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Molecular genetic personality

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https://www.readbyqxmd.com/read/28429075/toward-personalized-management-in-bladder-cancer-the-promise-of-novel-molecular-taxonomy
#1
REVIEW
Marie-Lisa Eich, Lars Dyrskjøt, George J Netto
Empowered by the recent advances in next generation sequencing and bioinformatics technology, an unprecedented wave of integrated transcriptomic and genomic studies have impacted the field of bladder cancer. These studies not only have confirmed previously charted genetic pathways in bladder cancer development but also have led to the discovery of numerous additional crucial driver genetic alterations. As a result, a novel genomic-based taxonomy is emerging that promises to better define clinically relevant intrinsic subtypes of bladder cancer...
April 21, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28424517/molecular-genetics-chaperone-protein-gets-personal
#2
Mark L Siegal
No abstract text is available yet for this article.
April 19, 2017: Nature
https://www.readbyqxmd.com/read/28423549/her2-specific-recombinant-immunotoxin-4d5scfv-pe40-passes-through-retrograde-trafficking-route-and-forces-cells-to-enter-apoptosis
#3
Evgeniya Sokolova, Evgeniy Guryev, Andrey Yudintsev, Vladimir Vodeneev, Sergey Deyev, Irina Balalaeva
Immunotoxin 4D5scFv-PE40 is a recombinant protein that comprises 4D5scFv antibody as a targeting module and fragment of Pseudomonas exotoxin A as an effector (toxic) one. The immunotoxin has shown pronounced antitumor effect on cancer cells overexpressing HER2 receptor in vitro and on HER2-positive experimental tumors in vivo. We clarified the mechanism of 4D5scFv-PE40 activity that is of particular importance in the case of targeted therapeutic agent aimed at personalizing treatment of disease in relation to molecular genetic characteristics of each patient...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415992/women-epidemiology-lung-cancer-welca-study-reproductive-hormonal-occupational-risk-factors-and-biobank
#4
Isabelle Stücker, Diane Martin, Monica Neri, Pierre Laurent-Puig, Hélène Blons, Martine Antoine, Anne Guiochon-Mantel, Sylvie Brailly-Tabard, Marianne Canonico, Marie Wislez, Jean Trédaniel
BACKGROUND: Lung cancer aetiology and clinical aspects have been mainly studied in men, although specific risk factors probably exist in women. Here we present the rationale, design and organization of the WELCA study (Women Epidemiology Lung CAncer) that has been launched to investigate lung cancer in women, focusing particularly on hormonal and occupational factors. METHODS/DESIGN: WELCA is a population based case-control study and planned to recruit 1000 cases and 1000 controls in three years, based on study power calculation...
April 17, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28415743/survival-differences-of-cimp-subtypes-integrated-with-cna-information-in-human-breast-cancer
#5
Huihan Wang, Weili Yan, Shumei Zhang, Yue Gu, Yihan Wang, Yanjun Wei, Hongbo Liu, Fang Wang, Qiong Wu, Yan Zhang
CpG island methylator phenotype of breast cancer is associated with widespread aberrant methylation at specified CpG islands and distinct patient outcomes. However, the influence of copy number contributing to the prognosis of tumors with different CpG island methylator phenotypes is still unclear. We analyzed both genetic (copy number) and epigenetic alterations in 765 breast cancers from The Cancer Genome Atlas data portal and got a panel of 15 biomarkers for copy number and methylation status evaluation...
March 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415671/predictors-and-prognosticators-for-survival-with-yttrium-90-radioembolization-therapy-for-unresectable-colorectal-cancer-liver-metastasis
#6
REVIEW
Meaghan S Dendy, Johannes M Ludwig, Hyun S Kim
This critical review aims to explore predictive and prognostic biomarkers of Yttrium-90 (Y90) radioembolization therapy of colorectal liver metastases. A brief overview of established predictive and prognostic molecular and genetic biomarkers in colorectal cancer therapies will be discussed. A review of the literature on imaging modalities, genetic, metabolic and other molecular markers and the subsequent outcomes in post-Y90 treatment will be presented. How these biomarkers and future biomarker research can inform locoregional treatment decisions in the clinical setting of metastatic colorectal cancer lesions of the liver will be explored...
March 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28408469/cell-wall-deficient-l-form-bacteria-in-the-21st-century-a-personal-perspective
#7
REVIEW
Jeff Errington
The peptidoglycan (PG) cell wall is a defining feature of the bacteria. It emerged very early in evolution and must have contributed significantly to the success of these organisms. The wall features prominently in our thinking about bacterial cell function, and its synthesis involves the action of several dozen proteins that are normally essential for viability. Surprisingly, it turns out to be relatively simple to generate bacterial genetic variants called L-forms that completely lack PG. They grow robustly provided that lack of the cell wall is compensated for by an osmoprotective growth medium...
April 15, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/28405885/sudden-death-due-to-catecholaminergic-polymorphic-ventricular-tachycardia-following-negative-stress-test-outcome-genetics-and-clinical-implications
#8
Cristian D'Ovidio, Aldo Carnevale, Vincenzo M Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia...
