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2014 | 1 |
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Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21.
Mol Genet Genomic Med. 2022.
PMID: 35315254
Free PMC article.
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M.
Donnarumma M, et al.
Hum Mutat. 2007 May;28(5):524. doi: 10.1002/humu.9490.
Hum Mutat. 2007.
PMID: 17397052
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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Arman A, Bereket A, Coker A, Kiper PÖ, Güran T, Ozkan B, Atay Z, Akçay T, Haliloglu B, Boduroglu K, Alanay Y, Turan S.
Arman A, et al.
Orphanet J Rare Dis. 2014 Apr 26;9:60. doi: 10.1186/1750-1172-9-60.
Orphanet J Rare Dis. 2014.
PMID: 24767306
Free PMC article.
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A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
Huang X, Qi X, Li M, Wang O, Jiang Y, Xing X, Hu YY, Xia W.
Huang X, et al.
Calcif Tissue Int. 2015 May;96(5):373-8. doi: 10.1007/s00223-015-9963-y. Epub 2015 Mar 1.
Calcif Tissue Int. 2015.
PMID: 25725806
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From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.
Appelman-Dijkstra NM, Papapoulos SE.
Appelman-Dijkstra NM, et al.
Endocrine. 2016 Jun;52(3):414-26. doi: 10.1007/s12020-016-0888-7. Epub 2016 Feb 18.
Endocrine. 2016.
PMID: 26892377
Free PMC article.
Review.
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Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
Roy S, Das Chakraborty S, Biswas S.
Roy S, et al.
FEBS J. 2018 Nov;285(22):4265-4280. doi: 10.1111/febs.14655. Epub 2018 Sep 26.
FEBS J. 2018.
PMID: 30199612
Free article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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