Results 101 to 110 of about 11,754 (266)

Profound Re-Organization of Cell Surface Proteome in Equine Retinal Pigment Epithelial Cells in Response to In Vitro Culturing [PDF]

open access: yes, 2012
The purpose of this study was to characterize the cell surface proteome of native compared to cultured equine retinal pigment epithelium (RPE) cells. The RPE plays an essential role in visual function and represents the outer blood-retinal barrier.
Aisenbrey   +54 more
core   +3 more sources

Prediction and prognostic role of left ventricular systolic dysfunction in family screening for dilated cardiomyopathy and non‐dilated left ventricular cardiomyopathy

open access: yesEuropean Journal of Heart Failure, EarlyView.
Aims The prognostic significance of detecting left ventricular (LV) systolic dysfunction during family screening programmes (FSPs) in relatives of probands affected by dilated (DCM) and non‐dilated left ventricular (NDLVC) cardiomyopathies remain unclear.
Eva Del Mestre   +17 more
wiley   +1 more source

Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis [PDF]

open access: yesAmerican Journal of Respiratory and Critical Care Medicine, 2016
Sequence variation, methylation differences, and transcriptional changes in desmoplakin (DSP) have been observed in patients with idiopathic pulmonary fibrosis (IPF).To identify novel variants in DSP associated with IPF and to characterize the relationship of these IPF sequence variants with DSP gene expression in human lung.A chromosome 6 locus (7,370,
James D. Crapo   +13 more
openaire   +3 more sources

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. [PDF]

open access: yes, 2016
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the ...
Chen, J.   +12 more
core   +8 more sources

The 'Spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families [PDF]

open access: yes, 2002
Recent studies have characterised a family of giant cytoskeletal crosslinkers encoded by the short stop gene in Drosophila and the dystonin/BPAG1 and MACF1 genes in mammals.
Brown, N., Gregory, S., Roeper, K.
core   +2 more sources

Integrated role of cardiac magnetic resonance and genetics in predicting left ventricular reverse remodelling in dilated and non‐dilated cardiomyopathy

open access: yesEuropean Journal of Heart Failure, EarlyView.
An integrated approach including late gadolinium enhancement data and genetics to predict left ventricular reverse remodelling in patients with dilated and non‐dilated left ventricular cardiomyopathy. DSP, desmoplakin; FLNC, filamin C; LMNA, lamin A/C; LVRR, left ventricular reverse remodelling; LGE, late gadolinium enhancement; MVA, major ventricular ...
Martina Setti   +21 more
wiley   +1 more source

Making Connections: Desmoplakin as an Intermediate Filament-Binding Protein [PDF]

open access: yesJournal of Investigative Dermatology, 2007
Early work on desmosome morphology and biochemical composition laid the groundwork for the utilization of molecular biological approaches in the 1990s. Important breakthroughs included the cloning and sequencing of the desmoplakin gene, the identification of desmoplakin as an intermediate filament-binding protein and the realization that desmoplakin ...
Margaret D. Kottke, Andrew P. Kowalczyk
openaire   +4 more sources

FRAP analysis reveals stabilization of adhesion structures in the epidermis compared to cultured keratinocytes. [PDF]

open access: yesPLoS ONE, 2013
Proper development and tissue maintenance requires cell-cell adhesion structures, which serve diverse and crucial roles in tissue morphogenesis. Epithelial tissues have three main types of cell-cell junctions: tight junctions, which play a major role in ...
Henry P Foote   +2 more
doaj   +1 more source

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy. [PDF]

open access: yes, 2019
Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular, right ventricular, or both.
Asimaki, A   +10 more
core   +3 more sources

PLK4 is a potential therapeutic target in nonmelanoma skin cancers: Evidence from molecular and in vivo studies

open access: yesPhotochemistry and Photobiology, EarlyView.
Exposure to solar ultraviolet radiation is the main etiologic driver of nonmelanoma skin cancers (NMSCs), including basal cell (BCC) and cutaneous squamous cell carcinomas (cSCC), which are the most prevalent types of cancers in the US. In this study, we demonstrate that the serine/threonine kinase Polo‐like kinase 4 (PLK4) is overexpressed in NMSCs ...
Mary A. Ndiaye   +5 more
wiley   +1 more source

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