Results 101 to 110 of about 5,533 (240)
Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2
Cells, 2020 Laminopathies are rare and heterogeneous diseases affecting one to almost all tissues, as in Progeria, and sharing certain features such as metabolic disorders and a predisposition to atherosclerotic cardiovascular diseases.
Alice-Anaïs Varlet +2 more
doaj +1 more source
, 2015 We perform a statistical study of the distances between successive occurrencies of a given dinucleotide in the DNA sequence for a number of organisms of different complexity.
Castellani, Gastone C. +6 more
core +1 more source
Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]
, 2012 Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood.
Ahmad, Ferhaan +4 more
core +5 more sources
The laminopathies: nuclear structure meets disease
Current Opinion in Genetics & Development, 2003 Most inherited diseases are associated with mutations in a specific gene. Sometimes, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases.
Cancer and Developmental Biology Laboratory, National Cancer Institute at Frederick, PO Box B, Frederick, Maryland 21702, USA ( host institution ) +4 more
openaire +3 more sources
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice [PDF]
, 2012 et al.Nuclear lamina alterations occur in physiological aging and in premature aging syndromes. Because aging is also associated with abnormal stem cell homeostasis, we hypothesize that nuclear envelope alterations could have an important impact on stem ...
Espada, Jesús, Pendás, Alberto M.
core +2 more sources
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]
, 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 +3 more sources
Frontiers in Genetics, 2016 Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes, LMNA, LMNB1 and LMNB2.
Jérôme D. Robin, Frederique Magdinier
doaj +1 more source
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling [PDF]
, 2017 Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies.
Dialynas, George +8 more
core
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome [PDF]
, 2016 Transparency document related to this article can be found online at http://dx.doi.org/10.1016/j.bbrc.2015.10.014Induced pluripotent stem cells (iPSCs) represent today an invaluable tool to create disease cell models for modeling and drug screening ...
Ferreira, L. +3 more
core +1 more source
A dual role for A-type lamins in DNA double-strand break repair [PDF]
, 2011 A-type lamins are emerging as regulators of nuclear organization and function. Changes in their expression are associated with cancer and mutations are linked to degenerative diseases—laminopathies.
Biehl, Kenneth J +12 more
core +2 more sources