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Molecular genetic personality

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https://www.readbyqxmd.com/read/29777021/serum-6-bromotryptophan-levels-identified-as-a-risk-factor-for-ckd-progression
#1
Adrienne Tin, Girish Nadkarni, Anne M Evans, Cheryl A Winkler, Erwin Bottinger, Casey M Rebholz, Mark J Sarnak, Lesley A Inker, Andrew S Levey, Michael S Lipkowitz, Lawrence J Appel, Dan E Arking, Josef Coresh, Morgan E Grams
Background Metabolite levels reflect physiologic homeostasis and may serve as biomarkers of disease progression. Identifying metabolites associated with APOL1 risk alleles-genetic variants associated with CKD risk commonly present in persons of African descent-may reveal novel markers of CKD progression relevant to other populations. Methods We evaluated associations between the number of APOL1 risk alleles and 760 serum metabolites identified via untargeted profiling in participants of the African American Study of Kidney Disease and Hypertension (AASK) ( n =588; Bonferroni significance threshold P <6...
May 18, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29776637/an-update-regarding-the-molecular-genetics-of-melanocytic-neoplasms-and-the-current-applications-of-molecular-genetic-technologies-in-their-diagnosis-and-treatment
#2
REVIEW
Katrin Kiavash, Martin H Bluth, Andrew David Thompson
Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29776628/molecular-pathology-techniques-advances-in-2018
#3
REVIEW
Mark J Bluth, Martin H Bluth
Molecular pathology techniques continue to evolve. Although polymerase chain reaction (PCR) remains the cornerstone methodology for nucleic acid amplification, improvements in nucleic acid detection methodologies (i.e. PCR) have increased the detection sensitivity by using fluorescent and bead based array technologies. Single base pair lesions can be detected via sequencing and related techniques to discern point mutations in disease pathogenesis. Novel technologies, such as high- resolution melting analysis, provide fast high throughput post PCR analysis of genetic mutations or variance in nucleic acid sequences...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29775752/the-genetics-and-molecular-pathogenesis-of-systemic-lupus-erythematosus-sle-in-populations-of-different-ancestry
#4
REVIEW
George N Goulielmos, Maria I Zervou, Vassilis M Vazgiourakis, Yogita Ghodke-Puranik, Alexandros Garyfallos, Timothy B Niewold
Systemic lupus erythematosus (SLE; OMIM 152700) is a highly heterogeneous disorder, characterized by differences in autoantibody profile, serum cytokines, and a multi-system involvement commonly affecting the skin, renal, musculoskeletal, and hematopoetic systems clinical manifestations involving. Disease features range from mild manifestations, such as rash or arthritis, to life-threatening end-organ manifestations, such as glomerulonephritis or thrombosis, and it is difficult to predict which manifestations will affect a given patient...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29762727/development-of-targeted-therapy-and-immunotherapy-for-treatment-of-small-cell-lung-cancer
#5
Motonobu Saito, Kouya Shiraishi, Akiteru Goto, Hiroyuki Suzuki, Takashi Kohno, Koji Kono
Targeted therapy against druggable genetic aberrations has shown a significantly positive response rate and longer survival in various cancers, including lung cancer. In lung adenocarcinoma (LADC), specific thyroxin kinase inhibitors against EGFR mutations and ALK fusions are used as a standard treatment regimen and show significant positive efficacy. On the other hand, targeted therapy against driver gene aberrations has not been adapted yet in small cell lung cancer (SCLC). This is because driver genes and druggable aberrations are rarely identified by next generation sequencing in SCLC...
May 14, 2018: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29756285/evolution-of-a-rapid-onsite-evaluation-rose-service-for-endobronchial-ultrasound-guided-ebus-fine-needle-aspiration-fna-cytology-in-a-uk-hospital-a-7-year-audit
#6
Tracey Stevenson, Manish Powari, Christopher Bowles
OBJECTIVE: Endobronchial ultrasound fine needle aspiration (EBUS FNA) is a well-established procedure for the diagnosis and staging of lung cancer. We review our provision of this service at the Royal Devon and Exeter NHS Foundation Trust and the role of rapid onsite evaluation (ROSE) with the increasing demand for molecular markers in this era of personalized medicine. METHODS: A review of the changes in the Endoscopy clinic over the 7 years from the introduction of EBUS at the end of 2010 until 2017 was carried out...
May 13, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29754704/genetic-advances-in-post-traumatic-stress-disorder
#7
Hernan Felipe Guillén-Burgos, Karol Gutiérrez-Ruiz
Post-traumatic stress disorder, or PTSD, is a condition that affects a subgroup of individuals that have suffered a previous traumatic event capable of generating changes at a psychological and behavioural level. These changes affect the personal, family, and social environment of those who suffer from this condition. Different genes have been identified as risk markers for development of this disorder. The population heterogeneity and individual differences (genetic and environmental) of each subject have made it difficult to identify valid markers in previous studies...
