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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/28549078/herod-a-human-ethnic-and-regional-specific-omics-database
#2
Xian Zeng, Lin Tao, Zhang Peng, Chu Qin, Shangying Chen, Weidong He, Ying Tan, Hong Xia Liu, Sheng Yong Yang, Zhe Chen, Yu Yang Jiang, Yu Zong Chen
Motivation: Genetic and gene expression variations within and between populations and across geographical regions have substantial effects on the biological phenotypes, diseases, and therapeutic response. The development of precision medicines can be facilitated by the OMICS studies of the patients of specific ethnicity and geographic region. However, there is an inadequate facility for broadly and conveniently accessing the ethnic and regional specific OMICS data. Results: Here, we introduced a new free database, HEROD, a human ethnic and regional specific OMICS database...
May 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28548933/kir2dl5-mutation-and-loss-underlies-sporadic-dermal-neurofibroma-pathogenesis-and-growth
#3
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/28548211/a-haplotype-block-downstream-of-plasminogen-is-associated-with-chronic-and-aggressive-periodontitis
#4
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/28547798/a-tough-nut-to-crack-intracellular-detection-and-quantification-of-heme-in-malaria-parasites-by-a-genetically-encoded-protein-sensor
#5
Diana Imhof, Amelie Wißbrock
A genetically encoded protein sensor based on HRP2 was used to detect heme in the human malaria parasite Plasmodium falciparum using fluorescence-quenching after heme binding. Protein labels ECFP and EYFP were attached to the termini to allow for a FRET signal as the initial detection parameter before heme binding. The sensor was eventually used to investigate alterations of the labile heme pool during the parasite's life cycle as well as under the influence of the drug chloroquine.
May 26, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28547032/car8-dorsal-root-ganglion-expression-and-genetic-regulation-of-analgesic-responses-are-associated-with-a-cis-eqtl-in-mice
#6
Roy C Levitt, Gerald Y Zhuang, Yuan Kang, Diana M Erasso, Udita Upadhyay, Mehtap Ozdemir, Eugene S Fu, Konstantinos D Sarantopoulos, Shad B Smith, William Maixner, Luda Diatchenko, Eden R Martin, Tim Wiltshire
Carbonic anhydrase-8 (Car8 mouse gene symbol) is devoid of enzymatic activity, but instead functions as an allosteric inhibitor of inositol trisphosphate receptor-1 (ITPR1) to regulate this intracellular calcium release channel important in synaptic functions and neuronal excitability. Causative mutations in ITPR1 and carbonic anhydrase-8 in mice and humans are associated with certain subtypes of spinal cerebellar ataxia (SCA). SCA mice are genetically deficient in dorsal root ganglia (DRG) Car8 expression and display mechanical and thermal hypersensitivity and susceptibility to subacute and chronic inflammatory pain behaviors...
May 25, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28546996/a-mutation-creating-an-upstream-initiation-codon-in-the-sox9-5-utr-causes-acampomelic-campomelic-dysplasia
#7
Anna E von Bohlen, Johann Böhm, Ramona Pop, Diana S Johnson, John Tolmie, Ralf Stücker, Deborah Morris-Rosendahl, Gerd Scherer
BACKGROUND: Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS: This is a single case report on a patient with clinical and radiological features of ACD who has no mutation in the SOX9 protein-coding sequence nor a translocation with breakpoint in the SOX9 regulatory domain...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546954/pleiotropic-cytotoxicity-of-vaca-toxin-in-host-cells-and-its-impact-on-immunotherapy
#8
REVIEW
Farnaz Fahimi, Mohammad Reza Tohidkia, Mehdi Fouladi, Reza Aghabeygi, Naser Samadi, Yadollah Omidi
Introduction: In the recent decades, a number of studies have highlighted the importance of Helicobacter pylori in the initiation and development of peptic ulcer and gastric cancer. Some potential virulence factors (e.g., urease, CagA, VacA, BabA) are exploited by this microorganism, facilitating its persistence through evading human defense mechanisms. Among these toxins and enzymes, vacuolating toxin A (VacA) is of a great importance in the pathogenesis of H. pylori. VacA toxin shows different pattern of cytotoxicity through binding to different cell surface receptors in various cells...
2017: BioImpacts: BI
https://www.readbyqxmd.com/read/28546563/microbiota-in-t-cell-homeostasis-and-inflammatory-diseases
#9
REVIEW
Naeun Lee, Wan-Uk Kim
The etiology of disease pathogenesis can be largely explained by genetic variations and several types of environmental factors. In genetically disease-susceptible individuals, subsequent environmental triggers may induce disease development. The human body is colonized by complex commensal microbes that have co-evolved with the host immune system. With the adaptation to modern lifestyles, its composition has changed depending on host genetics, changes in diet, overuse of antibiotics against infection and elimination of natural enemies through the strengthening of sanitation...
