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https://www.readbyqxmd.com/read/29906453/immunization-with-tumor-neoantigens-displayed-on-t7-phage-nanoparticles-elicits-plasma-antibody-and-vaccine-draining-lymph-node-b-cell-responses
#1
Girja S Shukla, Yu-Jing Sun, Stephanie C Pero, Giselle S Sholler, David N Krag
The aim of this preclinical study was to evaluate T7 bacteriophage as a nanoparticle platform for expression of neoantigens that could allow rapid generation of vaccines for potential studies in human cancer patients. We have generated recombinant T7 phage vaccines carrying neoepitopes derived from mutated proteins of B16-F10 melanoma tumor cells. With the single mutated amino acid (AA) centered, peptides were expressed on the outer coat of T7 phage. All peptides with 11 and 34 AAs were successfully expressed...
June 12, 2018: Journal of Immunological Methods
https://www.readbyqxmd.com/read/29906029/gene%C3%A2-s-expression-profile-for-breast-cancer-clinical-and-therapeutic-approach
#2
Víctor Manuel Vargas-Aguilar, Karina Arroyo-Alvarez
The genes assay provides a clearer picture of individual tumor biology, hormonal- receptor and proliferation. Triple negative breast cancer have high proliferation index and no prognostic with this test. The first generation of gene assay (OncotypeDX, MammaPrint) predice recurrence at 5 years. The next generation (Prosigna, Endopredict) have better prognosis value for recurrence and predictive of early relapse. There are no useful genetic tests for tumors hormonal- negative with pronostic and predictive value...
March 2018: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29905797/crucial-role-for-nox2-and-sleep-deprivation-in-aircraft-noise-induced-vascular-and-cerebral-oxidative-stress-inflammation-and-gene-regulation
#3
Swenja Kröller-Schön, Andreas Daiber, Sebastian Steven, Matthias Oelze, Katie Frenis, Sanela Kalinovic, Axel Heimann, Frank P Schmidt, Antonio Pinto, Miroslava Kvandova, Ksenija Vujacic-Mirski, Konstantina Filippou, Markus Dudek, Markus Bosmann, Matthias Klein, Tobias Bopp, Omar Hahad, Philipp S Wild, Katrin Frauenknecht, Axel Methner, Erwin R Schmidt, Steffen Rapp, Hanke Mollnau, Thomas Münzel
Aims: Aircraft noise causes endothelial dysfunction, oxidative stress, and inflammation. Transportation noise increases the incidence of coronary artery disease, hypertension, and stroke. The underlying mechanisms are not well understood. Herein, we investigated effects of phagocyte-type NADPH oxidase (Nox2) knockout and different noise protocols (around-the-clock, sleep/awake phase noise) on vascular and cerebral complications in mice. Methods and results: C57BL/6j and Nox2-/- (gp91phox-/-) mice were exposed to aircraft noise (maximum sound level of 85 dB(A), average sound pressure level of 72 dB(A)) around-the-clock or during sleep/awake phases for 1, 2, and 4 days...
June 14, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29904728/transcriptomic-profiling-of-human-skin-biopsies-in-the-clinical-trial-setting-a-protocol-for-high-quality-rna-extraction-from-skin-tumours
#4
Marina Danilenko, Robert Stones, Neil Rajan
Transcriptomic profiling of skin disease using next generation sequencing allows for detailed information on aspects of RNA biology including gene expression, non-coding regulatory elements and gene splicing. The application of RNA sequencing to human skin disease and cancer is often hampered by degraded RNA. Here we describe a protocol that allows for consistently intact RNA to be extracted from snap frozen skin biopsy samples, which has been validated in a clinical trial setting. Human skin tumour punch biopsies (n=28) ranging from 4-6mm in diameter were obtained from 14 patients with an inherited skin tumour syndrome (CYLD cutaneous syndrome) and frozen in liquid nitrogen prior to being stored at -80°C...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29904702/detailed-overview-on-the-mutations-detected-by-and-the-sensitivity-of-the-genereader-ngs-sequencing-platform
#5
Jessica Lüsebrink, Monika Pieper, Ramona-Liza Tillmann, Michael Brockmann, Oliver Schildgen, Verena Schildgen
This article presents additional next generation data from our pre-clinical validation study. In total 121 samples (clinical specimen and interlaboratory test samples) were tested successfully with next generation sequencing. 38 different mutations in six different genes were detected. Next to the detection of different mutations, the reproducibility of the NGS test was analyzed. Three samples were analyzed five times and the results were compared. Several mutations classified as non-pathogenic so far, have been detected repeatedly...
