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https://www.readbyqxmd.com/read/28214357/nesting-habits-influence-population-genetic-structure-of-a-bee-living-in-anthropogenic-disturbance
#1
J L Vickruck, M H Richards
While most organisms are negatively affected by anthropogenic disturbance, a few species thrive in landscapes altered by humans. Typically, native bees are negatively impacted by anthropogenic environmental change, including habitat alteration and climate change. Here we investigate the population structure of the eastern carpenter bee Xylocopa virginica, a generalist pollinator with a broad geographic range spanning eastern North America. Eastern carpenter bees now nest almost exclusively in human made wooden structures, linking their geographic distribution and population structure to human activities and disturbance...
February 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28213156/myotonic-dystrophy-disease-repeat-range-penetrance-age-of-onset-and-relationship-between-repeat-size-and-phenotypes
#2
REVIEW
Kevin Yum, Eric T Wang, Auinash Kalsotra
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28212370/the-evolution-of-allogeneic-stem-cell-transplant-for-children-and-adolescents-with-acute-myeloid-leukemia
#3
Allyson Flower, Mitchell S Cairo
Survival rates in subsets of pediatric patients who have acute myeloid leukemia (AML) with favorable risk features are now greater than 90%. However, outcomes for patients with high-risk (HR) features remain unacceptably poor. As novel technologies for the identification of HR biomarkers and the detection of residual disease are developed, risk stratification and the application of allogeneic hematopoietic stem cell transplant (HSCT) are evolving. HSCT has been shown to benefit subpopulations of pediatric patients with AML, including those with HR cytogenetic translocations, genetic mutations, and/or residual disease after induction...
January 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/28211679/site-directed-immobilization-of-bmp-2-two-approaches-for-the-production-of-innovative-osteoinductive-scaffolds
#4
Barbara Tabisz, Werner Schmitz, Michael Schmitz, Tessa Luehmann, Eva Heusler, Jens-Christoph Rybak, Lorenz Meinel, Juliane E Fiebig, Thomas D Mueller, Joachim Nickel
The regenerative potential of bone is strongly impaired in pathological conditions, such as nonunion fractures. To support bone regeneration various scaffolds have been developed in the past, which have been functionalized with osteogenic growth factors such as bone morphogenetic proteins (BMPs). However, most of them required supra-physiological levels of these proteins leading to burst releases, thereby causing severe side effects. Site-specific, covalent coupling of BMP2 to implant materials might be an optimal strategy in order to overcome these problems...
February 17, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28209761/genetic-adaptation-of-the-schizothoracine-fishes-to-the-phased-uplifting-of-qinghai-tibetan-plateau
#5
Dongsheng Zhang, Mengchao Yu, Peng Hu, Sihua Peng, Yimeng Liu, Weiwen Li, Congcong Wang, Shunping He, Wanying Zhai, Qianghua Xu, Liangbiao Chen
Many species of Schizothoracine, a sub-family of Cyprinidae, are highly endemic to the Qinghai-Tibetan Plateau (QTP). To characterize the adaptive changes associated with the Schizothoracine expansion in high-altitudes, we sequenced tissue transcriptomes of two highland and two sub-highland Schizothoracines, and analyzed gene evolution patterns by comparing to lowland cyprinids. Phylogenetic tree reconstruction and divergence time estimation indicated that the common ancestor of Schizothoracine fishes lived around 32...
February 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28209157/stakeholder-perspectives-on-the-implementation-of-genetic-carrier-screening-in-a-changing-landscape
#6
Kim C A Holtkamp, Evelien M Vos, Tessel Rigter, Phillis Lakeman, Lidewij Henneman, Martina C Cornel
BACKGROUND: In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold transition in carrier screening: the expansion from screening one single disorder to many disorders simultaneously, and offering screening universally, regardless of ancestry. This study aims to identify general and population-specific barriers and needs reflected by stakeholders regarding the implementation of carrier screening in a changing landscape...
