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Molecular genetic personality

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https://www.readbyqxmd.com/read/29322089/the-wisconsin-registry-for-alzheimer-s-prevention-a-review-of-findings-and-current-directions
#1
REVIEW
Sterling C Johnson, Rebecca L Koscik, Erin M Jonaitis, Lindsay R Clark, Kimberly D Mueller, Sara E Berman, Barbara B Bendlin, Corinne D Engelman, Ozioma C Okonkwo, Kirk J Hogan, Sanjay Asthana, Cynthia M Carlsson, Bruce P Hermann, Mark A Sager
The Wisconsin Registry for Alzheimer's Prevention is a longitudinal observational cohort study enriched with persons with a parental history (PH) of probable Alzheimer's disease (AD) dementia. Since late 2001, Wisconsin Registry for Alzheimer's Prevention has enrolled 1561 people at a mean baseline age of 54 years. Participants return for a second visit 4 years after baseline, and subsequent visits occur every 2 years. Eighty-one percent (1270) of participants remain active in the study at a current mean age of 64 and 9 years of follow-up...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/29321673/genomic-analysis-of-family-data-reveals-additional-genetic-effects-on-intelligence-and-personality
#2
W David Hill, Ruben C Arslan, Charley Xia, Michelle Luciano, Carmen Amador, Pau Navarro, Caroline Hayward, Reka Nagy, David J Porteous, Andrew M McIntosh, Ian J Deary, Chris S Haley, Lars Penke
Pedigree-based analyses of intelligence have reported that genetic differences account for 50-80% of the phenotypic variation. For personality traits these effects are smaller, with 34-48% of the variance being explained by genetic differences. However, molecular genetic studies using unrelated individuals typically report a heritability estimate of around 30% for intelligence and between 0 and 15% for personality variables. Pedigree-based estimates and molecular genetic estimates may differ because current genotyping platforms are poor at tagging causal variants, variants with low minor allele frequency, copy number variants, and structural variants...
January 10, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29296092/evaluation-of-amplification-refractory-mutation-system-arms-technique-for-quick-and-accurate-prenatal-gene-diagnosis-of-chm-variant-in-choroideremia
#3
Lisha Yang, Iqra Ijaz, Jingliang Cheng, Chunli Wei, Xiaojun Tan, Md Asaduzzaman Khan, Xiaodong Fu, Junjiang Fu
Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). Different primer sets for amplification refractory mutation system (ARMS) were designed and PCR conditions were optimized...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29285234/targeted-next-generation-sequencing-in-chinese-colorectal-cancer-patients-guided-anti-egfr-treatment-and-facilitated-precision-cancer-medicine
#4
Helei Hou, Dong Liu, Chuantao Zhang, Yanxia Jiang, Guifang Lu, Na Zhou, Xiaonan Yang, Xiaoping Zhang, Zhuokun Li, Hongmei Zhu, Zhaoyang Qian, Xiaochun Zhang
Objective: Colorectal cancer (CRC) patients with both RAS and BRAF wild-type tumors determined by non-next generation sequencing (NGS) testing may still not respond due to the presence of additional mutated genes such as PIK3CA or PTEN. In this study, a broad, hybrid capture-based NGS assay was used to identify RAS, BRAF and additional targetable genetic alterations from Chinese CRC tissues. Methods: Fifty-seven cases of CRC were enrolled, and all the patients signed the informed consent...
December 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/29276781/recent-progress-in-the-use-and-tracking-of-transplanted-islets-as-a-personalized-treatment-for-type-1-diabetes
#5
Genaro A Paredes-Juarez, Paul de Vos, Jeff W M Bulte
Introduction: Type 1 diabetes mellitus (T1DM) is an autoimmune disease in which the pancreas produces insufficient amounts of insulin. T1DM patients require exogenous sources of insulin to maintain euglycemia. Transplantation of naked or microencapsulated pancreatic islets represents an alternative paradigm to obtain an autonomous regulation of blood glucose levels in a controlled and personalized fashion. However, once transplanted, the fate of these personalized cellular therapeutics is largely unknown, justifying the development of non-invasive tracking techniques...
