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DNA sequencing Research

19:11 EDT 19th August 2018 | BioPortfolio

Tissue-specific effects of targeted mutation of Mir29b1 in rats.

miR-29 is a master regulator of extracellular matrix genes, but conflicting data on its anti-fibrotic effect have been reported. miR-29 improves nitric oxide (NO) production in arterioles by targeting Lypla1. Mir29b1 targeted mutation exacerbates hypertension in a model derived from the Dahl salt-sensitive rat. We examined the effect of Mir29b1 mutation on tissue fibrosis and NO levels with a focu...

Distinct Splicing Factor Mutations Converge on NF-κB Signaling.

Mutations in and common in myelodysplastic syndrome (MDS) are synthetic lethal.

Single-Cell RNA Sequencing Uncovers Kidney Tumor Cells of Origin.

Wilms tumors arise from fetal cells whereas adult tumors arise from proximal convoluted tubular cells.

Homozygous variants in , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

Retinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%-80% of RP cases, the genetic diagnosis can be found using whole exome sequencing (WES). In this study, the purpose was to identify causative variants in individuals with genetically unexplained retinal disease, which included one consanguineous family with two affected siblings and on...

Complete chloroplast genome sequence of Fagopyrum dibotrys: genome features, comparative analysis and phylogenetic relationships.

Fagopyrum dibotrys, belongs to Polygonaceae family, is one of national key conserved wild plants of China with important medicinal and economic values. Here, the complete chloroplast (cp) genome sequence of F. dibotrys is reported. The cp genome size is 159,919 bp with a typical quadripartite structure and consisting of a pair of inverted repeat regions (30,738 bp) separated by large single co...

Complementary iTRAQ-based proteomic and RNA sequencing-based transcriptomic analyses reveal a complex network regulating pomegranate (Punica granatum L.) fruit peel colour.

Peel colour is an important factor affecting the marketability of pomegranate fruits. Therefore, elucidating the genetic mechanism of fruit peel colour development may be useful for breeding pomegranate cultivars with enhanced fruit peel colours. In this study, we combined an iTRAQ-based proteome-level analysis with an RNA sequencing-based transcriptome-level analysis to detect the proteins and ge...

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.

Heterotaxy syndrome (HTX) is characterized by left-right (LR) asymmetry disturbances associated with severe heart malformations. However, the exact genetic cause of HTX pathogenesis remains unclear. The aim of this study was to investigate the pathogenic mechanism underlying heterotaxy syndrome. Targeted next-generation sequencing (NGS) was performed for twenty-two candidate genes correlated with ...

Characterization of induced tissue-specific stem cells from pancreas by a synthetic self-replicative RNA.

Induced pluripotent stem (iPS) cells have significant implications for overcoming most of the ethical issues associated with embryonic stem (ES) cells. Furthermore, our recent study demonstrated the generation of induced tissue-specific stem (iTS) cells by transient overexpression of the reprogramming factors using a plasmid combined with tissue-specific selection. In this study, we were able to g...

Hsa-miR-10a-5p downregulation in mutant UQCRB-expressing cells promotes the cholesterol biosynthesis pathway.

Ubiquinol cytochrome c reductase binding protein (UQCRB) is known to play crucial roles in the development of various types of diseases. However, the link between UQCRB and microRNAs remains unknown. In the present study, we performed microRNA sequencing of mutant UQCRB-expressing stable cell lines that exhibited pro-oncogenic activities caused by expression of the mutant UQCRB gene. Results showe...

Genomic Analysis of the Insect-Killing Fungus Beauveria bassiana JEF-007 as a Biopesticide.

Insect-killing fungi have high potential in pest management. A deeper insight into the fungal genes at the whole genome level is necessary to understand the inter-species or intra-species genetic diversity of fungal genes, and to select excellent isolates. In this work, we conducted a whole genome sequencing of Beauveria bassiana (Bb) JEF-007 and characterized pathogenesis-related features and com...

Correction to: Effectiveness of Rotigotine plus intensive and goal‑based rehabilitation versus Rotigotine alone in "de‑novo" Parkinsonian subjects: a randomized controlled trial with 18‑month follow‑up.

The original version of this article unfortunately contained a mistake. The funding information was incorrect. The corrected funding information is given below.

Histopathological, morphological, and molecular characterization of Sarcocystis species in elk (Cervus elaphus) from Pennsylvania, USA.

Sarcocystis sarcocysts are common in many species of domestic and wild animals. Here, we report sarcocystosis in muscles from 91 free range elk (Cervus elaphus) from Pennsylvania, USA, tested by histopathology, transmission electron microscopy (TEM), and DNA sequencing. Sarcocysts were detected in hematoxylin and eosin (HE)-stained sections from 83 of 91 (91.2%) elk, including 83/91 (91.2%) tongue...

Characterization of protistan plankton diversity in ancient salt evaporation ponds located in a volcanic crater on the island Sal, Cape Verde.

Salinity is an important factor when exploring the limits known for life. Therefore, hypersaline systems have attracted much attention in recent years. In this study, we investigated the protistan diversity and community composition in two natural salt evaporation ponds (27-30% salinity) located in an ancient volcanic crater on the Cape Verde island Sal using high-throughput DNA sequencing. Our st...