April 13, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28397836/efhd2-swiprosin-1-is-a-common-genetic-determinator-for-sensation-seeking-low-anxiety-and-alcohol-addiction
#9
D Mielenz, M Reichel, T Jia, E B Quinlan, T Stöckl, M Mettang, D Zilske, E Kirmizi-Alsan, P Schönberger, M Praetner, S E Huber, D Amato, M Schwarz, P Purohit, S Brachs, J Spranger, A Hess, C Büttner, A B Ekici, F Perez-Branguli, B Winner, V Rauschenberger, T Banaschewski, A L W Bokde, C Büchel, P J Conrod, S Desrivières, H Flor, V Frouin, J Gallinat, H Garavan, P Gowland, A Heinz, J-L Martinot, H Lemaitre, F Nees, T Paus, M N Smolka, A Schambony, T Bäuerle, V Eulenburg, C Alzheimer, A Lourdusamy, G Schumann, C P Müller
In many societies, the majority of adults regularly consume alcohol. However, only a small proportion develops alcohol addiction. Individuals at risk often show a high sensation-seeking/low-anxiety behavioural phenotype. Here we asked which role EF hand domain containing 2 (EFhd2; Swiprosin-1) plays in the control of alcohol addiction-associated behaviours. EFhd2 knockout (KO) mice drink more alcohol than controls and spontaneously escalate their consumption. This coincided with a sensation-seeking and low-anxiety phenotype...
April 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28391895/identification-of-a-novel-lmf1-nonsense-mutation-responsible-for-severe-hypertriglyceridemia-by-targeted-next-generation-sequencing
#10
Angelo B Cefalù, Rossella Spina, Davide Noto, Valeria Ingrassia, Vincenza Valenti, Antonina Giammanco, Francesca Fayer, Gabriella Misiano, Gianfranco Cocorullo, Chiara Scrimali, Ornella Palesano, Grazia I Altieri, Antonina Ganci, Carlo M Barbagallo, Maurizio R Averna
BACKGROUND: Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. OBJECTIVE: The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. METHODS: We developed a targeted customized panel for next-generation sequencing Ion Torrent Personal Genome Machine to capture the coding exons and intron/exon boundaries of 18 genes affecting the main pathways of TG synthesis and metabolism...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28389139/emerging-molecular-therapeutic-targets-for-cholangiocarcinoma
#11
REVIEW
Sumera Rizvi, Gregory J Gores
Cholangiocarcinomas (CCAs) are diverse epithelial tumors arising from the liver or large bile ducts with features of cholangiocyte differentiation, and are classified anatomically into intrahepatic (iCCA), perihilar (pCCA), and distal CCA (dCCA). Each subtype has distinct risk factors, molecular pathogenesis, therapeutic options, and prognosis. CCA is an aggressive malignancy with a poor overall prognosis and median survival of less than 2 years in patients with advanced disease. Potentially curative surgical treatment options are limited to the subset of patients with early stage disease...
April 4, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28388695/regulation-of-drug-metabolism-and-toxicity-by-multiple-factors-of-genetics-epigenetics-lncrnas-gut-microbiota-and-diseases-a-meeting-report-of-the-21-st-international-symposium-on-microsomes-and-drug-oxidations-mdo
#12
Ai-Ming Yu, Magnus Ingelman-Sundberg, Nathan J Cherrington, Lauren M Aleksunes, Ulrich M Zanger, Wen Xie, Hyunyoung Jeong, Edward M Morgan, Peter J Turnbaugh, Curtis D Klaassen, Aadra P Bhatt, Matthew R Redinbo, Pengying Hao, David J Waxman, Li Wang, Xiao-Bo Zhong
Variations in drug metabolism may alter drug efficacy and cause toxicity; better understanding of the mechanisms and risks shall help to practice precision medicine. At the 21(st) International Symposium on Microsomes and Drug Oxidations held in Davis, California, USA, in October 2-6, 2016, a number of speakers reported some new findings and ongoing studies on the regulation mechanisms behind variable drug metabolism and toxicity, and discussed potential implications to personalized medications. A considerably insightful overview was provided on genetic and epigenetic regulation of gene expression involved in drug absorption, distribution, metabolism, and excretion (ADME) and drug response...
March 2017: Acta Pharmaceutica Sinica. B
https://www.readbyqxmd.com/read/28387180/mycobacterium-marinum
#13
Alexandra Aubry, Faiza Mougari, Florence Reibel, Emmanuelle Cambau
Mycobacterium marinum is a well-known pathogenic mycobacterium for skin and soft tissue infections and is associated with fishes and water. Among nontuberculous mycobacteria (NTM), it is the leading cause of extrarespiratory human infections worldwide. In addition, there is a specific scientific interest in M. marinum because of its genetic relatedness to Mycobacterium tuberculosis and because experimental infection of M. marinum in fishes mimics tuberculosis pathogenesis. Microbiological characteristics include the fact that it grows in 7 to 14 days with photochromogenic colonies and is difficult to differentiate from Mycobacterium ulcerans and other mycolactone-producing NTM on a molecular basis...
