Results 151 to 160 of about 1,703 (200)

Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series. [PDF]

open access: yesIntern Med
Ogawa N   +9 more
europepmc   +1 more source

[Laminopathies--interdisciplinary problem].

open access: yesKardiologia polska, 2008
Zofia T, Bilińska, Anna, Fidziańska
openaire   +1 more source

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy [PDF]

open access: yesGenetics in Medicine, 2021
Purpose: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies.
Mohnish Suri   +2 more
exaly   +3 more sources
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Laminopathies

The Journal of Pathology, 2004
AbstractNuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this flattened lamin lattice the nuclear pore complexes are embedded. Next to this peripheral network,
Jos L V, Broers   +2 more
openaire   +3 more sources

Molecular Pathology of Laminopathies

Annual Review of Pathology: Mechanisms of Disease, 2022
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. Laminopathies are diseases caused by mutations in genes encoding protein components of the lamina and these other nuclear envelope substructures. Mutations in the single gene encoding lamin A and C, which are expressed in most differentiated somatic ...
Ji-Yeon, Shin, Howard J, Worman
openaire   +2 more sources

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