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Molecular genetic personality

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https://www.readbyqxmd.com/read/28636540/implementation-and-utilization-of-the-molecular-tumor-board-to-guide-precision-medicine
#1
REVIEW
Shuko Harada, Rebecca Arend, Qian Dai, Jessica A Levesque, Thomas S Winokur, Rongjun Guo, Martin J Heslin, Lisle Nabell, L Burt Nabors, Nita A Limdi, Kevin A Roth, Edward E Partridge, Gene P Siegal, Eddy S Yang
BACKGROUND: With rapid advances in genomic medicine, the complexity of delivering precision medicine to oncology patients across a university health system demanded the creation of a Molecular Tumor Board (MTB) for patient selection and assessment of treatment options. The objective of this report is to analyze our progress to date and discuss the importance of the MTB in the implementation of personalized medicine. MATERIALS AND METHODS: Patients were reviewed in the MTB for appropriateness for comprehensive next generation sequencing (NGS) cancer gene set testing based on set criteria that were in place...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28630456/rare-disruptive-variants-in-the-disc1-interactome-and-regulome-association-with-cognitive-ability-and-schizophrenia
#2
S Teng, P A Thomson, S McCarthy, M Kramer, S Muller, J Lihm, S Morris, D C Soares, W Hennah, S Harris, L M Camargo, V Malkov, A M McIntosh, J K Millar, D H Blackwood, K L Evans, I J Deary, D J Porteous, W R McCombie
Schizophrenia (SCZ), bipolar disorder (BD) and recurrent major depressive disorder (rMDD) are common psychiatric illnesses. All have been associated with lower cognitive ability, and show evidence of genetic overlap and substantial evidence of pleiotropy with cognitive function and neuroticism. Disrupted in schizophrenia 1 (DISC1) protein directly interacts with a large set of proteins (DISC1 Interactome) that are involved in brain development and signaling. Modulation of DISC1 expression alters the expression of a circumscribed set of genes (DISC1 Regulome) that are also implicated in brain biology and disorder...
June 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28628856/mammalian-synthetic-biology-in-the-age-of-genome-editing-and-personalized-medicine
#3
REVIEW
Patrick Ho, Yvonne Y Chen
The recent expansion of molecular tool kits has propelled synthetic biology toward the design of increasingly sophisticated mammalian systems. Specifically, advances in genome editing, protein engineering, and circuitry design have enabled the programming of cells for diverse applications, including regenerative medicine and cancer immunotherapy. The ease with which molecular and cellular interactions can be harnessed promises to yield novel approaches to elucidate genetic interactions, program cellular functions, and design therapeutic interventions...
June 16, 2017: Current Opinion in Chemical Biology
https://www.readbyqxmd.com/read/28626361/molecular-biomarkers-of-colorectal-cancer-and-cancer-disparities-current-status-and-perspective
#4
Upender Manne, Trafina Jadhav, Balananda-Dhurjati Kumar Putcha, Temesgen Samuel, Shivani Soni, Chandrakumar Shanmugam, Esther A Suswam
This review provides updates on the efforts for the development of prognostic and predictive markers in colorectal cancer based on the race/ethnicity of patients. Since the clinical consequences of genetic and molecular alterations differ with patient race and ethnicity, the usefulness of these molecular alterations as biomarkers needs to be evaluated in different racial/ethnic groups. To accomplish personalized patient care, a combined analysis of multiple molecular alterations in DNA, RNA, microRNAs (miRNAs), metabolites, and proteins in a single test is required to assess disease status in a precise way...
