK mutations have been identified in patients with Pyknodysostosis; however, only one mutation was previously identified in a Chinese patient.
|
23506830 |
2013 |
|
Pycnodysostosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
|
23175007 |
2012 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
|
22822386 |
2012 |
|
Pycnodysostosis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
|
22822386 |
2012 |