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Molecular genetic personality

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https://www.readbyqxmd.com/read/28548882/finding-conducting-and-nurturing-science-a-virologist-s-memoir
#1
Anna Marie Ann Skalka Skalka
My laboratory investigations have been driven by an abiding interest in understanding the consequences of genetic rearrangement in evolution and disease, and in using viruses to elucidate fundamental mechanisms in biology. Starting with bacteriophages and moving to the retroviruses, my use of the tools of genetics, molecular biology, biochemistry, and biophysics has spanned more than half a century-from the time when DNA structure was just discovered to the present day of big data and epigenetics. Both riding and contributing to the successive waves of technology, my laboratory has elucidated fundamental mechanisms in DNA replication, repair, and recombination...
May 26, 2017: Annual Review of Virology
https://www.readbyqxmd.com/read/28542927/research-review-what-do-we-know-about-psychopathic-traits-in-children
#2
Randall T Salekin
BACKGROUND: Research on the topic of child psychopathy has advanced over the past decade increasing what we know. METHOD: This qualitative review examines the research base for child psychopathy and emphasizes its three dimensions: grandiose-manipulative, callous-unemotional, and daring-impulsive. Literature is reviewed addressing the cognitive, emotional, motivational, personality, parenting, and biological correlates. RESULTS: Support has emerged for the phenotypic construct of child psychopathy, while questions remain regarding definitional issues and key external correlates (e...
May 24, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28542123/malaria-surveillance-united-states-2014
#3
Kimberly E Mace, Paul M Arguin
PROBLEM/CONDITION: Malaria in humans is caused by intraerythrocytic protozoa of the genus Plasmodium. These parasites are transmitted by the bite of an infective female Anopheles mosquito. The majority of malaria infections in the United States occur among persons who have traveled to regions with ongoing malaria transmission. However, malaria is occasionally acquired by persons who have not traveled out of the country through exposure to infected blood products, congenital transmission, laboratory exposure, or local mosquitoborne transmission...
May 26, 2017: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/28533738/genetics-of-tinnitus-still-in-its-infancy
#4
REVIEW
Barbara Vona, Indrajit Nanda, Wafaa Shehata-Dieler, Thomas Haaf
Tinnitus is the perception of a phantom sound that affects between 10 and 15% of the general population. Despite this considerable prevalence, treatments for tinnitus are presently lacking. Tinnitus exhibits a diverse array of recognized risk factors and extreme clinical heterogeneity. Furthermore, it can involve an unknown number of auditory and non-auditory networks and molecular pathways. This complex combination has hampered advancements in the field. The identification of specific genetic factors has been at the forefront of several research investigations in the past decade...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28532586/the-role-of-genetics-in-primary-ventricular-fibrillation-inherited-channelopathies-and-cardiomyopathies
#5
Lia Crotti, Maria-Christina Kotta
Sudden cardiac death (SCD) has a strong familial component; however, our understanding of its genetic basis varies significantly according to the underlying causes. When coronary artery disease is involved, the predisposing genetic background is complex and despite some interesting findings it remains largely unknown. Quite different is the case of monogenic structural and non-structural heart diseases, in which a number of disease-causing genes have been established and are being used in clinical practice...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28529006/validation-of-a-next-generation-sequencing-pipeline-for-the-molecular-diagnosis-of-multiple-inherited-cancer-predisposing-syndromes
#6
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R Teixeira
Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer...
May 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28524624/pulmonary-arterial-hypertension-progress-in-understanding-the-disease-and-prioritizing-strategies-for-drug-development
#7
REVIEW
P Ghataorhe, C J Rhodes, L Harbaum, M Attard, J Wharton, M R Wilkins
Pulmonary arterial hypertension (PAH), at one time a largely overlooked disease, is now the subject of intense study in many academic and biotech groups. The availability of new treatments has increased awareness of the condition. This in turn has driven a change in the demographics of PAH, with an increase in the mean age at diagnosis. The diagnosis of PAH in more elderly patients has highlighted the need for careful phenotyping of patients and for further studies to understand how best to manage pulmonary hypertension associated with, for example, left heart disease...
May 19, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28522145/wnt-signaling-a-novel-pathway-regulating-blood-pressure-state-of-the-art-review
#8
REVIEW
Maen D Abou Ziki, Arya Mani
Recent antihypertensive trials show conflicting results on blood pressure (BP) targets in patient populations with different metabolic profiles, with lowest benefit from tight BP control observed in patients with type 2 diabetes mellitus. This paradox could arise from the heterogeneity of study populations and underscores the importance of precision medicine initiatives towards understanding and treating hypertension. Wnt signaling pathways and genetic variations in its signaling peptides have been recently associated with metabolic syndrome, hypertension and diabetes, generating a breakthrough for advancement of precision medicine in the field of hypertension...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28517991/self-knowledge-and-risk-in-stratified-medicine
#9
Joshua Hordern
This article considers why and how self-knowledge is important to communication about risk and behaviour change by arguing for four claims. First, it is doubtful that genetic knowledge should properly be called 'self-knowledge' when its ordinary effects on self-motivation and behaviour change seem so slight. Second, temptations towards a reductionist, fatalist, construal of persons' futures through a 'molecular optic' should be resisted. Third, any plausible effort to change people's behaviour must engage with cultural self-knowledge, values and beliefs, catalysed by the communication of genetic risk...
