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https://www.readbyqxmd.com/read/29458134/antiviral-activity-of-pyrrole-imidazole-polyamides-against-sv40-and-bk-polyomaviruses
#1
Terri G Edwards, Chris Fisher
The ability of antiviral polyamides (AVP) to act upon polyomaviruses (PyV) was evaluated. Initial studies found that a single treatment of AVP protected SV40-infected BSC-1 cells from cytopathic effect (CPE) for as long as 11 days p.i.. AVP substantially suppressed SV40 genome copy numbers over the duration of the experiment. Immunofluorescence analysis of ataxia-telangiectasia mutated (ATM) activation and large T antigen (LTag) expression clearly demonstrated that AVP treatment at day 1 p.i. delayed the onset of productive SV40 replication by approximately 3 days, and substantially limited the infection relative to vehicle-treated controls...
February 16, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29458007/a-genomically-characterized-collection-of-high-grade-serous-ovarian-cancer-xenografts-for-preclinical-testing
#2
Paulina Cybulska, Jocelyn M Stewart, Azin Sayad, Carl Virtanen, Patricia A Shaw, Blaise Clarke, Natalie Stickle, Marcus Q Bernardini, Benjamin G Neel
High-grade serous ovarian cancer (HGSC) is the leading cause of morbidity and mortality from gynecologic malignancy. Overall survival remains low, due to the nearly ubiquitous emergence of platinum-resistance and the paucity of effective next-line treatments. Current cell culture-based models show limited similarity to HGSC and are therefore unreliable predictive models for pre-clinical evaluation of investigational drugs. This deficiency could help explain the low overall rate of successful drug development and the decades of largely unchanged approaches to HGSC treatment...
February 16, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29457878/genetic-determinants-of-heart-failure-facts-and-numbers
#3
EDITORIAL
Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing...
February 19, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29457796/h3b-8800-an-orally-available-small-molecule-splicing-modulator-induces-lethality-in-spliceosome-mutant-cancers
#4
Michael Seiler, Akihide Yoshimi, Rachel Darman, Betty Chan, Gregg Keaney, Michael Thomas, Anant A Agrawal, Benjamin Caleb, Alfredo Csibi, Eckley Sean, Peter Fekkes, Craig Karr, Virginia Klimek, George Lai, Linda Lee, Pavan Kumar, Stanley Chun-Wei Lee, Xiang Liu, Crystal Mackenzie, Carol Meeske, Yoshiharu Mizui, Eric Padron, Eunice Park, Ermira Pazolli, Shouyong Peng, Sudeep Prajapati, Justin Taylor, Teng Teng, John Wang, Markus Warmuth, Huilan Yao, Lihua Yu, Ping Zhu, Omar Abdel-Wahab, Peter G Smith, Silvia Buonamici
Genomic analyses of cancer have identified recurrent point mutations in the RNA splicing factor-encoding genes SF3B1, U2AF1, and SRSF2 that confer an alteration of function. Cancer cells bearing these mutations are preferentially dependent on wild-type (WT) spliceosome function, but clinically relevant means to therapeutically target the spliceosome do not currently exist. Here we describe an orally available modulator of the SF3b complex, H3B-8800, which potently and preferentially kills spliceosome-mutant epithelial and hematologic tumor cells...
February 19, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29457665/comparative-analysis-of-lipid-mediated-crispr-cas9-genome-editing-techniques
#5
Kelsey P Ringer, Mark G Roth, Mitchell S Garey, Ted B Piorczynski, Arminda Suli, Jason M Hansen, Jonathan K Alder
CRISPR-Cas technology has revolutionized genome engineering. While Cas9 was not the first programmable endonuclease identified, its simplicity of use has driven widespread adoption in a short period of time. While CRISPR-Cas genome editing holds enormous potential for clinical applications, its use in laboratory settings for genotype-phenotype studies and genome-wide screens has led to breakthroughs in the understanding of many molecular pathways. Numerous protocols have been described for introducing CRISPR-Cas components into cells, and here we sought to simplify and optimize a protocol for genome editing using readily available and inexpensive tools...
