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https://www.readbyqxmd.com/read/29908350/exome-sequencing-identified-a-de-novo-mutation-of-pura-gene-in-a-patient-with-familial-xp22-31-microduplication
#1
Ying Qiao, Hani Bagheri, Flamingo Tang, Chansonette Badduke, Sally Martell, Suzanne M E Lewis, Wendy Robinson, Mary B Connolly, Laura Arbour, Evica Rajcan-Separovic
The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was transmitted from his cognitively normal maternal grandfather. We found no evidence of the duplication causing the proband's DD and congenital anomalies based on unaltered expression of PNPLA4 in the proband and his mother in comparison to controls and preferential activation of the paternal chromosome X with Xp22...
June 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29908099/pathogenesis-of-primordial-odontogenic-tumour-based-on-tumourigenesis-and-odontogenesis
#2
Toshinari Mikami, Ronell Bologna-Molina, Adalberto Mosqueda-Taylor, Ikuko Ogawa, Vanesa Pereira-Prado, Naoki Fujiwara, Fabio Ramoa Pires, Roman Carlos, Takashi Takata, Yasunori Takeda
OBJECTIVE: Primordial odontogenic tumour (POT) is a rare benign mixed epithelial and mesenchymal odontogenic tumour. POT is composed of dental papilla-like tissue covered with cuboidal to columnar epithelium that resembles to inner and outer enamel epithelium of the enamel organ without dental hard tissue formation. The aim of this study was to examine pathogenesis of POT based on tumourigenesis and odontogenesis. SUBJECTS AND METHODS: Six cases of POT were submitted for study...
June 16, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29907982/results-of-next-generation-sequencing-gene-panel-diagnostics-including-copy-number-variation-analysis-in-810-patients-suspected-of-heritable-thoracic-aortic-disorders
#3
Eline Overwater, Luisa Marsili, Marieke J H Baars, Annette F Baas, Irma van de Beek, Eelco Dulfer, Johanna M van Hagen, Yvonne Hilhorst-Hofstee, Marlies Kempers, Ingrid P Krapels, Leonie A Menke, Judith M A Verhagen, Kak K Yeung, Petra J G Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M Weiss, Els Voorhoeve, J Peter van Tintelen, Arjan C Houweling, Alessandra Maugeri
Simultaneous analysis of multiple genes using next generation sequencing (NGS) technology has become widely available. Copy number variations (CNVs) in disease-associated genes have emerged as a cause for several hereditary disorders. CNVs are, however, not routinely detected using NGS analysis. The aim of this study was to assess the diagnostic yield and the prevalence of CNVs using our panel of Hereditary Thoracic Aortic Disease (H-TAD) associated genes. 810 patients suspected of H-TAD were analysed by targeted NGS analysis of 21 H-TAD associated genes...
June 16, 2018: Human Mutation
https://www.readbyqxmd.com/read/29907873/genetic-background-of-japanese-patients-with-pediatric-hypertrophic-and-restrictive-cardiomyopathy
#4
Takeharu Hayashi, Kousuke Tanimoto, Kayoko Hirayama-Yamada, Etsuko Tsuda, Mamoru Ayusawa, Shinichi Nunoda, Akira Hosaki, Akinori Kimura
Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) present a high risk for sudden cardiac death in pediatric patients. The aim of this study was to identify disease-associated genetic variants in Japanese patients with pediatric HCM and RCM. We analyzed 67 cardiomyopathy-associated genes in 46 HCM and 7 RCM patients diagnosed before 16 years of age using a next-generation sequencing system. We found that 78% of HCM and 71% of RCM patients carried disease-associated genetic variants. Disease-associated genetic variants were identified in 80% of HCM patients with a family history and in 77% of HCM patients with no apparent family history (NFH)...
June 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29907756/correction-cost-of-cancer-diagnosis-using-next-generation-sequencing-targeted-gene-panels-in-routine-practice-a-nationwide-french-study
#5
Patricia Marino, Rajae Touzani, Lionel Perrier, Etienne Rouleau, Dede Sika Kossi, Zou Zhaomin, Nathanaël Charrier, Nicolas Goardon, Claude Preudhomme, Isabelle Durand-Zaleski, Isabelle Borget, Sandrine Baffert
Since the publication of the article, it has been noted that there is an error in Table 2. Where 543€ is listed in the final column of the table, this should have been written as 550€.
June 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29907144/a-rare-chd5-haplotype-and-its-interactions-with-environmental-factors-predicting-hepatocellular-carcinoma-risk
#6
Qin Xiao, Lianzhou Chen, Haiqing Luo, Hongmei Li, Qingming Kong, Fei Jiao, Shifeng Pang, Ming Zhang, Feifei Lan, Wenguo Fan, Hui Luo, Tao Tao, Xiao Zhu
BACKGROUND: CHD5 is a conventional tumour-suppressing gene in many tumours. The aim of this study was to determine whether CHD5 variants contribute to the risk of hepatocellular carcinoma (HCC). METHODS: Gene variants were identified using next-generation sequencing targeted on referenced mutations followed by TaqMan genotyping in two case-control studies. RESULTS: We discovered a rare variant (haplotype AG) in CHD5 (rs12564469-rs9434711) that was markedly associated with the risk of HCC in a Chinese population...
June 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29907142/malbac-based-chromosomal-imbalance-analysis-a-novel-technique-enabling-effective-non-invasive-diagnosis-and-monitoring-of-bladder-cancer
#7
Hao Liu, Wang He, Bo Wang, Kewei Xu, Jinli Han, Junjiong Zheng, Jun Ren, Lin Shao, Shiping Bo, Sijia Lu, Tianxin Lin, Jian Huang
BACKGROUND: The gold standard for bladder cancer detection is cystoscopy, which is an invasive procedure that causes discomfort in patients. The currently available non-invasive approaches either show limited sensitivity in low-grade tumours or possess unsatisfying specificity. The aim of the present study is to develop a new non-invasive strategy based on chromosomal imbalance levels to detect bladder cancer effectively. METHODS: We enrolled 74 patients diagnosed with bladder cancer (BC), 51 healthy participants and 27 patients who were diagnosed with non-malignant urinary disease (UD)...
June 15, 2018: BMC Cancer
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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