June 2018: Data in Brief
https://www.readbyqxmd.com/read/29904155/moringin-induces-neural-differentiation-in-the-stem-cell-of-the-human-periodontal-ligament
#6
Letizia Romeo, Francesca Diomede, Agnese Gugliandolo, Domenico Scionti, Fabrizio Lo Giudice, Veronica Lanza Cariccio, Renato Iori, Placido Bramanti, Oriana Trubiani, Emanuela Mazzon
The therapeutic strategies for neurodegenerative diseases still represent a vast research field because of the lack of targeted, effective and resolutive treatment for neurodegenerative diseases. The use of stem cell-based therapy is an alternative approach that could lead to the replacement of damaged neuronal tissue. For this purpose, adult mesenchymal stem cells (MSC), including periodontal ligament stem cells (PDLSCs), could be very useful for their differentiation capacity, easy isolation and the ability to perform an autologous implant...
June 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29904017/a-parallel-software-pipeline-for-dmet-microarray-genotyping-data-analysis
#7
Giuseppe Agapito, Pietro Hiram Guzzi, Mario Cannataro
Personalized medicine is an aspect of the P4 medicine (predictive, preventive, personalized and participatory) based precisely on the customization of all medical characters of each subject. In personalized medicine, the development of medical treatments and drugs is tailored to the individual characteristics and needs of each subject, according to the study of diseases at different scales from genotype to phenotype scale. To make concrete the goal of personalized medicine, it is necessary to employ high-throughput methodologies such as Next Generation Sequencing (NGS), Genome-Wide Association Studies (GWAS), Mass Spectrometry or Microarrays, that are able to investigate a single disease from a broader perspective...
June 14, 2018: High-throughput
https://www.readbyqxmd.com/read/29903444/genetics-of-cerebellar-disorders
#8
Enza Maria Valente, Sara Nuovo, Dan Doherty
The approach to identifying a genetic cause in patients with cerebellar disorders relies on history, examination, consultation, and testing, combined with specialized expertise because they are rare and genetically diverse. Cerebellar disorders can be caused by a variety of DNA alterations including single-nucleotide changes, small insertions or deletions, larger copy number variants, and nucleotide repeat expansions, exhibiting autosomal-recessive, autosomal-dominant (inherited and de novo), X-linked, and mitochondrial modes of inheritance...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903419/catching-up-with-lyme-disease-antigenic-variation-computationally
#9
Steven J Norris
The spirochetes that cause Lyme disease have an elaborate antigenic variation system that produces millions of variants, thus evading the immune response. Verhey et al. have applied next-generation sequencing and computational analysis to gain new insights into how these bacteria keep 'one step ahead' of elimination by the host.
June 11, 2018: Trends in Microbiology
https://www.readbyqxmd.com/read/29903031/what-s-new-in-pontocerebellar-hypoplasia-an-update-on-genes-and-subtypes
#10
REVIEW
Tessa van Dijk, Frank Baas, Peter G Barth, Bwee Tien Poll-The
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT: In this review we describe the clinical, neuroradiological and genetic characteristics of the different PCH subtypes, summarize the differential diagnosis and reflect on potential disease mechanisms in PCH...
June 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29902298/prevalence-of-pdl1-amplification-and-preliminary-response-to-immune-checkpoint-blockade-in-solid-tumors
#11
Aaron M Goodman, David Piccioni, Shumei Kato, Amélie Boichard, Huan-You Wang, Garrett Frampton, Scott M Lippman, Caitlin Connelly, David Fabrizio, Vincent Miller, Jason K Sicklick, Razelle Kurzrock
Importance: Copy number alterations in programmed cell death ligand 1 (PDL1 or CD274), programmed cell death 1 ligand 2 (PDCD1LG2 or PDL2), and Janus kinase 2 (JAK2) genes (chromosome 9p24.1) characterize Hodgkin lymphoma, resulting in high response rates to programmed cell death 1 (PD-1)/programmed cell death ligand 1 (PD-L1) blockade. The prevalence and utility of PDL1 amplification as a response biomarker to PD-1/PD-L1 blockade are unknown in other tumors. Objectives: To examine the prevalence of PDL1 amplification and its utility as a response biomarker to PD-1/PD-L1 blockade in solid tumors...
