The response to cardiac resynchronization therapy in LMNA cardiomyopathy
European Journal of Heart Failure, 2022 Cardiac implantable electronic device (CIED) therapy is fundamental to the management of LMNA cardiomyopathy due to the high frequency of atrioventricular block and ventricular tachyarrhythmias.
K. Sidhu +24 more
semanticscholar +5 more sources
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]
Case Reports in Genetics, 2014 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun +5 more
core +9 more sources
Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy [PDF]
Clinical Epigenetics, 2021 Background Dilated cardiomyopathy (DCM) is a serious cardiac heterogeneous pathological disease, which may be caused by mutations in the LMNA gene. Lamins interact with not only lamina-associated domains (LADs) but also euchromatin by alone or associates
Xiaolin Zhang +4 more
semanticscholar +5 more sources
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype‐Positive
Journal of the American Heart Association, 2022 Background We aimed to assess the association between number of pregnancies and long‐term progression of cardiac dysfunction, arrhythmias, and event‐free survival in women with pathogenic or likely pathogenic variants of gene encoding for Lamin A/C ...
A. I. Castrini +10 more
semanticscholar +4 more sources
Cell-extrinsic defective lymphocyte development in Lmna(-/-) mice. [PDF]
PLoS ONE, 2010 Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/-) mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic ...
J Scott Hale +4 more
doaj +5 more sources
Timing of pacemaker and ICD implantation in LMNA mutation carriers [PDF]
Open Heart, 2021 Aims LMNA-cardiomyopathy is often associated with pathology in the cardiac conduction system necessitating device implantations. The aim was to study the timing and types of device implantations and need for re-implantations in LMNA mutation carriers ...
L. Ollila +4 more
semanticscholar +8 more sources
Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017 BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee +7 more
doaj +3 more sources
LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Архивъ внутренней медициныEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik +5 more
doaj +2 more sources
Consequences of Lmna Exon 4 Mutations in Myoblast Function [PDF]
Cells, 2020 Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients.
Déborah Gómez-Domínguez +11 more
doaj +7 more sources
Myonuclear Degeneration in LMNA Null Mice
The FASEB Journal, 2008 Lamins A/C, the major constituent of the nuclear lamina, confer mechanical stability to nuclei. We examined the myonuclei of LMNA null mice at the myotendinous junctions (MTJ), the site of longitudinal force transmission from contractile proteins to extracellular proteins. The right soleus and rectus femoris muscles of 5 null mutants aged 5–7 weeks and
Michel Mittelbronn +3 more
openalex +6 more sources