Results 121 to 130 of about 2,917 (255)

Regulating the levels of key factors in cell cycle and DNA repair: New pathways revealed by lamins [PDF]

open access: yes, 2011
Spatial and temporal organization of the genome represents an additional step in the regulation of nuclear functions. The nuclear lamina, a polymeric meshwork formed by lamins (A/C and B type) and lamin-associated proteins, plays a key role in the ...
Gonzalez-Suarez, Ignacio   +2 more
core   +2 more sources

Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death

open access: yesBMC Cardiovascular Disorders, 2019
Background Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD). Various clinical features
Tetsuro Yokokawa   +12 more
doaj   +1 more source

Inflammatory myopathy in the context of an unusual overlapping laminopathy

open access: yesArchives of Endocrinology and Metabolism, 2018
Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial ...
Cristina Guillín-Amarelle   +8 more
doaj   +1 more source

Investigating pediatric disorders with induced pluripotent stem cells [PDF]

open access: yes, 2018
The study of disease pathophysiology has long relied on model systems, including animal models and cultured cells. In 2006, Shinya Yamanaka achieved a breakthrough by reprogramming somatic cells into induced pluripotent stem cells (iPSCs).
Cadar, Adrian G.   +3 more
core   +1 more source

Linking skeletal muscle aging with osteoporosis by lamin A/C deficiency.

open access: yesPLoS Biology, 2020
The nuclear lamina protein lamin A/C is a key component of the nuclear envelope. Mutations in the lamin A/C gene (LMNA) are identified in patients with various types of laminopathy-containing diseases, which have features of accelerated aging and ...
Lei Xiong   +8 more
doaj   +1 more source

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells. [PDF]

open access: yes, 2017
published_or_final_versio
Cai, Z   +7 more
core   +1 more source

Laminopathies: Involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases [PDF]

open access: bronze, 2004
Nadir M. Maraldi   +6 more
openalex   +1 more source

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