February 19, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29457138/leveraging-the-learning-health-care-model-to-improve-equity-in-the-age-of-genomic-medicine
#6
Katherine D Blizinsky, Vence L Bonham
To fully achieve the goals of a genomics-enabled learning health care system, purposeful efforts to understand and reduce health disparities and improve equity of care are essential. This paper highlights three major challenges facing genomics-enabled learning health care systems, as they pertain to ancestrally diverse populations: inequality in the utility of genomic medicine; lack of access to pharmacogenomics in clinical care; and inadequate incorporation of social and environmental data into the electronic health care record (EHR)...
January 2018: Learning Health Systems
https://www.readbyqxmd.com/read/29456854/novel-braf-mutation-in-melanoma-a-case-report
#7
Serena Trubini, Alessandro Ubiali, Carlo Terenzio Paties, Luigi Cavanna
In melanoma, a number of specific genetic and genomic aberrations have been identified to be important in tumorigenesis. In particular, the mutant B-Raf proto-oncogene, Serine/Threonine kinase (BRAF) gene is the target of tailored therapy with kinase inhibitor molecules. Identification of the array of mutations in patients with melanoma will be useful in determining a genetic profile of the tumor with potential implications for treatment decisions. A rare aminoacidic insertion in codon 599 of the BRAF gene (c...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29456765/peripheral-blood-epi-signature-of-claes-jensen-syndrome-enables-sensitive-and-specific-identification-of-patients-and-healthy-carriers-with-pathogenic-mutations-in-kdm5c
#8
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic
Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. We hypothesized that loss of Kdm5c function may influence other components of the epigenomic machinery including DNA methylation in affected patients...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29456741/overexpression-of-flavin-containing-monooxygenase-5-predicts-poor-prognosis-in-patients-with-colorectal-cancer
#9
Tong Zhang, Ping Yang, Jianchang Wei, Wanglin Li, Junbin Zhong, Huacui Chen, Jie Cao
The present study investigated the expression and clinical significance of flavin-containing monooxygenase 5 (FMO5) in colorectal cancer (CRC). The expression of FMO5 was detected by immunohistochemistry in 208 colon cancer tissues and 8 normal colon tissues. Then, the correlations of FMO5 expression with several clinicopathological features were evaluated. FMO5 mRNA expression from The Cancer Genome Atlas dataset was assessed for further validation. In addition, the association of the expression of FMO5 with prognosis was further evaluated by Kaplan-Meier survival curves and Cox proportional hazards model...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29456732/two-protein-coding-genes-act-as-a-novel-clinical-signature-to-predict-prognosis-in-patients-with-ovarian-serous-cystadenocarcinoma
#10
Jue Zhang, Meng Xu, Han Gao, Jin-Chen Guo, Yu-Lin Guo, Miao Zou, Xu-Feng Wu
Ovarian cancer is the seventh most common type of cancer and the eighth most common cause of cancer-associated mortality among women. A number of studies have hypothesized that the expression status of certain genes may be used to predict prognosis in ovarian cancer. In the present study, the RNA expression data from next-generation sequencing and the clinical information of 413 patients from The Cancer Genome Atlas dataset was downloaded to identify the association between gene-expression level and the survival time of the patients with ovarian serous cystadenocarcinoma...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29456719/estrogen-receptor-%C3%AE-promoter-methylation-is-a-biomarker-for-outcome-prediction-of-cisplatin-resistance-in-triple-negative-breast-cancer
#11
Junnan Xu, Tao Sun, Xiangyu Guo, Yan Wang, Mingxi Jing
A number of previous studies have indicated the presence of a link between estrogen receptor-α (ERα) methylation and triple-negative breast cancer (TNBC). However, the association between ERα methylation and drug resistance during the treatment of TNBC remains unclear. Methylation-specific polymerase chain reaction was used to investigate the methylation of ERα in the genomic DNA of 35 patients with TNBC who were defined as cisplatin-based chemotherapy-resistant using chemosensitivity testing. Survival probabilities by covariates were assessed using Kaplan-Meier estimator survival analysis and Cox's proportional hazards models, adjusting for age, menopausal status, tumor size, lymph node metastasis and ERα promoter DNA methylation...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29456628/identification-of-influential-observations-in-high-dimensional-cancer-survival-data-through-the-rank-product-test
#12
Eunice Carrasquinha, André Veríssimo, Marta B Lopes, Susana Vinga
Background: Survival analysis is a statistical technique widely used in many fields of science, in particular in the medical area, and which studies the time until an event of interest occurs. Outlier detection in this context has gained great importance due to the fact that the identification of long or short-term survivors may lead to the detection of new prognostic factors. However, the results obtained using different outlier detection methods and residuals are seldom the same and are strongly dependent of the specific Cox proportional hazards model selected...
