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Keywords: EDMD
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Biochem Soc Trans (2018) 46 (3): 669–681.
Published: 21 May 2018
... that demonstrated both EDMD and DCM-like phenotypes was generated via global targeted deletion of the last exon of the Syne-1 gene leading to removal of the last two exons that included the KASH domain in Prof. McNally's Laboratory; we renamed this mouse model as Nesprin-1 KASH KO ① [ 29 , 38 ]. The KASH1 KO...
Biochem Soc Trans (2018) 46 (2): 311–320.
Published: 27 February 2018
... of Nucleoskeleton and Cytoskeleton (LINC) complex at the nuclear envelope in association with lamin A/C and emerin. Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery–Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM). Several lines of evidence indicate...