The aim of this professional issues paper is to illuminate the clinical and research communities with regards click here to the growing body of knowledge for determining the trajectory of a patient with whiplash. (C) 2013 Elsevier Ltd. All rights reserved.”
“Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients)
whose features were suggestive of Nager syndrome and found nine
mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype-phenotype correlations. Most mutation-negative patients were phenotypically ZD1839 indistinguishable from patients with mutations, suggesting genetic heterogeneity.”
“In this study we describe the de novo assembled head kidney transcriptome of the Antarctic notothenioid fish Trematomus bernacchii, an important model species for biochemical, environmental and immunological studies. RNA-seq data was generated using Illumina paired-end sequencing, obtaining similar to 7 Gbp of sequence data, which were assembled into 96,641 contigs and annotated with the Trinotate pipeline. Since this sequence collection is expected to contain a relevant number of immunity-related transcripts, it will
be used as a reference for future immunological studies in this species. (C) 2015 Elsevier B.V All rights reserved.”
“Background find more aims. For engineering bone tissue to restore, for example, maxillofacial defects, mechanosensitive cells are needed that are able to conduct bone cell-specific functions, such as bone remodelling. Mechanical loading affects local bone mass and architecture in vivo by initiating a cellular response via loading-induced flow of interstitial fluid. After surgical removal of ectopically impacted third molars, human dental pulp tissue is an easily accessible and interesting source of cells for mineralized tissue engineering. The aim of this study was to determine whether human dental pulp-derived cells (DPC) are responsive to mechanical loading by pulsating fluid flow (PFF) upon stimulation of mineralization in vitro. Methods. Human DPC were incubated with or without mineralization medium containing differentiation factors for 3 weeks. Cells were subjected to 1-h PFF (0.7 +/- 0.3 Pa, 5 Hz) and the response was quantified by measuring nitric oxide (NO) and prostaglandin E(2) (PGE(2)) production, and gene expression of cyclooxygenase (COX)-1 and COX-2. Results.