April 2018: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29752830/associations-between-loneliness-and-personality-are-mostly-driven-by-a-genetic-association-with-neuroticism
#8
Abdel Abdellaoui, Hsi-Yuan Chen, Gonneke Willemsen, Erik A Ehli, Gareth E Davies, Karin J H Verweij, Michel G Nivard, Eco J C de Geus, Dorret I Boomsma, John T Cacioppo
OBJECTIVE: Loneliness is an aversive response to a discrepancy between desired and actual social relationships and correlates with personality. We investigate the relationship of loneliness and personality in twin-family and molecular genetic data. METHOD: Phenotypic correlations between loneliness and the Big Five personality traits were estimated in 29,625 adults, and in a group with genome-wide genotype data (N=4,222), genetic correlations were obtained. We explored whether genetic correlations may reflect causal relationships by investigating within monozygotic twin-pair differences (Npairs =2,662), by longitudinal within-subject changes in personality and loneliness (N=4,260-9,238 longitudinal comparisons), and by longitudinal cross-lagged panel analyses (N=15,628)...
May 12, 2018: Journal of Personality
https://www.readbyqxmd.com/read/29750581/cftr-dysfunction-in-cystic-fibrosis-and-chronic-obstructive-pulmonary-disease
#9
Elena Fernandez Fernandez, Chiara de Santi, Virginia De Rose, Catherine M Greene
Obstructive lung diseases such as cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) are causes of high morbidity and mortality worldwide. CF is a multiorgan genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is characterized by progressive chronic obstructive lung disease. Most cases of COPD are a result of noxious particles, mainly cigarette smoke but also other environmental pollutants. Areas covered: Although the pathogenesis and pathophysiology of CF and COPD differ, they do share key phenotypic features and because of these similarities there is great interest in exploring common mechanisms and/or factors affected by CFTR mutations and environmental insults involved in COPD...
May 11, 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29749379/clinically-relevant-mutations-in-the-abcg2-transporter-uncovered-by-genetic-analysis-linked-to-erythrocyte-membrane-protein-expression
#10
Boglárka Zámbó, Zsuzsa Bartos, Orsolya Mózner, Edit Szabó, György Várady, Gyula Poór, Márton Pálinkás, Hajnalka Andrikovics, Tamás Hegedűs, László Homolya, Balázs Sarkadi
The ABCG2 membrane protein is a key xeno- and endobiotic transporter, modulating the absorption and metabolism of pharmacological agents and causing multidrug resistance in cancer. ABCG2 is also involved in uric acid elimination and its impaired function is causative in gout. Analysis of ABCG2 expression in the erythrocyte membranes of healthy volunteers and gout patients showed an enrichment of lower expression levels in the patients. By genetic screening based on protein expression, we found a relatively frequent, novel ABCG2 mutation (ABCG2-M71V), which, according to cellular expression studies, causes reduced protein expression, although with preserved transporter capability...
May 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29746646/corticostriatal-connectivity-in-antisocial-personality-disorder-by-mao-a-genotype-and-its-relationship-to-aggressive-behavior
#11
Nathan J Kolla, Katharine Dunlop, Jeffrey H Meyer, Jonathan Downar
Background: The influence of genetic variation on resting-state neural networks represents a burgeoning line of inquiry in psychiatric research. Monoamine oxidase A, an X-linked gene, is one example of a molecular target linked to brain activity in psychiatric illness. Monoamine oxidase A genetic variants, including the high and low variable nucleotide tandem repeat polymorphisms, have been shown to differentially affect brain functional connectivity in healthy humans. However, it is currently unknown whether these same polymorphisms influence resting-state brain activity in clinical conditions...
May 9, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29745066/site-specific-use-of-molecular-markers-could-be-a-promising-prognostic-tool-in-colorectal-cancer
#12
Petros Papagiorgis, Adamantia Zizi-Sermbetzoglou, Dimitrios Chaniotis, Nikolaos Thalassinos, Paraskevi Tziakou
Proximal and distal colorectal carcinomas (CRCs) are generally considered as genetically and clinicopathologically distinct disease entities. Tumor location has been proposed as an additional prognostic indicator and -more recently- as a factor with significant influence on the prognostic value of particular molecular markers and/or combination of markers (KRAS, MSI, APC/MSI), allowing the discrimination of specific disease subsets with considerably disparate outcome and the identification of high risk cases...
March 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29742881/medulloblastoma-in-the-molecular-era
#13
REVIEW
Claudia Miranda Kuzan-Fischer, Kyle Juraschka, Michael D Taylor
Medulloblastoma is the most common malignant brain tumor of childhood and remains a major cause of cancer related mortality in children. Significant scientific advancements have transformed the understanding of medulloblastoma, leading to the recognition of four distinct clinical and molecular subgroups, namely wingless (WNT), sonic hedgehog, group 3, and group 4. Subgroup classification combined with the recognition of subgroup specific molecular alterations has also led to major changes in risk stratification of medulloblastoma patients and these changes have begun to alter clinical trial design, in which the newly recognized subgroups are being incorporated as individualized treatment arms...