December 2016: Current Colorectal Cancer Reports
https://www.readbyqxmd.com/read/28621409/hefzibah-eyal-giladi-1925-2017-over-fifty-years-of-embryological-research-in-israel
#5
Oded Khaner
Hefzibah Eyal-Giladi was a creative and innovative pioneering scientist in the creation of the field of early chick embryo development. She had a sharp thinking and enthusiastic attitude, which enabled her to make a deep impression that was highly valued by the general scientific community. Notably, she was a highly successful female researcher in an era which was dominated by male scientists. Her unique personality and keen intellect enabled her to break these borders in a most successful manner. The experiments conducted by her personally, her students and her collaborators served to provide the basic knowledge and paradigms for future scientists in the field, also paving the way for discoveries in other vertebrate model systems...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28619524/molecular-determinants-of-radiosensitivity-in-normal-and-tumor-tissue-a-bioinformatic-approach
#6
Athanasia Pavlopoulou, Pantelis Bagos, Vasiliki Koutsandrea, Alexandros G Georgakilas
Although radiation therapy is a treatment of choice for cancer, a high percentage of patients develop adverse effects in normal tissue following radiotherapy, mainly, due to genetic factors. Notably, although it is established that a lower dose of ionizing radiation can minimize the tumor cell population in radiosensitive cancer patients, the sensitivity of tumor cells to radiation has not gained enough attention. In this mini-review, the molecular pathways/mechanisms and the related molecules involved in clinically relevant radiotoxicity, as well as normal and tumor cell radiosensitivity, were investigated for various types of cancers employing bioinformatics approaches...
June 12, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28615365/a-decade-of-gwas-results-in-lung-cancer
#7
Yohan Bossé, Christopher I Amos
Genome-wide association studies (GWAS) were successful to identify genetic factors robustly associated with lung cancer. This review aims to synthesize the literature in this field and accelerate the translation of GWAS discoveries into results that are closer to clinical applications. A chronological presentation of published GWAS on lung cancer susceptibility, survival and response to treatment is presented. The most important results are tabulated to provide a concise overview in one read. GWAS have reported 45 lung cancer susceptibility loci with varying strength of evidence and highlighted suspected causal genes at each locus...
June 14, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28612750/genetic-and-epigenetic-profile-of-patients-with-alcoholic-liver-disease
#8
Luigi Boccuto, Ludovico Abenavoli
Alcoholic liver disease (ALD) is a definition encompassing a spectrum of disorders ranging from simple steatosis to cirrhosis and hepatocellular carcinoma. Excessive alcohol consumption triggers a series of metabolic reactions that affect the liver by inducing lipogenesis, increasing oxidative stress, and causing abnormal inflammatory responses. The metabolic pathways regulating lipids, reactive oxygen species (ROS), and immune system are closely related and in some cases cross-regulate each other. Therefore, it must be taken into account that major genetic and epigenetic abnormalities affecting enzymes involved in one of such pathways can play a pivotal role in ALD pathogenesis...
August 1, 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28612220/individual-outcome-prediction-for-myelodysplastic-syndrome-mds-and-secondary-acute-myeloid-leukemia-from-mds-after-allogeneic-hematopoietic-cell-transplantation
#9
Michael Heuser, Razif Gabdoulline, Patrick Löffeld, Vera Dobbernack, Henriette Kreimeyer, Mira Pankratz, Madita Flintrop, Alessandro Liebich, Sabrina Klesse, Victoria Panagiota, Michael Stadler, Martin Wichmann, Rabia Shahswar, Uwe Platzbecker, Christian Thiede, Thomas Schroeder, Guido Kobbe, Robert Geffers, Brigitte Schlegelberger, Gudrun Göhring, Hans-Heinrich Kreipe, Ulrich Germing, Arnold Ganser, Nicolaus Kröger, Christian Koenecke, Felicitas Thol
We integrated molecular data with available prognostic factors in patients undergoing allogeneic hematopoietic cell transplantation (alloHCT) for myelodysplastic syndrome (MDS) or secondary acute myeloid leukemia (sAML) from MDS to evaluate their impact on prognosis. Three hundred four patients were sequenced for mutations in 54 genes. We used a Cox multivariate model and competing risk analysis with internal and cross validation to identify factors prognostic of overall survival (OS), cumulative incidence of relapse (CIR), and non-relapse mortality (NRM)...