February 16, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28205577/epigenetic-signatures-of-invasive-status-in-populations-of-marine-invertebrates
#7
Alba Ardura, Anastasija Zaiko, Paloma Morán, Serge Planes, Eva Garcia-Vazquez
Epigenetics, as a DNA signature that affects gene expression and enables rapid reaction of an organism to environmental changes, is likely involved in the process of biological invasions. DNA methylation is an epigenetic mechanism common to plants and animals for regulating gene expression. In this study we show, for the first time in any marine species, significant reduction of global methylation levels during the expansive phase of a pygmy mussel (Xenostrobus securis) recent invasion in Europe (two-year old), while in older introductions such epigenetic signature of invasion was progressively reduced...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205222/strong-amerindian-mitonuclear-discordance-in-puerto-rican-genomes-suggests-amerindian-mitochondrial-benefit
#8
Steven E Massey
A large discrepancy between the Amerindian contribution to the mitochondrial and nuclear genetic components of 55 Puerto Rican (PR) genomes from the 1000 Genomes Project is identified, with Amerindian mitochondrial haplotypes being highly represented (67.3%), in strong contrast to the Amerindian autosomal contribution (12.9%). I examine the potential causes behind this strong mitonuclear discordance. The Amerindian contribution to the X chromosome is 19.8%, implying assortative mating with Amerindian females during the establishment of the PR population...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28203606/dna-methylation-in-oligodendroglial-cells-during-developmental-myelination-and-in-disease
#9
Sarah Moyon, Patrizia Casaccia
Oligodendrocyte progenitor cells (OPC) are the myelinating cells of the central nervous system (CNS). During development, they differentiate into mature oligodendrocytes (OL) and ensheath axons, providing trophic and functional support to the neurons. This process is regulated by the dynamic expression of specific transcription factors, which, in turn, is controlled by epigenetic marks such as DNA methylation. Here we discuss recent findings showing that DNA methylation levels are differentially regulated in the oligodendrocyte lineage during developmental myelination, affecting both genes expression and alternative splicing events...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28199447/population-structure-and-genetic-diversity-of-the-giant-anteater-myrmecophaga-tridactyla-myrmecophagidae-pilosa-in-brazil
#10
Camila L Clozato, Flávia R Miranda, Paula Lara-Ruiz, Rosane G Collevatti, Fabrício R Santos
The giant anteater (Myrmecophaga tridactyla, Pilosa, Linnaeus 1758) belongs to the mammalian order Pilosa and presents a large distribution along South America, occupying a great variety of habitats. It is listed in the IUCN Red List of threatened species as Vulnerable. Despite threatened, there is a lack of studies regarding its genetic variability. The aim of this study was to examine the genetic diversity and patterns of genetic structure within remaining populations. We analyzed 77 individuals from seven different populations distributed in four biomes across Brazil: Cerrado, Pantanal, Atlantic Forest and Amazon Forest...
February 13, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28195981/clinical-features-in-a-case-of-occult-macular-dystrophy-with-rp1l1-mutation
#11
Yun Fu, Kuan-Jen Chen, Chi-Chun Lai, Wei-Chi Wu, Nan-Kai Wang
PURPOSE: To investigate appropriate diagnostic testing for occult macular dystrophy (OMD) in a patient with unexplained progressive visual loss. METHODS: Observational case report. RESULTS: Occult macular dystrophy is an uncommon autosomal dominant macular disease, but sporadic occurrences have been noted. We report a patient with progressive visual decline, but with normal findings in fundus photography, visual field, fluorescein angiography, and full-field standard electroretinography...
February 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28195350/overcoming-the-divide-between-ataxias-and-spastic-paraplegias-shared-phenotypes-genes-and-pathways
#12
REVIEW
Matthis Synofzik, Rebecca Schüle
Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largely frames clinical thinking and genetic workup in clinical practice. Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system. Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classification system have now been shown to cause ataxia on the one end of the disease continuum and hereditary spastic paraplegia on the other...
February 14, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28194152/hsp65-producing-lactococcus-lactis-prevents-inflammatory-intestinal-disease-in-mice-by-il-10-and-tlr2-dependent-pathways
#13
Ana Cristina Gomes-Santos, Rafael Pires de Oliveira, Thaís Garcias Moreira, Archimedes Barbosa Castro-Junior, Bernardo Coelho Horta, Luísa Lemos, Leonardo Augusto de Almeida, Rafael Machado Rezende, Denise Carmona Cara, Sérgio Costa Oliveira, Vasco Ariston Carvalho Azevedo, Anderson Miyoshi, Ana Maria Caetano Faria
Heat shock proteins (Hsps) are highly expressed at all sites of inflammation. As they are ubiquitous and immunodominant antigens, these molecules represent good candidates for the therapeutic use of oral tolerance in autoimmune and chronic inflammatory diseases. Evidences from human and animal studies indicate that inflammatory bowel disease (IBD) results from uncontrolled inflammatory responses to intestinal microbiota. Hsps are immunodominant proteins expressed by several immune cells and by commensal bacteria...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28194132/molecular-imaging-markers-to-track-huntington-s-disease-pathology
#14
REVIEW
Heather Wilson, Rosa De Micco, Flavia Niccolini, Marios Politis
Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28194008/genetic-otx2-mis-localization-delays-critical-period-plasticity-across-brain-regions
#15
H H C Lee, C Bernard, Z Ye, D Acampora, A Simeone, A Prochiantz, A A Di Nardo, T K Hensch
Accumulation of non-cell autonomous Otx2 homeoprotein in postnatal mouse visual cortex (V1) has been implicated in both the onset and closure of critical period (CP) plasticity. Here, we show that a genetic point mutation in the glycosaminoglycan recognition motif of Otx2 broadly delays the maturation of pivotal parvalbumin-positive (PV+) interneurons not only in V1 but also in the primary auditory (A1) and medial prefrontal cortex (mPFC). Consequently, not only visual, but also auditory plasticity is delayed, including the experience-dependent expansion of tonotopic maps in A1 and the acquisition of acoustic preferences in mPFC, which mitigates anxious behavior...