May 2018: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/29739092/satb2-associated-syndrome-a-case-report-of-a-de-novo-nonsense-mutation-in-satb2-from-china-and-review-of-literature
#14
Hong-Yan Lv, Rui-Jiang Zheng, Qiu-Li Wang, Peng-Shun Ren, Lin-Hong Jin, Xiu-Ling Gu, Lian-Xiang Li
BACKGROUND: To study the clinical and genetic features from a Chinese child with SATB2-associated syndrome (SAS) and review of literature. METHODS: The girl, 2 years 3 months old, is admitted to the Department of Pediatric Rehabilitation in our hospital. This patient has mental retardation, language development disorder, cleft palate II0, micrognathia, malocclusion, irritability and bilateral oblique palpebral fissure as a clinical manifestation and is treated for 3 months...
April 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29727668/chemistry-takes-center-stage-for-identifying-cancer-targetability
#15
Christopher G Parker, Benjamin F Cravatt
Matching genetically defined cancer states to drugs that specifically target these states is a principal goal of personalized oncology medicine. In this issue, McMillan et al. show how large-scale chemical screening coupled to deep molecular profiling can identify mechanistically diverse druggable vulnerabilities for genetic subtypes of lung cancers.
May 3, 2018: Cell
https://www.readbyqxmd.com/read/29727353/role-of-survivin-and-p53-expression-in-response-of-primary-culture-of-ovarian-cancer-cells-to-treatment-with-chemotherapeutic-agents
#16
Diwesh Chawla, Rajarshi Kar, Bindiya Gupta, Sumita Halder, Seema Garg, Mohit Mehndiratta, Neelam Wadhwa, Rachna Agarwal
BACKGROUND: Ovarian cancer is associated with a high relapse rate and is the fifth leading cause of cancer deaths in women. The genetic profile of a tumor is responsible for deciding response to chemotherapeutic agents. In this study, we investigate the relation between survivin and p53 expression and response to chemotherapeutic agents of primary cultures of ovarian cancer cells established from ascitic fluid. MATERIALS AND METHOD: Ascitic fluid and Dulbecco's modified Eagle medium was mixed in equal proportion in culture flasks and incubated to establish primary culture...
April 30, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29723168/malaria-surveillance-united-states-2015
#17
Kimberly E Mace, Paul M Arguin, Kathrine R Tan
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 species 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 4, 2018: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/29723145/-methods-for-determining-of-cytochrome-p450-isozymes-functional-activity
#18
REVIEW
A V Kuzikov, R A Masamrekh, A I Archakov, V V Shumyantseva
The review is dedicated to modern methods and technologies for determining of cytochrome P450 isozymes functional activity, such as absorbance and fluorescent spectroscopy, electron paramagnetic resonance (EPR), nuclear magnetic resonance (NMR), Raman, Mossbauer, and X-ray spectroscopy, surface plasmon resonance (SPR), atomic force microscopy (AFM). Methods of molecular genetic analysis were reviewed from personalized medicine point of view. The use of chromate-mass-spectrometric methods for cytochrome P450-dependent catalytic reactions' products was discussed...
March 2018: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/29719593/whole-exome-sequencing-identifies-mtor-and-keap1-as-potential-targets-for-radiosensitization-of-hnscc-cells-refractory-to-egfr-and-%C3%AE-1-integrin-inhibition
#19
Erik Klapproth, Ellen Dickreuter, Falk Zakrzewski, Michael Seifert, Andreas Petzold, Andreas Dahl, Evelin Schröck, Barbara Klink, Nils Cordes
Intrinsic and acquired resistances are major obstacles in cancer therapy. Genetic characterization is commonly used to identify predictive or prognostic biomarker signatures and potential cancer targets in samples from therapy-naïve patients. By far less common are such investigations to identify specific, predictive and/or prognostic gene signatures in patients or cancer cells refractory to a specific molecular-targeted intervention. This, however, might have a great value to foster the development of tailored, personalized cancer therapy...
April 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29718126/relapse-pathway-of-glioblastoma-revealed-by-single-cell-molecular-analysis
#20
Xuelian Chen, Qin Wen, Andres Stucky, Yunjing Zeng, Shengjia Gao, William G Loudon, Hector W Ho, Mustafa H Kabeer, Shengwen Calvin Li, Xi Zhang, Jiang F Zhong
Glioblastoma multiforme (GBM) remains an incurable brain tumor. The highly malignant behavior of GBM may, in part, be attributed to its intraclonal genetic and phenotypic diversity (subclonal evolution). Identifying the molecular pathways driving GBM relapse may provide novel, actionable targets for personalized diagnosis, characterization of prognosis and improvement of precision therapy. We screened single-cell transcriptomes, namely RNA-seq data of primary and relapsed GBM tumors from a patient, to define the molecular profile of relapse...
April 28, 2018: Carcinogenesis
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