2018: BioData Mining
https://www.readbyqxmd.com/read/29456241/ecology-and-evolution-of-mycobacterium-tuberculosis
#13
REVIEW
Sebastien Gagneux
Tuberculosis (TB) is the number one cause of human death due to an infectious disease. The causative agents of TB are a group of closely related bacteria known as the Mycobacterium tuberculosis complex (MTBC). As the MTBC exhibits a clonal population structure with low DNA sequence diversity, methods (such as multilocus sequence typing) that are applied to more genetically diverse bacteria are uninformative, and much of the ecology and evolution of the MTBC has therefore remained unknown. Owing to recent advances in whole-genome sequencing and analyses of large collections of MTBC clinical isolates from around the world, many new insights have been gained, including a better understanding of the origin of the MTBC as an obligate pathogen and its molecular evolution and population genetic characteristics both within and between hosts, as well as many aspects related to antibiotic resistance...
February 19, 2018: Nature Reviews. Microbiology
https://www.readbyqxmd.com/read/29456114/detection-and-genetic-characterization-of-mamastrovirus-5-from-brazilian-dogs
#14
Christian D B T Alves, Renata F Budaszewski, Marcela Torikachvili, André F Streck, Matheus N Weber, Samuel P Cibulski, Ana P Ravazzolo, Vagner R Lunge, Cláudio W Canal
Mamastrovirus 5 (MAstV5), belonging to the Astroviridae (AstV) family, previously known as canine astrovirus or astrovirus-like particles, has been reported in several countries to be associated with viral enteric disease in dogs since the 1980s. Astroviruses have been detected in fecal samples from a wide variety of mammals and birds that are associated with gastroenteritis and extra enteric manifestations. In the present study, RT-PCR was used to investigate the presence of MAstV5 in 269 dog fecal samples...
