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