February 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28193118/validation-of-polymerase-chain-reaction-based-assay-to-detect-actual-number-of-cgg-repeats-in-fmr1-gene-in-indian-fragile-x-syndrome-patients
#16
Madhumita Roy Chowdhury, Sandeepa Chauhan, Anjali Dabral, B K Thelma, Neerja Gupta, Madhulika Kabra
Molecular genetic testing for fragile X (FX) is complicated due to the large variation in the size of CGG expansion. The aim of this study was to apply this new technique using AmplideX FMR1 PCR assay, which is considered a better diagnostic tool for detecting expanded alleles in Indian population. The primary objective was to identify the carrier status of females and to correlate the instability of premutation alleles in females with the repeat sizes. 24 children with FX based on rapid PCR and 29 female relatives of these patients were included...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28192410/an-orthogonalized-platform-for-genetic-code-expansion-in-both-bacteria-and-eukaryotes
#17
James S Italia, Partha Sarathi Addy, Chester J J Wrobel, Lisa A Crawford, Marc J Lajoie, Yunan Zheng, Abhishek Chatterjee
In this study, we demonstrate the feasibility of expanding the genetic code of Escherichia coli using its own tryptophanyl-tRNA synthetase and tRNA (TrpRS-tRNA(Trp)) pair. This was made possible by first functionally replacing this endogenous pair with an E. coli-optimized counterpart from Saccharomyces cerevisiae, and then reintroducing the liberated E. coli TrpRS-tRNA(Trp) pair into the resulting strain as a nonsense suppressor, which was then followed by its directed evolution to genetically encode several new unnatural amino acids (UAAs)...
February 13, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28191758/preclinical-analysis-of-fetal-human-mesencephalic-neural-progenitor-cell-lines-characterization-and-safety-in-vitro-and-in-vivo
#18
Jisook Moon, Sigrid C Schwarz, Hyun-Seob Lee, Jun Mo Kang, Young-Eun Lee, Bona Kim, Mi-Young Sung, Günter Höglinger, Florian Wegner, Jin Su Kim, Hyung-Min Chung, Sung Woon Chang, Kwang Yul Cha, Kwang-Soo Kim, Johannes Schwarz
We have developed a good manufacturing practice for long-term cultivation of fetal human midbrain-derived neural progenitor cells. The generation of human dopaminergic neurons may serve as a tool of either restorative cell therapies or cellular models, particularly as a reference for phenotyping region-specific human neural stem cell lines such as human embryonic stem cells and human inducible pluripotent stem cells. We cultivated 3 different midbrain neural progenitor lines at 10, 12, and 14 weeks of gestation for more than a year and characterized them in great detail, as well as in comparison with Lund mesencephalic cells...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28190779/lentiviral-transfer-of-%C3%AE-globin-with-fusion-gene-nup98-hoxa10hd-expands-hematopoietic-stem-cells-and-ameliorates-murine-%C3%AE-thalassemia
#19
Hui Fen Zhao, Allistair Abraham, Yoon-Sang Kim, Yong-Dong Wang, Tamara Pestina, Jun Zhan, Keith Humphries, Arthur W Nienhuis, Derek A Persons
Recently, an engineered Homeobox-nucleoporin fusion gene, NUP98-HOXA10HD or NA10HD, was reported to expand and maintain murine hematopoietic stem cells (HSCs). We postulated that NA10HD would increase the number of human γ-globin-expressing cells to therapeutic levels. We developed a double gene lentiviral vector encoding both human γ-globin and NA10HD, which was used to transduce human peripheral blood CD34(+) cells and increased engraftment 2- to 2.5-fold at 15 weeks post-transplantation in immunodeficient mice...
February 9, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28190498/classification-of-involuntary-movements-in-dogs-paroxysmal-dyskinesias
#20
REVIEW
Mark Lowrie, Laurent Garosi
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies...
February 2017: Veterinary Journal
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