Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health. [PDF]
Curr Heart Fail RepTorfs T +5 more
europepmc +1 more source
Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later-Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia. [PDF]
Case Rep GenetArany ES, Zocche D, Cobben J.
europepmc +1 more source
Lamin-ating the genome: quantitative gatekeeping of replication initiation. [PDF]
Trends Cell BiolParasar B, Moghadami S, Tan L.
europepmc +1 more source
Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics. [PDF]
Hum MutatAktaş E, Nizamoğlu C, Ventura S.
europepmc +1 more source
The dual face of lamin A/C cardiomyopathy: risk prediction of heart failure and arrhythmias. [PDF]
Eur Heart JHeymans S.
europepmc +1 more source
Nuclear envelope rupture and resealing: mechanisms, consequences, and disease implications. [PDF]
Biochem Soc TransEn A, Ikegami K.
europepmc +1 more source
Seeing Beyond the Surface: ECG Clues of Multilayer Arrhythmogenic Substrate. [PDF]
JACC Case RepEndo B, Konstantinidis K.
europepmc +1 more source
Using human induced pluripotent stem cells to elucidate lineage-specific phenotypes of laminopathies
Laminopathies are a group of heterogeneous disorders caused by mutations in the LMNA gene. LMNA encodes type V intermediate filament proteins Lamin A and C, which form the nuclear lamina along with Lamin B1 and B2.
Khokhar, Noreen
core +1 more source
Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]
JACC Case RepSterner RM +5 more
europepmc +1 more source
Generation of two homozygous iPSC lines carrying variants of uncertain significance in LMNA associated with cardiomyopathy. [PDF]
Stem Cell ResLiu L +9 more
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