Results 51 to 60 of about 6,334 (202)

An Intracellular Arrangement of Histoplasma capsulatum Yeast-Aggregates Generates Nuclear Damage to the Cultured Murine Alveolar Macrophages [PDF]

open access: yes, 2016
Histoplasma capsulatum is responsible for a human systemic mycosis that primarily affects lung tissue. Macrophages are the major effector cells in humans that respond to the fungus, and the development of respiratory disease depends on the ability of ...
Aline R. Voltan   +11 more
core   +2 more sources

Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors [PDF]

open access: yesMuscle & Nerve, 2018
ABSTRACTIntroductionEmery-Dreifuss Muscular Dystrophy (EDMD) is a disease characterized by skeletal muscle wasting, major tendon contractures, and cardiac conduction defects. Mutations in the gene encoding emerin cause EDMD1. Our previous studies suggested emerin activation of Histone Deacetylase 3 (HDAC3) to reduce Histone 4-Lysine 5 (H4K5 ...
Bossone, Katherine A.   +2 more
openaire   +3 more sources

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

open access: yesCells, 2023
Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity.
Agathe Marcelot   +11 more
doaj   +1 more source

Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]

open access: yes, 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

Concise Review: Plasma and Nuclear Membranes Convey Mechanical Information to Regulate Mesenchymal Stem Cell Lineage [PDF]

open access: yes, 2016
Numerous factors including chemical, hormonal, spatial, and physical cues determine stem cell fate. While the regulation of stem cell differentiation by soluble factors is well-characterized, the role of mechanical force in the determination of lineage ...
Fuchs, Robyn K.   +3 more
core   +1 more source

Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations [PDF]

open access: yesArchives of Neurology, 2007
Emery-Dreifuss muscular dystrophy, caused by EMD gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms.To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with ...
Shigehisa, Ura   +12 more
openaire   +2 more sources

Cytoskeletal influences on nuclear shape in granulocytic HL-60 cells [PDF]

open access: yes, 2004
Background During granulopoiesis in the bone marrow, the nucleus differentiates from ovoid to lobulated shape. Addition of retinoic acid (RA) to leukemic HL-60 cells induces development of lobulated nuclei, furnishing a convenient model system for ...
Olins Donald E, Olins Ada L
core   +1 more source

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]

open access: yes, 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

Barrier-to-Autointegration Factor Phosphorylation on Ser-4 Regulates Emerin Binding to Lamin A In Vitro and Emerin Localization In Vivo [PDF]

open access: yesMolecular Biology of the Cell, 2006
Barrier-to-autointegration factor (BAF) is a conserved 10-kDa chromatin protein essential in proliferating cells. BAF dimers bind double-stranded DNA, histone H3, histone H1.1, lamin A, and transcription regulators, plus emerin and other LEM-domain nuclear proteins.
Luiza, Bengtsson, Katherine L, Wilson
openaire   +2 more sources

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

open access: yesFrontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj   +5 more
doaj   +1 more source

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