Pulmonary Adenoleiomyomatous Hamartoma: Case Report of a Rare Entity With Comprehensive Literature Review. [PDF]
Case Rep PatholElsafy H, Nagji AS, Hamza A.
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Myocardial involvement in desmin myopathy due to a DES c.1360C > T (p.Arg454Trp) variant. [PDF]
Eur Heart J Case RepWang Y, Yang K, Lu M.
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The myofibrillar myopathy-linked variant DES-p.T341P impairs desmin filament assembly. [PDF]
Mol Biol RepLütkemeyer A +10 more
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Desmin myopathy: Distinct filamentopathy caused by mutations in the desmin gene
, 2016 Intermediate filaments are 10 nm structures that interact with actin and microtubules to form the cytoskeletal scaffolding of the cells. They share a common structure of a dimer with 2 alpha helical chains intertwined in a coiled-coil highly conserved rod structure.
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The nucleus as a mechanobiological hub in muscle aging. [PDF]
NucleusEsen O, Battey E, Stroud MJ, Kirby TJ.
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Chaperone proteins protect against desmin fragment amyloid aggregation. [PDF]
Biophys JMulhearn EM, Alperstein AM.
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Palatal malignant peripheral nerve sheath tumor: A case report and review of literature. [PDF]
Rare TumorsKarimi A +3 more
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Viscoelasticity of the Heart: An Overview of Viscoelastic Measurements at Different Scales. [PDF]
Annu Rev Biomed EngGionet-Gonzales M +3 more
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SOX10 lights the path: recognizing rare vulvar schwannoma and review of the literature. [PDF]
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Biallelic KLHL24 Loss-of-Function Variants: Emerging Evidence for Early-Onset Arrhythmias and Hypertrophic Cardiomyopathy. [PDF]
JACC Case RepAdak N, Vermeer MCSC.
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