June 14, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29902295/association-of-erbb-mutations-with-clinical-outcomes-of-afatinib-or-erlotinib-treated-patients-with-lung-squamous-cell-carcinoma-secondary-analysis-of-the-lux-lung-8-randomized-clinical-trial
#12
Glenwood D Goss, Enriqueta Felip, Manuel Cobo, Shun Lu, Konstantinos Syrigos, Ki Hyeong Lee, Erdem Göker, Vassilis Georgoulias, Wei Li, Salih Guclu, Dolores Isla, Young Joo Min, Alessandro Morabito, Andrea Ardizzoni, Shirish M Gadgeel, Andrea Fülöp, Claudia Bühnemann, Neil Gibson, Nicole Krämer, Flavio Solca, Agnieszka Cseh, Eva Ehrnrooth, Jean-Charles Soria
Importance: Treatment choice for lung squamous cell carcinoma could be aided by identifying predictive biomarkers. Objective: To assess whether patient outcomes in the LUX-Lung 8 trial were associated with ERBB gene family member aberrations in tumor specimens. Design, Setting, and Participants: Ad hoc secondary analysis of the LUX-Lung 8 trial conducted at 183 centers in 23 countries from March 30, 2012, to January 30, 2014. Eligible patients had stage IIIB or IV lung squamous cell carcinoma with progressive disease after 4 or more cycles of platinum-based chemotherapy...
June 14, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29902286/association-of-somatic-driver-alterations-with-prognosis-in-postmenopausal-hormone-receptor-positive-her2-negative-early-breast-cancer-a-secondary-analysis-of-the-big-1-98-randomized-clinical-trial
#13
Stephen J Luen, Rebecca Asher, Chee Khoon Lee, Peter Savas, Roswitha Kammler, Patrizia Dell'Orto, Olivia Maria Biasi, David Demanse, Lellean JeBailey, Sinead Dolan, Wolfgang Hackl, Beat Thuerlimann, Giuseppe Viale, Marco Colleoni, Meredith M Regan, Sherene Loi
Importance: A range of somatic driver alterations has been described in estrogen receptor-positive, HER2-negative (ER+/HER2-) early breast cancer (BC); however, the clinical relevance is unknown. Objective: To investigate associations of driver alterations with prognosis and the role of PIK3CA mutations in prediction of benefit associated with endocrine therapy in postmenopausal patients with ER+/HER2- early BC treated with tamoxifen or letrozole. Design, Setting, and Participants: The Breast International Group (BIG) 1-98 trial randomized 8010 postmenopausal patients with hormone receptor-positive, operable, invasive BC to monotherapy with letrozole, tamoxifen, or a sequential strategy for 5 years...
June 14, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29902267/evaluation-of-bisulfite-kits-for-dna-methylation-profiling-in-terms-of-dna-fragmentation-and-dna-recovery-using-digital-pcr
#14
Sam Kint, Ward De Spiegelaere, Jonas De Kesel, Linos Vandekerckhove, Wim Van Criekinge
DNA methylation is one of the most important epigenetic modifications in the regulation of gene transcription. The current gold standard to study this modification is bisulfite sequencing. Although multiple commercial bisulfite treatment kits provide good conversion efficiencies, DNA loss and especially DNA fragmentation remain troublesome. This hampers DNA methylation profiling of long DNA sequences. Here, we explored the performance of twelve commercial bisulfite kits by an in-depth comparison of DNA fragmentation using gel electrophoresis, qPCR and digital PCR, DNA recovery by spectroscopic measurements and digital PCR and conversion efficiency by next generation sequencing...
