Viscoelastic behavior of cardiomyocytes carrying LMNA mutations
نویسندگان
چکیده
منابع مشابه
LMNA mutations in atypical Werner's syndrome.
BACKGROUND Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN). METHODS Of 129 index patients referred to our international registry f...
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Measure ments made on dent a l a malgam in tens ion indica te th at a malga m exhib its three types of vi scoelasti c phe nome na: (1) inst antaneous e las ti c s tra in , (2) re ta rded e las ti c st ra in (transie nt c reep), and (3) viscous s train (s teady state c reep). T he co mbina tion of e lasti c plus re ta rded strain can be repre· sent ed by a n eq uation of the form f = A(T + 8 '(J...
متن کاملNovel mutations in LMNA A/C gene and associated phenotypes.
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. More recently they have been associated with dilated cardiomyopathy (DCM) and severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). We report four novel mutations - 3 missense and 1 deletion - in 4 unrelated patients showing ...
متن کاملDilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.
BACKGROUND Dilated cardiomyopathy (DCM) is familial in about 20-35% of patients. The most frequently encountered mutations associated with DCM are found in LMNA. AIM To define the frequency of LMNA mutations in a series of consecutive DCM patients and to evaluate the phenotype of mutation carriers. METHODS We screened the 12 exons of LMNA in a series of 61 Polish patients with DCM diagnosed...
متن کاملExpanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
AIMS Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy. The aim of this study was to perform a mutational analysis of LMNA in a large white population of patients affected by dilated cardiomyopathy with or without associated symptoms. METHODS We performed screening of the ...
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ژورنال
عنوان ژورنال: Biorheology
سال: 2020
ISSN: 0006-355X,1878-5034
DOI: 10.3233/bir-190229