May 26, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/28546545/extensive-phenotypic-characterization-of-a-new-transgenic-mouse-reveals-pleiotropic-perturbations-in-physiology-due-to-mesenchymal-hgh-minigene-expression
#10
Aimilios Kaklamanos, Jan Rozman, Manolis Roulis, Niki Karagianni, Maria Armaka, Moya Wu, Laura Brachthäuser, Julia Calzada-Wack, Marion Horsch, Johannes Beckers, Birgit Rathkolb, Thure Adler, Frauke Neff, Eckhard Wolf, Valerie Gailus-Durner, Helmut Fuchs, Martin Hrabe de Angelis, George Kollias
The human growth hormone (hGH) minigene used for transgene stabilization in mice has been recently identified to be locally expressed in the tissues where transgenes are active and associated with phenotypic alterations. Here we extend these findings by analyzing the effect of the hGH minigene in TgC6hp55 transgenic mice which express the human TNFR1 under the control of the mesenchymal cell-specific CollagenVI promoter. These mice displayed a fully penetrant phenotype characterized by growth enhancement accompanied by perturbations in metabolic, skeletal, histological and other physiological parameters...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28545977/elevated-glutaric-acid-levels-in-dhtkd1-gcdh-double-knockout-mice-challenge-our-current-understanding-of-lysine-metabolism
#11
Caroline Biagosch, RagaDeepthi Ediga, Svenja-Viola Hensler, Michael Faerberboeck, Ralf Kuehn, Wolfgang Wurst, Thomas Meitinger, Stefan Kölker, Sven Sauer, Holger Prokisch
Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH). GCDH deficiency leads to disruption of L-lysine degradation with characteristic accumulation of glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA, 3-hydroxyglutaric acid (3-OHGA). DHTKD1 acts upstream of GCDH, and its deficiency leads to none or often mild clinical phenotype in humans, 2-aminoadipic 2-oxoadipic aciduria. We hypothesized that inhibition of DHTKD1 may prevent the accumulation of neurotoxic dicarboxylic metabolites suggesting DHTKD1 inhibition as a possible treatment strategy for GA-I...
May 22, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28545922/diseases-of-connexins-expressed-in-myelinating-glia
#12
REVIEW
Charles K Abrams
Connexins are a family of integral membrane proteins most of which form gap junctions and many of which form hemichannels as well. Mutations in at least 9 of the 21 genes encoding human connexin proteins cause human diseases. Mutations in GJB1 (Cx32), expressed in both Schwann cells and oligodendrocytes, cause both a form of inherited peripheral neuropathy and a variety of CNS symptoms. Mutations in GJC2 (Cx47), expressed only in oligodendrocytes within the nervous system, cause a severe early onset dysmyelinating disorder, Pelizaeus-Merzbacher-Like disease (PMLD1 or HLD2), hereditary spastic paraplegia (SPG44), which has a milder phenotype and later onset, and a subclinical leukodystrophy...
May 22, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28545837/emerging-technologies-for-prediction-of-drug-candidate-efficacy-in-the-preclinical-pipeline
#13
Denis Menshykau
The pharmaceutical industry is tackling increasingly complex multifactorial diseases, resulting in increases in research & development (R&D) costs and reductions in the success rates for drug candidates during Phase 2 and 3 clinical trials, with a lack of efficacy being the primary reason for drug candidate failure. This implies that the predictive power of current preclinical assays for drug candidate efficacy is suboptimal and, therefore, that alternatives should be developed. Here, I review emerging in vitro, imaging, and in silico technologies and discuss their potential contribution to drug efficacy assessment...
May 22, 2017: Drug Discovery Today
https://www.readbyqxmd.com/read/28545610/a-case-based-reasoning-system-based-on-weighted-heterogeneous-value-distance-metric-for-breast-cancer-diagnosis
#14
Dongxiao Gu, Changyong Liang, Huimin Zhao
OBJECTIVE: We present the implementation and application of a case-based reasoning (CBR) system for breast cancer related diagnoses. By retrieving similar cases in a breast cancer decision support system, oncologists can obtain powerful information or knowledge, complementing their own experiential knowledge, in their medical decision making. METHODS: We observed two problems in applying standard CBR to this context: the abundance of different types of attributes and the difficulty in eliciting appropriate attribute weights from human experts...