2017: Expert Review of Precision Medicine and Drug Development
https://www.readbyqxmd.com/read/29276709/tumor-heterogeneity-in-breast-cancer
#6
REVIEW
Gulisa Turashvili, Edi Brogi
Breast cancer is a heterogeneous disease and differs greatly among different patients (intertumor heterogeneity) and even within each individual tumor (intratumor heterogeneity). Clinical and morphologic intertumor heterogeneity is reflected by staging systems and histopathologic classification of breast cancer. Heterogeneity in the expression of established prognostic and predictive biomarkers, hormone receptors, and human epidermal growth factor receptor 2 oncoprotein is the basis for targeted treatment. Molecular classifications are indicators of genetic tumor heterogeneity, which is probed with multigene assays and can lead to improved stratification into low- and high-risk groups for personalized therapy...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/29275244/environmental-arsenic-exposure-from-genetic-susceptibility-to-pathogenesis
#7
REVIEW
Brenda C Minatel, Adam P Sage, Christine Anderson, Roland Hubaux, Erin A Marshall, Wan L Lam, Victor D Martinez
More than 200 million people in 70 countries are exposed to arsenic through drinking water. Chronic exposure to this metalloid has been associated with the onset of many diseases, including cancer. Epidemiological evidence supports its carcinogenic potential, however, detailed molecular mechanisms remain to be elucidated. Despite the global magnitude of this problem, not all individuals face the same risk. Susceptibility to the toxic effects of arsenic is influenced by alterations in genes involved in arsenic metabolism, as well as biological factors, such as age, gender and nutrition...
December 21, 2017: Environment International
https://www.readbyqxmd.com/read/29260745/-molecular-epidemiological-analysis-of-hiv-1-variants-circulating-in-russia-in-1987-2015
#8
I A Lapovok, A E Lopatukhin, D E Kireev, E V Kazennova, A V Lebedev, M R Bobkova, A N Kolomeets, G I Turbina, G A Shipulin, N N Ladnaya, V V Pokrovsky
AIM: To simultaneously analyze HIV-1 samples from all Russian regions to characterize the epidemiology of HIV infection in the country as a whole. SUBJECTS AND METHODS: The most extensive study was conducted to examine nucleotide sequences of the pol gene of HIV-1 samples isolated from HIV-positive persons in different regions of Russia, with the diagnosis date being fixed during 1987-2015. The nucleotide sequences of the HIV-1 genome were analyzed using computer programs and on-line applications to identify a virus subtype and new recombinant forms...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29260344/integrative-network-based-approach-identifies-central-genetic-and-transcriptomic-elements-in-triple-negative-breast-cancer
#9
Ramireddy Sriroopreddy, C Sudandiradoss
Triple-negative breast cancer (TNBC) has gained considerable attention as it oversteps about 15% of the deaths caused by breast cancer in women and is well known for its aggressive impact, high proliferation rate, intensity of tumor, and metastasis. In this study, we have given a new insight into TNBC, by introducing an integrative network methodology to understand the complexity of the candidate genes in TNBC. In the course of this analysis, the central network was constructed by refining the candidate genes present in the various databases...