April 2017: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28514312/treatment-inferred-from-mutations-identified-using-massive-parallel-sequencing-leads-to-clinical-benefit-in-some-heavily-pretreated-cancer-patients
#10
Aviad Zick, Tamar Peretz, Michal Lotem, Ayala Hubert, Daniela Katz, Mark Temper, Yakir Rottenberg, Beatrice Uziely, Hovav Nechushtan, Amichai Meirovitz, Amir Sonnenblick, Eli Sapir, David Edelman, Yael Goldberg, Alexander Lossos, Shai Rosenberg, Iris Fried, Ruth Finklstein, Eli Pikarsky, Hanoch Goldshmidt
Molecular portraits of numerous tumors have flooded oncologists with vast amounts of data. In parallel, effective inhibitors of central pathways have shown great clinical benefit. Together, this promises potential clinical benefits to otherwise end-stage cancer patients. Here, we report a clinical service offering mutation detection of archived samples using the ion Ampliseq cancer panel coupled with clinical consultation.A multidisciplinary think tank consisting of oncologists, molecular-biologists, genetic counselors, and pathologists discussed 67 heavily pretreated, advanced cancer patient cases, taking into account mutations identified using ion Ampliseq cancer panel, medical history, and relevant literature...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28500375/first-molecular-identification-and-genetic-diversity-of-strongyloides-stercoralis-and-strongyloides-fuelleborni-in-human-communities-having-contact-with-long-tailed-macaques-in-thailand
#11
Tongjit Thanchomnang, Pewpan M Intapan, Oranuch Sanpool, Rutchanee Rodpai, Somjintana Tourtip, Sujitra Yahom, Jitsuda Kullawat, Prayong Radomyos, Chalida Thammasiri, Wanchai Maleewong
The parasitic nematodes, Strongyloides stercoralis and Strongyloides fuelleborni, can infect humans and non-human primates. We amplified and sequenced a portion of the 18S ribosomal RNA gene (rRNA) and of the mitochondrial cytochrome c oxidase subunit 1 (cox1) gene of Strongyloides from humans in the study area in Thailand, where people have frequent contact with long-tailed macaques. Fresh stool samples were obtained from 213 people and were examined using the agar plate culture method. The overall prevalence of Strongyloides infection was 8...
May 12, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28492130/osteogenesis-imperfecta-type-3-in-south-africa-causative-mutations-in-fkbp10
#12
Alvera Vorster, Peter Beighton, Manogari Chetty, Yasmeen Ganie, Bertram Henderson, Engela Honey, Piet Maré, David Thompson, Karen Fieggen, Denis Viljoen, Rajkumar Ramesar
BACKGROUND: A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment. OBJECTIVE: To delineate the molecular basis for the condition. METHODS: Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic groups in this population...
April 25, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28490630/understanding-phospholipid-function-why-are-there-so-many-lipids
#13
William Dowhan
In the 1970's phospholipids were still considered mere building blocks of the membrane lipid bilayer, but the subsequent realization that phospholipids could also serve as second messengers brought new interest to the field. My own passion for the unique amphipathic properties of lipids led me to seek other, non-signaling functions for phospholipids, particularly in their interactions with membrane proteins. This seemed the last frontier in protein chemistry and enzymology to be conquered. I was fortunate to find my way to Eugene Kennedy's laboratory where both membrane proteins and phospholipids were foci of study thus providing a jumping-off point for advancing our fundamental understanding of lipid synthesis, membrane protein biosynthesis, phospholipid and membrane protein trafficking and the cellular roles of phospholipids...
May 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28484312/genetic-diagnosis-as-a-tool-for-personalized-treatment-of-duchenne-muscular-dystrophy
#14
REVIEW
Luca Bello, Elena Pegoraro
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484264/the-role-of-lnk-sh2b3-genetic-alterations-in-myeloproliferative-neoplasms-and-other-hematological-disorders
#15
REVIEW
N Maslah, B Cassinat, E Verger, J-J Kiladjian, L Velazquez
Malignant hematological diseases are mainly due to the occurrence of molecular abnormalities leading to the deregulation of signaling pathways essential for precise cell behavior. High resolution genome analysis using microarray and large-scale sequencing have helped identify several important acquired gene mutations that are responsible for such signaling deregulations across different hematological malignancies. In particular, the genetic landscape of classical myeloproliferative neoplasms (MPNs) has been in large part completed with the identification of driver mutations (targeting the cytokine receptor/JAK2 pathway) that determine MPN phenotype, as well as additional mutations mainly affecting the regulation of gene expression (epigenetics or splicing regulators) and signaling...
