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https://www.readbyqxmd.com/read/28549293/automated-recognition-of-the-pericardium-contour-on-processed-ct-images-using-genetic-algorithms
#1
É O Rodrigues, L O Rodrigues, L S N Oliveira, A Conci, P Liatsis
This work proposes the use of Genetic Algorithms (GA) in tracing and recognizing the pericardium contour of the human heart using Computed Tomography (CT) images. We assume that each slice of the pericardium can be modelled by an ellipse, the parameters of which need to be optimally determined. An optimal ellipse would be one that closely follows the pericardium contour and, consequently, separates appropriately the epicardial and mediastinal fats of the human heart. Tracing and automatically identifying the pericardium contour aids in medical diagnosis...
May 17, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28549203/polymorphisms-in-the-melatonin-receptor-gene-promoter-and-their-associations-with-fertility-characteristics-in-buffalo-herd-in-eastern-amazon
#2
E M Barbosa, B B Souza, R C Guimarães, L K N Silva, J S N Azevedo, E C Gonçalves, H F L Ribeiro, S T Rolim Filho, E Silva Filho
Buffalo production is spreading globally because of its economic advantage. Then, it has become necessary to improve the reproductive and productive efficiency of these animals, as well as to look for genetic factors that increase this efficiency. The objectives of this study were to characterize the promoter region of the melatonin 1A receptor gene (MTRN1A), to detect possible SNPs and associate them with fertility characteristics, and identify binding sites of transcription factors involved in the regulation of genetic expression in buffaloes in the Amazon...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28549194/disentangling-timing-of-admixture-patterns-of-introgression-and-phenotypic-indicators-in-a-hybridizing-wolf-population
#3
M Galaverni, R Caniglia, L Pagani, E Fabbri, A Boattini, E Randi
Hybridization is a natural or anthropogenic process that can deeply affect the genetic make-up of populations, possibly decreasing individual fitness but sometimes favouring local adaptations. The population of Italian wolves (Canis lupus), after protracted demographic declines and isolation, is currently expanding in anthropic areas, with documented cases of hybridization with stray domestic dogs. However, identifying admixture patterns in deeply introgressed populations is far from trivial. In this study, we used a panel of 170,000 SNPs analysed with multivariate, Bayesian and local ancestry reconstruction methods to identify hybrids, estimate their ancestry proportions and timing since admixture...
May 26, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#4
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549074/cwdprnp-a-tool-for-cervid-prion-sequence-analysis-in-program-r
#5
William L Miller, W David Walter
Summary: Chronic wasting disease is a fatal neurological, disease caused by an infectious prion protein, which affects economically and ecologically important members of the family Cervidae. Single nucleotide polymorphisms within the prion protein gene have been linked to differential susceptibility to the disease in many species. Wildlife managers are seeking to determine the frequencies of disease-associated alleles and genotypes and delineate spatial genetic patterns. The CWDPRNP package, implemented in program R, provides a unified framework for analyzing prion protein gene variability and spatial structure...
May 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28549072/predictors-of-25-hydroxyvitamin-d-measured-at-multiple-time-points-in-a-multiethnic-population
#6
Julia A Knight, Jody Wong, David E C Cole, Tim K Lee, Esteban J Parra
The evidence for a relationship of vitamin D with non-skeletal health outcomes is inconsistent. The validity of single or predicted measurements of 25-hydroxyvitamin D (25(OH)D) is unknown as this biomarker is highly seasonally variable. We compared models of 25(OH)D at baseline, at multiple time points throughout the year, and averaged over the year in 309 individuals in Toronto, Canada (43˚ N), 2009-2013. Information and blood samples were collected every two months. Baseline and average concentrations were correlated (r = 0...
May 26, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28548954/a-single-nucleotide-polymorphism-of-aire-gene-located-in-the-21q22-3-increases-the-risk-of-rheumatoid-arthritis
#7
Yuan-Sheng Xu, Xi-Jia Jiang, Jian-Min Chen
Several studies addressed the association of autoimmune regulator (AIRE) gene polymorphism with the risk of rheumatoid arthritis (RA); however, their conclusions were inconsistent. For better investigating the effects of this polymorphism on the risk of RA, we conducted this study to evaluate the role of AIRE rs2075786 polymorphism in the risk of RA. Four eligible studies involving 6,755 cases and 7,970 controls were identified by searching the databases of PubMed, CNKI and EMBASE up to February 2017. Our study revealed that AIRE rs2075786 polymorphism was associated with an increased risk of RA under all genetic models...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548933/kir2dl5-mutation-and-loss-underlies-sporadic-dermal-neurofibroma-pathogenesis-and-growth
#8
Corina Anastasaki, Sonika Dahiya, David H Gutmann
Dermal neurofibromas (DNFs) are benign peripheral nerve sheath tumors thought to originate from Schwann cell progenitors. These tumors represent one of the hallmarks of the neurofibromatosis type 1 (NF1) tumor predisposition syndrome, where they can number in the thousands. While NF1-DNFs arise due to mutations in the NF1 gene, the vast majority of DNFs occur sporadically (sp-DNFs), where the genetic etiology is currently unknown. Herein, we employed whole-exome sequencing of sp-DNFs to identify a recurrent mutation in the KIR2DL5 gene, which codes for a protein suppressor of natural killer (NK) cell activity...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548881/constraints-drivers-and-implications-of-influenza-a-virus-reassortment
#9
Anice C Lowen
Influenza A viruses are constantly changing. This change accounts for seasonal epidemics, infrequent pandemics, and zoonotic outbreaks. A major mechanism underlying the genetic diversification of influenza A virus is reassortment of intact gene segments between coinfecting viruses. This exchange is possible because of the segmented nature of the viral genome. Here, I first consider the constraints and drivers acting on influenza A virus reassortment, including the likelihood of coinfection at the host and cellular levels, mixing and assembly of heterologous gene segments within coinfected cells, and the fitness associated with reassortant genotypes...
