The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. [PDF]
, 2006 Hutchinson-Gilford progeria syndrome (HGPS) is a dominant autosomal premature aging syndrome caused by the expression of a truncated prelamin A designated progerin.
Buendia, Brigitte +5 more
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Changes at the nuclear lamina alter binding of pioneer factor Foxa2 in aged liver [PDF]
, 2018 Bochkis, I. M. +6 more
core +1 more source
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish [PDF]
, 2017 Biswas, Lincoln +17 more
core +1 more source
Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering [PDF]
, 2018 Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced ...
Cappellari, O +21 more
core
Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report. [PDF]
Eur Heart J Case Rep, 2023 Iavarone M +3 more
europepmc +1 more source
A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile). [PDF]
Cureus, 2023 Tokuda N +4 more
europepmc +1 more source
Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]
JACC Case RepSterner RM +5 more
europepmc +1 more source
A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation. [PDF]
J Diabetes Investig, 2023 Huang S, Zhang Y, Zhan Z, Gong S.
europepmc +1 more source