Bacterial and archaeal profiling of hypersaline microbial mats and endoevaporites, under natural conditions and methanogenic microcosm experiments.

Bacterial and archaeal community structure of five microbial communities, developing at different salinities in Baja California Sur, Mexico, were characterized by 16S rRNA sequencing. The response of the microbial community to artificial changes in salinity-sulfate concentrations and to addition of trimethylamine was also evaluated in microcosm experiments. Ordination analyses of the microbial com...

Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a rare hereditary disorder affecting the quality and quantity of the tooth enamel. The purpose of this study was to identify the genetic etiology of hypoplastic AI families based on the candidate gene approach.

Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing.

Genetic and epigenetic alterations are associated with the progression and prognosis of medullary thyroid carcinoma (MTC). We performed whole-exome sequencing of tumor tissue from seven patients with sporadic MTC using an Illumina HiSeq 2000 sequencing system. We conducted Sanger sequencing to confirm the somatic mutations in both tumor and matched normal tissues. We applied Kyoto Encyclopedia of ...

Hepatic zonation now on hormones!

The liver plays important roles in maintaining systemic metabolic homeostasis, but our understanding of how the liver coordinates such a wide range of functions is still evolving. A recent study led by Dr. Gromada advanced the knowledge of the regulators for liver zonation with the discovery of a novel role for glucagon as a liver metabolic zonation regulator utilizing Glucagon (gcg) KO mice combi...

Targeted Sequencing and Intracranial Outcomes of Patients With Lung Adenocarcinoma Brain Metastases Treated With Radiotherapy.

Treatment for advanced lung adenocarcinoma (AC) has become increasingly personalized based on molecular results. However, for patients with AC brain metastases (BMs), intracranial outcomes based on molecular subtype and the frequency of molecular aberrations are less well defined. This study sought to report targeted next-generation sequencing results and investigate molecularly based outcomes for...

Targeted Temperature Management with Total Liquid Ventilation after Ischemic Spinal Cord Injury.

Ischemic spinal cord injury is a devastating condition after aortic surgery. We determined whether ultrafast and short whole-body hypothermia provided by total liquid ventilation (TLV) attenuated lower limb paralysis after aortic cross-clamping with a targeted temperature management at 33°C vs 36°C.

Concordance of somatic mutation profiles BRAF, NRAS and TERT and tumoral PD-L1 in matched primary cutaneous and metastatic melanoma samples.

Despite the efficacy of BRAF-targeted and PD-L1-related immune therapies in tackling metastatic melanoma, a significant number of patients exhibit resistance. Given this, the objective of the current study was to ascertain concordance of somatic mutations in BRAF/ NRAS/TERT and, immunohistochemical PD-L1 and CD8 in matched primary cutaneous and metastatic melanoma. A total of 43 archival paired sa...

A Role for De Novo Purine Metabolic Enzyme PAICS in Bladder Cancer Progression.

Genomic and transcriptome sequencing of bladder cancer (BLCA) has identified multiple molecular alterations during cancer progression. Many of these identified genetic and epigenetic changes play a role in the progression of this disease. Studies have identified molecular subtypes in muscle-invasive bladder cancer (MIBC) with different sensitivities to frontline therapy suggesting the heterogeneit...

Achieving efficient nitrogen removal and nutrient recovery from wastewater in a combining simultaneous partial nitrification, anammox and denitrification (SNAD) process with a photobioreactor (PBR) for biomass production and generated dissolved oxygen (DO) recycling.

This study presents a new way to achieve energy neutral wastewater treatment based on a combined nitrification, anammox, and denitrification (SNAD) process and photobioreactor (PBR) configuration with external recycling instead of aeration, and without an additional carbon source, using fixed-film-activated sludge technology (IFAS). The SNAD-PBR process achieved total nitrogen (TN) and phosphorus ...

Characteristics of microbial community indicate anthropogenic impact on the sediments along the Yangtze Estuary and its coastal area, China.

In the contaminated coastal sediments, variations of microbial community can reflect the impact of anthropogenic activities. The identification, evaluation and monitoring of the potential bio-indicator species and biomarker communities are vital for the ecological studies in sedimentary environments. Based on the high-throughput sequencing, the microbial communities were characterized in the sedim...

Ballast water treatment and bacteria: Analysis of bacterial activity and diversity after treatment of simulated ballast water by electrochlorination and UV exposure.

Effects of ballast water (BW) treatment by ultra-violet (UV) light and electrochlorination (EC) on survival, activity and diversity of marine bacterioplankton and release of organic matter from cell damage were examined at discharge in a large-scale BW test facility (250 m tanks) at Hundested harbour, Denmark. The tests were performed in accordance with the requirements for type approval testing...

Lysosome-Targeted Chemotherapeutics: Half-Sandwich Ruthenium(II) Complexes That Are Selectively Toxic to Cancer Cells.

Poor selectivity between cancer cells and normal cells is one of the major limitations of cancer chemotherapy. Lysosome-targeted ruthenium-based complexes target tumor cells selectively, only displaying rather weak cytotoxicity or inactivity toward normal cells. Confocal microscopy was employed for the first time to determine the cellular localization of the half-sandwich Ru complex.

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