December 19, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/29259576/obstructive-sleep-apnea-phenotypes-and-markers-of-vascular-disease-a-review
#10
REVIEW
Alberto R Ramos, Pedro Figueredo, Shirin Shafazand, Alejandro D Chediak, Alexandre R Abreu, Salim I Dib, Carlos Torre, Douglas M Wallace
Obstructive sleep apnea (OSA) is a chronic and heterogeneous disorder that leads to early mortality, stroke, and cardiovascular disease (CVD). OSA is defined by the apnea-hypopnea index, which is an index of OSA severity that combines apneas (pauses in breathing) and hypopneas (partial obstructions in breathing) associated with hypoxemia. Yet, other sleep metrics (i.e., oxygen nadir, arousal frequency), along with clinical symptoms and molecular markers could be better predictors of stroke and CVD outcomes in OSA...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29258445/a-biological-network-based-regularized-artificial-neural-network-model-for-robust-phenotype-prediction-from-gene-expression-data
#11
Tianyu Kang, Wei Ding, Luoyan Zhang, Daniel Ziemek, Kourosh Zarringhalam
BACKGROUND: Stratification of patient subpopulations that respond favorably to treatment or experience and adverse reaction is an essential step toward development of new personalized therapies and diagnostics. It is currently feasible to generate omic-scale biological measurements for all patients in a study, providing an opportunity for machine learning models to identify molecular markers for disease diagnosis and progression. However, the high variability of genetic background in human populations hampers the reproducibility of omic-scale markers...
December 19, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29248686/augmented-reality-for-personalized-nanomedicines
#12
REVIEW
Yugyung Lee, Chi H Lee
As our understanding of onset and progress of diseases at the genetic and molecular level rapidly progresses, the potential of advanced technologies, such as 3D-printing, Socially-Assistive Robots (SARs) or augmented reality (AR), that are applied to personalized nanomedicines (PNMs) to alleviate pathological conditions, has become more prominent. Among advanced technologies, AR in particular has the greatest potential to address those challenges and facilitate the translation of PNMs into formidable clinical application of personalized therapy...
December 14, 2017: Biotechnology Advances
https://www.readbyqxmd.com/read/29247589/whole-exome-sequencing-to-identify-genetic-markers-for-trastuzumab-induced-cardiotoxicity
#13
Chihiro Udagawa, Hiromi Nakamura, Hiroshi Ohnishi, Kenji Tamura, Tatsunori Shimoi, Masayuki Yoshida, Teruhiko Yoshida, Yasushi Totoki, Tatsuhiro Shibata, Hitoshi Zembutsu
Although trastuzumab-induced cardiotoxicity is an important determinant to limit the use of this drug, the molecular mechanism of risk for this toxicity is not well understood. To identify genetic variants determining the risk of trastuzumab-induced cardiotoxicity, we performed whole exome sequencing of germline DNA samples from 9 patients with trastuzumab-induced cardiotoxicity, and conducted a case-control association study of 2,258 genetic variants between 9 cases (with trastuzumab-induced cardiotoxicity) and general Japanese population controls registered in Human Genetic Variation Database (HGVD)...
December 16, 2017: Cancer Science
https://www.readbyqxmd.com/read/29246098/optic-pathway-gliomas-in-neurofibromatosis-type-1
#14
Cynthia J Campen, David H Gutmann
Neurofibromatosis type 1 (NF1) is one of the most common brain tumor predisposition syndromes, in which affected children are prone to the development of low-grade gliomas. While NF1-associated gliomas can be found in several brain regions, the majority arise in the optic nerves, chiasm, tracts, and radiations (optic pathway gliomas; OPGs). Owing to their location, 35-50% of affected children present with reduced visual acuity. Unfortunately, despite tumor stabilization following chemotherapy, vision does not improve in most children...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29233477/molecular-anatomy-of-the-developing-human-retina
#15
Akina Hoshino, Rinki Ratnapriya, Matthew J Brooks, Vijender Chaitankar, Matthew S Wilken, Chi Zhang, Margaret R Starostik, Linn Gieser, Anna La Torre, Mario Nishio, Olivia Bates, Ashley Walton, Olivia Bermingham-McDonogh, Ian A Glass, Rachel O L Wong, Anand Swaroop, Thomas A Reh
Clinical and genetic heterogeneity associated with retinal diseases makes stem-cell-based therapies an attractive strategy for personalized medicine. However, we have limited understanding of the timing of key events in the developing human retina, and in particular the factors critical for generating the unique architecture of the fovea and surrounding macula. Here we define three key epochs in the transcriptome dynamics of human retina from fetal day (D) 52 to 136. Coincident histological analyses confirmed the cellular basis of transcriptional changes and highlighted the dramatic acceleration of development in the fovea compared with peripheral retina...