June 13, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28611656/dissecting-the-molecular-mechanisms-of-neurodegenerative-diseases-through-network-biology
#10
Jose A Santiago, Virginie Bottero, Judith A Potashkin
Neurodegenerative diseases are rarely caused by a mutation in a single gene but rather influenced by a combination of genetic, epigenetic and environmental factors. Emerging high-throughput technologies such as RNA sequencing have been instrumental in deciphering the molecular landscape of neurodegenerative diseases, however, the interpretation of such large amounts of data remains a challenge. Network biology has become a powerful platform to integrate multiple omics data to comprehensively explore the molecular networks in the context of health and disease...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28608853/genetic-tests-in-major-psychiatric-disorders-integrating-molecular-medicine-with-clinical-psychiatry-why-is-it-so-difficult
#11
REVIEW
U Demkow, T Wolańczyk
With the advent of post-genomic era, new technologies create extraordinary possibilities for diagnostics and personalized therapy, transforming todays' medicine. Rooted in both medical genetics and clinical psychiatry, the paper is designed as an integrated source of information of the current and potential future application of emerging genomic technologies as diagnostic tools in psychiatry, moving beyond the classical concept of patient approach. Selected approaches are presented, starting from currently used technologies (next-generation sequencing (NGS) and microarrays), followed by newer options (reverse phenotyping)...
June 13, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28600337/high-throughput-sequencing-for-noninvasive-disease-detection-in-hematologic-malignancies
#12
Florian Scherer, David M Kurtz, Maximilian Diehn, Ash A Alizadeh
Noninvasive monitoring of minimal residual disease (MRD) has led to significant advances in personalized management of patients with hematologic malignancies. Improved therapeutic options and prolonged survival have further increased the need for sensitive tumor assessment that can inform treatment decisions and patient outcomes. At diagnosis or relapse of most hematologic neoplasms, malignant cells are often easily accessible in the blood as circulating tumor cells (CTCs), making them ideal targets to noninvasively profile the molecular features of each patient...
June 9, 2017: Blood
https://www.readbyqxmd.com/read/28600216/molecular-epidemiology-and-antibiotic-resistance-of-methicillin-resistant-staphylococcus-aureus-circulating-in-the-russian-federation
#13
Vladimir Gostev, Alexander Kruglov, Olga Kalinogorskaya, Olga Dmitrenko, Olga Khokhlova, Tatsuo Yamamoto, Yuri Lobzin, Irina Ryabchenko, Sergey Sidorenko
The aim of this study was to investigate the patterns of antimicrobial resistance and molecular features of methicillin-resistant Staphylococcus aureus (MRSA) isolates in Russia. Isolates recovered from hospital patients (n=480), healthy medical personnel (n=25), and healthy carriers (n=13) were included in the study. Hospital-acquired MRSA (HA-MRSA) demonstrated high resistance to ciprofloxacin, gentamicin, and chloramphenicol (76%-92%), moderate - to tetracycline, erythromycin, clindamycin, and rifampicin (38%-54%), and low - to fusidic acid, co-trimoxazole, mupirocin, and daptomycin (2%-7%)...
June 7, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28597929/next-generation-sequencing-of-oncogenes-and-tumor-suppressor-genes-in-odontogenic-myxomas
#14
Jean Nunes Dos Santos, Ernesto Santos Sousa Neto, Josiane Alves França, Marina Gonçalves Diniz, Rennan Garcias Moreira, Wagner Henriques Castro, Ricardo Santiago Gomez, Silvia Ferreira de Sousa, Carolina Cavalieri Gomes
BACKGROUND: Mutations previously considered drivers of malignant neoplasms also occur in benign tumors. From the biological perspective, the study of malignant and benign neoplasms is equally relevant. The study of rare tumors contributes to the understanding of the more common ones, as both could share the same hallmark genetic drivers. The identification of driver mutations in benign tumors is facilitated by the fact that they harbor quiet genomes. Pathogenic mutations have being described in benign epithelial odontogenic tumors, such as ameloblastomas and adenomatoid odontogenic tumors...
June 8, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28593578/induced-pluripotent-stem-cell-based-modeling-of-neurodegenerative-diseases-a-focus-on-autophagy
#15
REVIEW
Johannes Jungverdorben, Andreas Till, Oliver Brüstle
The advent of cell reprogramming has enabled the generation of induced pluripotent stem cells (iPSCs) from patient skin fibroblasts or blood cells and their subsequent differentiation into tissue-specific cells, including neurons and glia. This approach can be used to recapitulate disease-specific phenotypes in classical cell culture paradigms and thus represents an invaluable asset for disease modeling and drug validation in the framework of personalized medicine. The autophagy pathway is a ubiquitous eukaryotic degradation and recycling system, which relies on lysosomal degradation of unwanted and potentially cytotoxic components...