February 2, 2018: Brazilian Journal of Microbiology: [publication of the Brazilian Society for Microbiology]
https://www.readbyqxmd.com/read/29455675/the-function-and-therapeutic-targeting-of-anaplastic-lymphoma-kinase-alk-in-non-small-cell-lung-cancer-nsclc
#15
REVIEW
Brandon Golding, Anita Luu, Robert Jones, Alicia M Viloria-Petit
Lung cancer is the leading cause of death by cancer in North America. A decade ago, genomic rearrangements in the anaplastic lymphoma kinase (ALK) receptor tyrosine kinase were identified in a subset of non-small cell lung carcinoma (NSCLC) patients. Soon after, crizotinib, a small molecule ATP-competitive ALK inhibitor was proven to be more effective than chemotherapy in ALK-positive NSCLC patients. Crizotinib and two other ATP-competitive ALK inhibitors, ceritinib and alectinib, are approved for use as a first-line therapy in these patients, where ALK rearrangement is currently diagnosed by immunohistochemistry and in situ hybridization...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455673/kinase-targeted-cancer-therapies-progress-challenges-and-future-directions
#16
REVIEW
Khushwant S Bhullar, Naiara Orrego Lagarón, Eileen M McGowan, Indu Parmar, Amitabh Jha, Basil P Hubbard, H P Vasantha Rupasinghe
The human genome encodes 538 protein kinases that transfer a γ-phosphate group from ATP to serine, threonine, or tyrosine residues. Many of these kinases are associated with human cancer initiation and progression. The recent development of small-molecule kinase inhibitors for the treatment of diverse types of cancer has proven successful in clinical therapy. Significantly, protein kinases are the second most targeted group of drug targets, after the G-protein-coupled receptors. Since the development of the first protein kinase inhibitor, in the early 1980s, 37 kinase inhibitors have received FDA approval for treatment of malignancies such as breast and lung cancer...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455571/genetic-variation-of-the-kinases-that-phosphorylate-tenofovir-and-emtricitabine-in-peripheral-blood-mononuclear-cells
#17
Dominique Figueroa, Erin Madeen, Joseph Tillotson, Paul Richardson, Leslie Cottle, Marybeth McCauley, Raphael Landovitz, Adriana Andrade, Craig W Hendrix, Kenneth H Mayer, T J Wilkin, Roy Gulick, Namandjé N Bumpus
Tenofovir (TFV) disoproxil fumarate and emtricitabine (FTC) are used in combination for HIV treatment and pre-exposure prophylaxis (PrEP). Tenofovir disoproxil fumarate is a prodrug that undergoes diester hydrolysis to TFV. FTC and TFV are nucleoside/nucleotide reverse transcriptase inhibitors that upon phosphorylation to nucleotide triphosphate analogs competitively inhibit HIV reverse transcriptase. We previously demonstrated that adenylate kinase 2, pyruvate kinase, muscle and pyruvate kinase, liver and red blood cell phosphorylate TFV in peripheral blood mononuclear cells (PBMC)...
February 17, 2018: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/29455524/multiwall-carbon-nanotubes-induce-more-pronounced-transcriptomic-responses-in-pseudomonas-aeruginosa-pg201-than-graphene-exfoliated-boron-nitride-or-carbon-black
#18
Monika Mortimer, Naresh Devarajan, Dong Li, Patricia A Holden
Carbonaceous and boron nitride (BN) nanomaterials have similar applications and hydrophobic properties suggesting common release pathways and exposure to bacteria. While high nanomaterial concentrations can be bactericidal or growth-inhibitory, little is known regarding bacterial transcriptional responses to non-growth-inhibitory nanomaterial concentrations. Here, using one strain of Pseudomonas aeruginosa-a clinically and environmentally important bacterial taxon-we analyzed the comparative transcriptomic response to carbonaceous or BN nanomaterials...
February 19, 2018: ACS Nano
https://www.readbyqxmd.com/read/29455319/development-and-pilot-testing-of-a-decision-aid-for-genomic-research-participants-notified-of-clinically-actionable-research-findings-for-cancer-risk
#19
Amanda M Willis, Sian K Smith, Bettina Meiser, Mandy L Ballinger, David M Thomas, Martin Tattersall, Mary-Anne Young
Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling...
February 17, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29455205/use-of-array-comparative-genomic-hybridization-for-the-diagnosis-of-digeorge-syndrome-in-saudi-arabian-population
#20
Abeer A Bahamat, Mourad Assidi, Sahira A Lary, Muna M Almughamsi, Abdul A Peer Zada, Adeel Chaudhary, Adel Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Despite the prevalence of inherited diseases mainly due to consanguineous marriages, the current diagnosis of DGS in Saudi Arabia is mainly based on conventional high-resolution chromosome banding (karyotyping) and FISH techniques. However, advanced genome-wide studies for detecting microdeletions or duplications across the whole genome are needed...
February 17, 2018: Cytogenetic and Genome Research
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