December 1, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29232470/how-can-molecular-abnormalities-influence-our-clinical-approach
#16
W Wei, F Giulia, S Luffer, R Kumar, B Wu, M Tavallai, R T Bekele, M J Birrer
Background: Despite improvements in diagnostics and treatment, the clinical outcome of epithelial ovarian cancer remains poor over the last three decades. Recent high-throughput genomic studies have demonstrated ovarian cancer as a highly heterogeneous entity with distinctive molecular signatures among different or even within the same histotype. In this article, we review the molecular genetics of epithelial ovarian cancer and how they have been translated into modern clinical trials, as well as their implications in patient stratification for more targeted and personalized approaches...
November 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29227308/medical-bioinformatics-in-melanoma
#17
Phil F Cheng
PURPOSE OF REVIEW: Bioinformatic insights from next-generation sequencing has been integral in understanding melanoma biology, resistance to treatment and provided new avenues for melanoma treatment. Whole-genome sequencing, whole-exome sequencing and RNA sequencing has redefined the molecular classification of melanoma, revealed distinct genetic aberrations that define clinical subtypes of melanoma and uncovered the diverse heterogeneity that resides in an individual tumor. RECENT FINDINGS: In this review, we will summarize the recent whole-genome study that catalogs the genomic landscape across many melanoma subtypes, the single-cell RNA sequencing studies that interrogates tumor heterogeneity and the personalized vaccine approaches to melanoma treatment...
December 8, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/29226035/molecular-evolution-of-virulence-genes-and-non-virulence-genes-in-clinical-natural-and-artificial-environmental-legionella-pneumophila-isolates
#18
Xiao-Yong Zhan, Qing-Yi Zhu
Background: L. pneumophila is the main causative agent of Legionnaires' disease. Free-living amoeba in natural aquatic environments is the reservoir and shelter for L. pneumophila. From natural water sources, L. pneumophila can colonize artificial environments such as cooling towers and hot-water systems, and then spread in aerosols, infecting the susceptible person. Therefore, molecular phylogeny and genetic variability of L. pneumophila from different sources (natural water, artificial water, and human lung tissue) might be distinct because of the selection pressure in different environments...
2017: PeerJ
https://www.readbyqxmd.com/read/29222010/a-novel-nr2f2-loss-of-function-mutation-predisposes-to-congenital-heart-defect
#19
Xiao-Hui Qiao, Qian Wang, Juan Wang, Xing-Yuan Liu, Ying-Jia Xu, Ri-Tai Huang, Song Xue, Yan-Jie Li, Min Zhang, Xin-Kai Qu, Ruo-Gu Li, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial genetic heterogeneity. In this study, the coding exons and splicing boundaries of the NR2F2 gene, which encodes a pleiotropic transcription factor required for normal cardiovascular development, were sequenced in 168 unrelated patients with CHD, and a novel mutation (c...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29218886/clingen-cancer-somatic-working-group-standardizing-and-democratizing-access-to-cancer-molecular-diagnostic-data-to-drive-translational-research
#20
Subha Madhavan, Deborah Ritter, Christine Micheel, Shruti Rao, Angshumoy Roy, Dmitriy Sonkin, Matthew Mccoy, Malachi Griffith, Obi L Griffith, Peter Mcgarvey, Shashikant Kulkarni
A growing number of academic and community clinics are conducting genomic testing to inform treatment decisions for cancer patients (1). In the last 3-5 years, there has been a rapid increase in clinical use of next generation sequencing (NGS) based cancer molecular diagnostic (MolDx) testing (2). The increasing availability and decreasing cost of tumor genomic profiling means that physicians can now make treatment decisions armed with patient-specific genetic information. Accumulating research in the cancer biology field indicates that there is significant potential to improve cancer patient outcomes by effectively leveraging this rich source of genomic data in treatment planning (3)...
2018: Pacific Symposium on Biocomputing
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