2018: PloS One
https://www.readbyqxmd.com/read/29901616/a-novel-dmd-splicing-mutation-found-in-a-family-responsible-for-x-linked-dilated-cardiomyopathy-with-hyper-ckemia
#15
Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang
This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia.We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and immunohistochemistry for accessing sarcolemma changes. The next-generation sequencing and bioinformatics analysis were performed on the patient and Sanger sequencing was confirmed on the other 6 unaffected families...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29901518/chronic-pancreatitis-an-update-on-genetic-risk-factors
#16
Frank U Weiss, Mariya E Skube, Markus M Lerch
PURPOSE OF REVIEW: Genetic mutations in genes within and outside of the trypsin-dependent pathologic pathway have been found to be associated with chronic pancreatitis. This review highlights recent developments. RECENT FINDINGS: CTRB1-CTRB2 has been identified as a new risk locus for chronic pancreatitis and the disease mechanism may involve trypsin degradation. Misfolding mutations in PRSS1, CPA1, and CEL, as well as environmental stress factors like tobacco and alcohol can trigger endoplasmic reticulum stress (ER-Stress)...
June 8, 2018: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/29901149/diagnostic-value-and-lymph-node-metastasis-prediction-of-a-custom%C3%A2-made-panel-thyroline-in-thyroid-cancer
#17
Zunfu Ke, Yihao Liu, Yunjian Zhang, Jie Li, Ming Kuang, Sui Peng, Jinyu Liang, Shuang Yu, Lei Su, Lili Chen, Cong Sun, Bin Li, Jessica Cao, Weiming Lv, Haipeng Xiao
Differentiation of benign and malignant thyroid nodules is crucial for clinical management. Here, we explored the efficacy of next‑generation sequencing (NGS) in predicting the classification of benign and malignant thyroid nodules and lymph node metastasis status, and simultaneously compared the results with ultrasound (US). Thyroline was designed to detect 15 target gene mutations and 2 fusions in 98 formalin‑fixed, paraffin‑embedded (FFPE) tissues, including those from 82 thyroid cancer (TC) patients and 16 patients with benign nodules...
June 14, 2018: Oncology Reports
https://www.readbyqxmd.com/read/29901142/targeted-resequencing-of-phosphorus-metabolism%C3%A2-related-genes-in-86-patients-with-hypophosphatemic-rickets-osteomalacia
#18
Jiemei Gu, Chun Wang, Hao Zhang, Hua Yue, Weiwei Hu, Jinwei He, Wenzhen Fu, Zhenlin Zhang
Hypophosphatemic rickets/osteomalacia is characterized by defective renal phosphate reabsorption and abnormal bone mineralization. Hypophosphatemic rickets/osteomalacia consists of inherited and acquired forms, many of which have unknown aetiology. In the present study, next‑generation sequencing‑based resequencing was used on samples from Chinese subjects with hypophosphatemic rickets/osteomalacia, aiming to detect the spectrum of pathogenic genes in these patients. A total of 86 hypophosphatemic rickets/osteomalacia patients (ranging from 3 to 70 years old) were recruited...
June 13, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29901124/a-novel-apc-mutation-identified-in-a-large-chinese-family-with-familial-adenomatous-polyposis-and-a-brief-literature-review
#19
Minghui Pang, Yijun Liu, Xiaolin Hou, Jialiang Yang, Xuelai He, Nengyi Hou, Peixi Liu, Luo Liang, Junwen Fu, Kang Wang, Zimeng Ye, Bo Gong
Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP...
June 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29900824/an-implementation-of-next-generation-sequencing-for-prevention-and-diagnosis-of-urinary-tract-infection-in-urology
#20
Vladimir Mouraviev, Michael McDonald
INTRODUCTION: The changing face of current infection phenotypes from planktonic to biofilm type has been developed implicating bacterial biofilms in recurrent infection. To date, no specific medical treatment exists to specifically target biofilms in the human host. Similarly, the identification of a biofilm has relied upon the analysis of tissue samples with electron microscopy or DNA identification with polymerase chain reaction (PCR) and sequencing. Standard culture and sensitivity test is not able to detect a presence of biofilms...
June 2018: Canadian Journal of Urology
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