March 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28545432/the-impact-of-migratory-flyways-on-the-spread-of-avian-influenza-virus-in-north-america
#15
Mathieu Fourment, Aaron E Darling, Edward C Holmes
BACKGROUND: Wild birds are the major reservoir hosts for influenza A viruses (AIVs) and have been implicated in the emergence of pandemic events in livestock and human populations. Understanding how AIVs spread within and across continents is therefore critical to the development of successful strategies to manage and reduce the impact of influenza outbreaks. In North America many bird species undergo seasonal migratory movements along a North-South axis, thereby providing opportunities for viruses to spread over long distances...
May 25, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28545104/pkng-senses-amino-acid-availability-to-control-metabolism-and-virulence-of-mycobacterium-tuberculosis
#16
Barbara Rieck, Giulia Degiacomi, Michael Zimmermann, Alessandro Cascioferro, Francesca Boldrin, Natalie R Lazar-Adler, Andrew R Bottrill, Fabien le Chevalier, Wafa Frigui, Marco Bellinzoni, María-Natalia Lisa, Pedro M Alzari, Liem Nguyen, Roland Brosch, Uwe Sauer, Riccardo Manganelli, Helen M O'Hare
Sensing and response to changes in nutrient availability are essential for the lifestyle of environmental and pathogenic bacteria. Serine/threonine protein kinase G (PknG) is required for virulence of the human pathogen Mycobacterium tuberculosis, and its putative substrate GarA regulates the tricarboxylic acid cycle in M. tuberculosis and other Actinobacteria by protein-protein binding. We sought to understand the stimuli that lead to phosphorylation of GarA, and the roles of this regulatory system in pathogenic and non-pathogenic bacteria...
May 17, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#17
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28545024/an-unusual-intragenic-promoter-of-piwil2-contributes-to-aberrant-activation-of-oncogenic-pl2l60
#18
Shan-Shan Liu, Ning Liu, Meng-Yao Liu, Lei Sun, Wu-Yan Xia, Hong-Min Lu, Yu-Jie Fu, Guo-Liang Yang, Juan-Jie Bo, Xiao-Xing Liu, Haizhong Feng, Hailong Wu, Lin-Feng Li, Jian-Xin Gao
PIWIL2-like (PL2L) protein 60 (PL2L60), a product of aberrantly activated PIWIL2 gene, is widely expressed in various types of tumors and may promote tumorigenesis. However, the mechanisms underlying the activation of expression of PL2L60 remain unknown. In this study, an intragenic promoter responsible for the activation of PL2L60 within the human PIWIL2 gene has been identified, cloned and characterized. The promoter of PL2L60 is located in the intron 10 of the host gene PIWIL2. Bioinformatic and mutagenic analysis reveals that this intragenic promoter within the sequence of 50 nucleotides contains two closely arranged cis-acting elements specific for the hepatic leukemia factor (HLF) in the positive strand and signal transducer and activator of transcription 3 (STAT3) in the negative strand...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28544727/ultraviolet-radiation-accelerates-nras-mutant-melanomagenesis-a-cooperative-effect-blocked-by-sunscreen
#19
Rebecca C Hennessey, Andrea M Holderbaum, Anamaria Bonilla, Conor Delaney, James E Gillahan, Kathleen L Tober, Tatiana M Oberyszyn, Jonathan H Zippin, Christin E Burd
To mitigate melanoma risk, sunscreen use is widely advocated; yet, the ability of sunscreens to prevent melanoma remains controversial. Here, we test the tenet that sunscreens limit melanoma risk by blocking ultraviolet radiation (UV)-induced DNA damage using murine models that recapitulate the genetics and spontaneous evolution of human melanoma. We find that a single, non-erythematous dose of UV dramatically accelerates melanoma onset and increases tumor multiplicity in mice carrying an endogenous, melanocyte-specific NRas(61R) allele...
May 24, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28544663/from-song-dialects-to-speciation-in-white-crowned-sparrows
#20
David P L Toews
The behavioural signals used in mate selection are a key component in the evolution of premating isolating barriers and, subsequently, the formation of new species. The importance of mating signals has a long tradition of study in songbirds, where many species differ in their song characteristics. In oscine songbirds, individual birds usually learn their songs from a tutor. Mistakes during learning can help generate geographic dialects, akin to those within human language groups. In songbirds, dialect differences can often be substantial and there is an intuitive connection between the evolution of song amongst populations at a small scale, and the more substantive song differences between bird species and presumably used in species recognition...
June 2017: Molecular Ecology
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