June 7, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28591094/non-clear-cell-renal-cell-carcinomas-biological-insights-and-therapeutic-challenges-and-opportunities
#16
Gabriel G Malouf, Richard W Joseph, Amishi Y Shah, Nizar M Tannir
The non-clear cell renal cell carcinomas (nccRCCs) are a diverse group of rare-variant renal carcinomas. Each subtype harbors a distinct cell of origin and exhibits a distinct clinical behavior and response to therapy. The advent of next-generation sequencing has drastically advanced our understanding of key genetic and epigenetic drivers in these tumors, although mechanistic studies are needed to elucidate pathogenesis. The only 2 randomized clinical trials in nccRCC included patients with diverse histologic subtypes...
May 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/28583311/next-generation-sequencing-of-nonmuscle-invasive-bladder-cancer-reveals-potential-biomarkers-and-rational-therapeutic-targets
#17
Eugene J Pietzak, Aditya Bagrodia, Eugene K Cha, Esther N Drill, Gopa Iyer, Sumit Isharwal, Irina Ostrovnaya, Priscilla Baez, Qiang Li, Michael F Berger, Ahmet Zehir, Nikolaus Schultz, Jonathan E Rosenberg, Dean F Bajorin, Guido Dalbagni, Hikmat Al-Ahmadie, David B Solit, Bernard H Bochner
BACKGROUND: Molecular characterization of nonmuscle invasive bladder cancer (NMIBC) may provide a biologic rationale for treatment response and novel therapeutic strategies. OBJECTIVE: To identify genetic alterations with potential clinical implications in NMIBC. DESIGN, SETTING, AND PARTICIPANTS: Pretreatment index tumors and matched germline DNA from 105 patients with NMIBC on a prospective Institutional Review Board-approved protocol underwent targeted exon sequencing analysis in a Clinical Laboratory Improvement Amendments-certified clinical laboratory...
June 2, 2017: European Urology
https://www.readbyqxmd.com/read/28576415/stem-cell-contributions-to-neurological-disease-modeling-and-personalized-medicine
#18
REVIEW
Nicholas Liang, Cleber A Trujillo, Priscilla D Negraes, Alysson R Muotri, Claudiana Lameu, Henning Ulrich
Human induced pluripotent stem cells (iPSCs) represent a revolutionary tool for disease modeling and drug discovery. The generation of tissue-relevant cell types exhibiting a patient's genetic and molecular background offers the ability to develop individual and effective therapies. In this review, we present some major achievements in the neuroscience field using iPSCs and discuss promising perspectives in personalized medicine. In addition to disease modeling, the understanding of the cellular and molecular basis of neurological disorders is explored, including the discovery of new targets and potential drugs...
May 30, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28573494/a-novel-tp53-germline-inframe-deletion-identified-in-a-spanish-series-of-li-fraumeni-syndrome-suspected-families
#19
Patricia Llovet, Francisco J Illana, Lorena Martín-Morales, Miguel de la Hoya, Pilar Garre, M Dolores Ibañez-Royo, Pedro Pérez-Segura, Trinidad Caldés, Vanesa García-Barberán
Li-Fraumeni syndrome (LFS) is an autosomal dominant, inherited tumor predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. The molecular diagnosis of LFS is important to develop strategies for early detection and access to the genetic counseling. Our study evaluated germline TP53 mutations in Spanish families with a history suggestive of LFS. Germline TP53 alterations in 22 families with a history suggestive of LFS were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification...
June 1, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28573413/-molecular-biomarkers-and-prognostic-factors-for-prostate-cancer
#20
A Kretschmer, Y Tolkach, J Ellinger, G Kristiansen
In the era of personalized medicine and precision oncology, innovative genetic biomarkers are of emerging interest to close the diagnostic and prognostic gap that is left by current clinicopathologic risk classifiers. The current review article summarizes evidence regarding prognostic and predictive genetic biomarkers that are currently in widespread clinical use at initial diagnosis as well as following definitive treatment of prostate cancer. We give a brief summary about basic principles of biomarker research studies and present current data for the Progensa PC3 test, TMPRSS2:ERG gene fusion, ConfirmMDx, Prolaris gene panel, OncotypeDX Genomic Prostate score, and Decipher classifier...
June 1, 2017: Der Urologe. Ausg. A
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