April 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28386105/measurable-residual-disease-testing-in-acute-myeloid-leukaemia
#14
REVIEW
C S Hourigan, R P Gale, N J Gormley, G J Ossenkoppele, R B Walter
There is considerable interest in developing techniques to detect and/or quantify remaining leukaemia cells termed measurable or, less precisely, minimal residual disease (MRD) in persons with acute myeloid leukaemia (AML) in complete remission defined by cytomorphological criteria. An important reason for AML MRD-testing is the possibility of estimating the likelihood (and timing) of leukaemia relapse. A perfect MRD-test would precisely quantify leukaemia cells biologically able and likely to cause leukaemia relapse within a defined interval...
April 21, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28385796/harnessing-preclinical-molecular-imaging-to-inform-advances-in-personalized-cancer-medicine
#15
Peter Clark, Victoria A Ebiana, Laura Gosa, Timothy F Cloughesy, David A Nathanson
Comprehensive molecular analysis of individual tumors provides great potential for personalized cancer therapy. However, the presence of a specific genetic alteration is often insufficient to predict therapeutic efficacy. Drugs with distinct mechanisms of action can affect the biology of tumors in specific and unique ways. Therefore, assays that can measure drug-induced perturbations to defined functional tumor properties can be highly complementary to genomic analysis. Positron emission tomography (PET) provides the capacity to non-invasively measure the dynamics of various tumor biological processes in vivo...
April 6, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28385057/a-comprehensive-molecular-investigation-of-%C3%AE-thalassemia-in-an-iranian-cohort-from-different-provinces-of-north-iran
#16
Hajar Eftekhari, Ahmad Tamaddoni, Hassan Mahmoudi Nesheli, Mohsen Vakili, Sadegh Sedaghat, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing...
April 7, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28378229/advances-in-the-development-of-molecularly-targeted-agents-in-non-small-cell-lung-cancer
#17
Saoirse O Dolly, Dearbhaile C Collins, Raghav Sundar, Sanjay Popat, Timothy A Yap
Non-small-cell lung cancer (NSCLC) remains a significant global health challenge and the leading cause of cancer-related mortality. The traditional 'one-size-fits-all' treatment approach has now evolved into one that involves personalized strategies based on histological and molecular subtypes. The molecular era has revolutionized the treatment of patients harboring epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK) and ROS1 gene aberrations. In the appropriately selected population, anti-tumor agents against these molecular targets can significantly improve progression-free survival...
April 4, 2017: Drugs
https://www.readbyqxmd.com/read/28367231/molecular-subtyping-of-pancreatic-cancer-translating-genomics-and-transcriptomics-into-the-clinic
#18
REVIEW
Yongxing Du, Bangbo Zhao, Ziwen Liu, Xiaoxia Ren, Wenjing Zhao, Zongze Li, Lei You, Yupei Zhao
Pancreatic cancer remains one of the most lethal malignancies, and insights into both personalized diagnosis and intervention of this disease are urgently needed. The rapid development of sequencing technologies has enabled the successive completion of a series of genetic and epigenetic sequencing studies of pancreatic cancer. The mutational landscape of pancreatic cancer is generally portrayed in terms of somatic mutations, structural variations, epigenetic alterations and the core signaling pathways. In recent years, four significant molecular subtype classifications of pancreatic cancer have been proposed based on the expression of transcription factors and downstream targets or the distribution of structural rearrangements...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28359242/small-molecule-inhibitors-of-epigenetic-mutations-as-compelling-drug-targets-for-myelodysplastic-syndromes
#19
Bani Bandana Ganguly
BACKGROUND: Involvement of mutations in epigenetic mechanism in development of heterogeneous MDS and its evolution to AML has been understood with at least one mutation and median of 2-3 mutations of the landscapes of driver mutations in ~40 genes described >90% MDS patients. Exclusivity and cooperating effects of mutations have directed therapeutic implementation with hypomethylating agents and identified a number of first-in-class small molecules as inhibitors of mutational expression...
March 30, 2017: Current Cancer Drug Targets
https://www.readbyqxmd.com/read/28356599/towards-personalized-medicine-in-melanoma-implementation-of-a-clinical-next-generation-sequencing-panel
#20
Blanca de Unamuno Bustos, Rosa Murria Estal, Gema Pérez Simó, Inmaculada de Juan Jimenez, Begoña Escutia Muñoz, Mercedes Rodríguez Serna, Victor Alegre de Miquel, Margarita Llavador Ros, Rosa Ballester Sánchez, Eduardo Nagore Enguídanos, Sarai Palanca Suela, Rafael Botella Estrada
Molecular diagnostics are increasingly performed routinely in the diagnosis and management of patients with melanoma due to the development of novel therapies that target specific genetic mutations. The development of next-generation sequencing (NGS) technologies has enabled to sequence multiple cancer-driving genes in a single assay, with improved sensitivity in mutation detection. The main objective of this study was the design and implementation of a melanoma-specific sequencing panel, and the identification of the spectrum of somatic mutations in a series of primary melanoma samples...
March 29, 2017: Scientific Reports
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