May 26, 2017: Annual Review of Virology
https://www.readbyqxmd.com/read/28548708/glucocerebrosidase-mutations-and-neuropsychiatric-phenotypes-in-parkinson-s-disease-and-lewy-body-dementias-review-and-meta-analyses
#10
REVIEW
Byron Creese, Emily Bell, Iskandar Johar, Paul Francis, Clive Ballard, Dag Aarsland
Heterozygous mutations in glucocerebrosidase gene (GBA) are a major genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Recently, there has been a considerable focus on the relationship between GBA mutations and emergence of cognitive impairment and neuropsychiatric symptoms in these diseases. Here, we review the literature in this area, with a particular focus, including meta-analysis, on the key neuropsychiatric symptoms of cognitive impairment, psychosis, and depression in Parkinson's disease...
May 26, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28548598/associations-between-endothelin-polymorphisms-and-aneurysmal-subarachnoid-hemorrhage-clinical-vasospasm-delayed-cerebral-ischemia-and-functional-outcome
#11
Christoph J Griessenauer, Robert M Starke, Paul M Foreman, Philipp Hendrix, Mark R Harrigan, Winfield S Fisher, Nilesh A Vyas, Robert H Lipsky, Mingkuan Lin, Beverly C Walters, Jean-Francois Pittet, Mali Mathru
OBJECTIVE Endothelin-1, a potent vasoconstrictor, and its receptors may be involved in the pathogenesis of aneurysmal subarachnoid hemorrhage (aSAH), clinical vasospasm, delayed cerebral ischemia (DCI), and functional outcome following aSAH. In the present study, common endothelin single nucleotide polymorphisms (SNPs) and their relation to aSAH were evaluated. METHODS Blood samples from all patients enrolled in the Cerebral Aneurysm Renin Angiotensin System (CARAS) study were used for genetic evaluation. The CARAS study prospectively enrolled patients with aSAH at 2 academic institutions in the US from 2012 to 2015...
May 26, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28548568/genetic-antigenic-and-pathogenic-characteristics-of-newcastle-disease-viruses-isolated-from-geese-in-china
#12
Qianqian Xu, Junfeng Sun, Mengying Gao, Shasha Zhao, Huairan Liu, TingTing Zhang, Zongxi Han, Xiangang Kong, Shengwang Liu
Four Newcastle disease virus (NDV) strains were isolated from domestic, commercial geese that showed clinical signs that were believed to be the result of NDV infections. The genetic, antigenic, and pathogenic characteristics of the 4 NDVs were compared with those of NDV strains that were isolated from chickens. The complete genomes of 2 of the NDV strains contained 15,186 nucleotides (nt); the other 2 contained 15,192 nt, and exhibited the typical genomic organization of genotype II NDV and molecular characteristics of VIId NDVs...
May 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28548558/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management
#13
Yvonne G Weber, Saskia Biskup, Katherine L Helbig, Sarah von Spiczak, Holger Lerche
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing...
May 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28548488/a-fluorescent-split-aptamer-for-visualizing-rna-rna-assembly-in-vivo
#14
Khalid K Alam, Kwaku D Tawiah, Matthew F Lichte, David Porciani, Donald H Burke
RNA-RNA assembly governs key biological processes and is a powerful tool for engineering synthetic genetic circuits. Characterizing RNA assembly in living cells often involves monitoring fluorescent reporter proteins, which are at best indirect measures of underlying RNA-RNA hybridization events and are subject to additional temporal and load constraints associated with translation and activation of reporter proteins. In contrast, RNA aptamers that sequester small molecule dyes and activate their fluorescence are increasingly utilized in genetically encoded strategies to report on RNA-level events...
