Abstract Background The skin is the largest organ of body and has multiple functions. Wounds remain a significant healthcare problem due to large number traumatic pathophysiological conditions patients suffer. Methods Gene expression profiles 37 biopsies collected from undergoing split-thickness grafts at five different time points were downloaded two datasets (GSE28914 GSE50425) in Expression ...

Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel (version 1, March 9, 2016) consists of sequence analysis of genes associated with distal myopathy and muscular dystrophy: ACTA1, ANO5, CAPN3, CAV3, CFL2, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1, DES, DMD, DNAJB6, DYSF, EMD, FHL1*, FKRP, FKTN, GMPPB, ISPD, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, LIMS2, LMNA, LMOD3, MTM1,...

INTRODUCTION Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxi...

Collagen VI, one of the extracellular matrix proteins, has been implicated in regulating cell proliferation and reducing apoptosis in several different systems. However, the role of collagen VI in the central nervous system remains unclear. In this manuscript, we demonstrated that upon ultraviolet (UV) irradiation, mouse primary hippocampal neurons specifically up-regulate the expression of Col...

Detecting prostate cancer (PCa) using non-invasive diagnostic markers still remains a challenge. The aim of this study was the identification of urine proteins that are sufficiently sensitive and specific to detect PCa in the early stages. Comparative proteomics profiling of urine from patients with PCa, benign prostate hyperplasia, bladder cancer, and renal cancer, coupled with bioinformatics ...

Collagen VI myopathies (Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), and myosclerosis myopathy) share a common pathogenesis, that is, mitochondrial dysfunction due to deregulation of the permeability transition pore (PTP). This effect was first identified in the Col6a1(-/-) mouse model and then in muscle cell cultures from UCMD and BM patients; the normalizing effect of ...

Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1-3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in...

Hirschsprung's disease (HSCR) is a severe congenital anomaly of the enteric nervous system (ENS) characterized by functional intestinal obstruction due to a lack of intrinsic innervation in the distal bowel. Distal innervation deficiency results from incomplete colonization of the bowel by enteric neural crest cells (eNCCs), the ENS precursors. Here, we report the generation of a mouse model fo...