May 9, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28477422/prostate-cancer-molecular-profiling-the-achilles-heel-for-the-implementation-of-precision-medicine
#16
REVIEW
Eliane Gouvêa Oliveira-Barros, Pedro Nicolau-Neto, Nathalia Meireles Da Costa, Luís Felipe Ribeiro Pinto, Antonio Palumbo, Luiz Eurico Nasciutti
Cancer has been mainly treated by traditional therapeutic approaches which do not consider the human genetic diversity and present limitations, probably as a consequence of a poor knowledge of both patient's genetic background and tumor biology. Due to genome project conclusion and large-scale gene analyses emergence, the therapeutic management of several prevalent and aggressive tumors has dramatically improved and represents the closest examples of a precision medicine intervention in this field. Nonetheless, prostate cancer (PCa) remains as a challenge to personalized medicine implementation, probably due to its notorious heterogeneous molecular profile...
May 6, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28477149/current-and-emerging-applications-of-droplet-digital-pcr-in-oncology
#17
REVIEW
Susana Olmedillas-López, Mariano García-Arranz, Damián García-Olmo
The clinical management of cancer has evolved in recent years towards more personalized strategies that require a comprehensive knowledge of the complex molecular features involved in tumor growth and evolution, and the development of drug resistance mechanisms leading to disease progression. Droplet digital PCR (ddPCR) has become one of the most accurate and reliable tools for the examination of genetic alterations in a wide variety of cancers because of its high sensitivity and specificity. ddPCR is currently being applied for absolute allele quantification, rare mutation detection, analysis of copy number variations, DNA methylation, and gene rearrangements in different kinds of clinical samples...
May 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28472724/relevance-of-molecular-testing-in-patients-with-a-family-history-of-sudden-death
#18
Silke Kauferstein, Nadine Herz, Stefanie Scheiper, Stephanie Biel, Tina Jenewein, Malte Kunis, Damir Erkapic, Britt-Maria Beckmann, Thomas Neumann
Sudden cardiac death (SCD) is a major cause of death in industrial countries. Although SCD occurs mainly in adults, it may also affect young persons, where genetic cardiac disorders comprise at least half of these cases. This includes primary arrhythmogenic disorders such as long QT syndrome and inherited cardiomyopathies. However, in many cases, postmortem examinations provide no conclusive results explaining the cause of death. Since family members of the deceased may eventually have inherited the same disease, they are at risk of SCD...
April 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28472234/comparison-of-breast-cancer-molecular-features-and-survival-by-african-and-european-ancestry-in-the-cancer-genome-atlas
#19
Dezheng Huo, Hai Hu, Suhn K Rhie, Eric R Gamazon, Andrew D Cherniack, Jianfang Liu, Toshio F Yoshimatsu, Jason J Pitt, Katherine A Hoadley, Melissa Troester, Yuanbin Ru, Tara Lichtenberg, Lori A Sturtz, Carl S Shelley, Christopher C Benz, Gordon B Mills, Peter W Laird, Craig D Shriver, Charles M Perou, Olufunmilayo I Olopade
Importance: African Americans have the highest breast cancer mortality rate. Although racial difference in the distribution of intrinsic subtypes of breast cancer is known, it is unclear if there are other inherent genomic differences that contribute to the survival disparities. Objectives: To investigate racial differences in breast cancer molecular features and survival and to estimate the heritability of breast cancer subtypes. Design, Setting, and Participants: Among a convenience cohort of patients with invasive breast cancer, breast tumor and matched normal tissue sample data (as of September 18, 2015) were obtained from The Cancer Genome Atlas...
May 4, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28469108/vascular-calcification-current-genetics-underlying-this-complex-phenomenon
#20
REVIEW
Nonanzit Pérez-Hernández, Gad Aptilon-Duque, Ruben Blachman-Braun, Gilberto Vargas-Alarcón, Adrián Asael Rodríguez-Cortés, Shely Azrad-Daniel, Rosalinda Posadas-Sánchez, José Manuel Rodríguez-Pérez
OBJECTIVE: Vascular calcification is the consequence of the complex interaction between genetic, environmental, and vascular factors, which ultimately lead to the deposition of calcium in the tunica intima (atherosclerotic calcification) or tunica media (Mönckenberg's sclerosis). Vascular calcification is also closely related to other pathologies, such as diabetes mellitus, dyslipidemia, and chronic kidney disease. It has been concluded that the degree of vascular calcification may vary from person to person, even if the associated pathologies and environmental factors are the same...
May 5, 2017: Chinese Medical Journal
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