May 26, 2017: ACS Synthetic Biology
https://www.readbyqxmd.com/read/28548292/hypertriglyceridemic-acute-pancreatitis-in-an-emergency-department-the-typical-clinical-features-and-genetic-variants
#15
Wan Jun Chen, Xiao Fan Sun, Rui Xue Zhang, Min Jie Xu, Tong Hai Dou, Xiao Bin Zhang, Min Zhong, Wei Qiang Yang, Li Liu, Xiao Ye Lu, Chang Qing Zhu
OBJECTIVE: To investigate the clinical characteristics of hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to the hypertriglyceridemia in this group of patients. METHODS: Clinical data from 329 patients with AP were collected and analyzed. All the patients were divided into 1) HTGAP group (n = 40), with fasting serum triglyceride ≥ 500 mg/dL; and 2) NHTGAP group (n = 289). Next, the targeted next-generation sequencing was applied in 11 HTGAP patients to detect the genetic mutation associated with hypertriglyceridemia that included apolipoprotein A-5 (APOA5), apolipoprotein C-3 (APOC3), apolipoprotein E (APOE), BLK proto-oncogene, lipoprotein lipase (LPL), apolipoprotein C-2 (APOC2), glycosylphosphatidylinositol anchored high density lipoprotein binding protein-1(GPIHBP1), and lipase maturation factor-1(LMF1)...
May 26, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28548215/protein-z-and-endothelin-1-genetic-polymorphisms-in-pediatric-egyptian-sickle-cell-disease-patients
#16
Mervat M Khorshied, Nohair S Mohamed, Rania S Hamza, Rasha M Ali, Mona K El-Ghamrawy
BACKGROUND: Sickle cell disease (SCD) is a monogenic disease associated with multisystem morbidity. Vasculopathy caused by delicate imbalance between coagulation and endothelial systems plays a pivotal role in disease course. As Protein Z and Endothelin-1 genetic polymorphisms may increase the thrombotic risk, the aim of the current work was to verify the possible impact of Protein Z (PROZ G79A) and Endothelin-1 (EDN1 G5665T) polymorphisms on the clinic-laboratory features of the SCD in a cohort of Egyptian pediatric patients...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28548211/a-haplotype-block-downstream-of-plasminogen-is-associated-with-chronic-and-aggressive-periodontitis
#17
Matthias Munz, Hong Chen, Yvonne Jockel-Schneider, Knut Adam, Per Hoffman, Klaus Berger, Thomas Kocher, Jörg Meyle, Peter Eickholz, Christof Doerfer, Matthias Laudes, André Uitterlinden, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Steven Offenbacher, Kimon Divaris, Corinna Bruckmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
AIM: The intronic variant rs4252120 in the plasminogen gene (PLG) is known to be associated with aggressive periodontitis (AgP) and atherosclerosis. Here, we examined the chromosomal region spanning PLG for associations with both chronic periodontitis (CP) and AgP. MATERIAL AND METHODS: The association of PLG candidate rs4252120 was tested in a German case-control sample of 1,419 CP cases using the genotyping assay hCV11225947 and 4,562 controls, genotyped with HumanOmni BeadChips...
May 26, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28548127/mismatch-repair-deficiency-commonly-precedes-adenoma-formation-in-lynch-syndrome-associated-colorectal-tumorigenesis
#18
Shigeki Sekine, Taisuke Mori, Reiko Ogawa, Masahiro Tanaka, Hiroshi Yoshida, Hirokazu Taniguchi, Takeshi Nakajima, Kokichi Sugano, Teruhiko Yoshida, Mamoru Kato, Eisaku Furukawa, Atsushi Ochiai, Nobuyoshi Hiraoka
Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28548121/ebv-negative-aggressive-nk-cell-leukemia-lymphoma-a-clinical-and-pathological-study-from-a-single-institution
#19
Juehua Gao, Amir Behdad, Peng Ji, Kristy L Wolniak, Olga Frankfurt, Yi-Hua Chen
Aggressive natural killer (NK)-cell leukemia/lymphoma is a systemic NK-cell neoplasm that preferentially affects Asians with a fulminant clinical course and is almost always associated with Epstein-Barr virus (EBV). The data on EBV-negative aggressive NK-cell leukemia/lymphoma are limited. Here we report a series of three patients (two Caucasians, one African-American) with EBV-negative aggressive NK-cell leukemia/lymphoma from a single institution, including a case diagnosed on post-mortem examination. Similar to EBV-positive aggressive NK-cell leukemia/lymphoma, our patients presented with constitutional symptoms and hepatosplenomegaly, and followed a highly aggressive clinical course...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28548103/an-aavp-based-solid-phase-transducing-matrix-for-transgene-delivery-potential-for-translational-applications
#20
T L Smith, G R Souza, R L Sidman, W Arap, R Pasqualini
A hybrid vector of adeno-associated virus and phage (termed AAVP) has been introduced as a platform for systemic ligand-directed delivery of transgenes to tumors over the past decade. A series of studies have evaluated the AAVP platform for potential theranostic or purely therapeutic applications in several tumor models. Sufficient ligand-directed tumor targeting consistently resulted in specific molecular-genetic imaging and/or anti-tumor responses to 'suicide' transgene delivery. However, efforts to optimize transduction efficiency are still ongoing...
May 26, 2017: Cancer Gene Therapy
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