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Bharat Bhushan Sharma et al.
Indian journal of experimental biology, 52(10), 1011-1016 (2014-10-28)
DNA from molted feathers is being increasingly used for genetic studies on birds. However, the DNA obtained from such non-invasive sources is often not of enough quantity and quality for isolation of new microsatellite markers. The present study examined the...
A new kind of inheritance.
Michael K Skinner
Scientific American, 311(2), 44-51 (2014-08-07)
A S Levina et al.
Bioorganicheskaia khimiia, 39(1), 87-98 (2013-07-13)
Methods of noncovalent immobilization of DNA fragments onto titanium dioxide nanoparticles (TiO2) were developed, which led to TiO2-DNA nanocomposites capable of penetrating through cell membranes. TiO2 nanoparticles of different forms (amorphous, anatase, brookit) with enhanced agglomeration stability were synthesized. The...
V A Korneva et al.
Kardiologiia, 53(5), 50-54 (2013-08-21)
Novel mutation p. FsS65:D129X in human low density lipoprotein receptor gene in a female patient with typical clinical symptoms of familial hypercholesterolemia is described in this paper. Segregation of this mutation with hypercholesterolemia in the family of the patient from...
Teruaki Iyama et al.
Nucleic acids research, 43(1), 247-258 (2014-12-17)
Cockayne syndrome (CS) is a premature aging disorder characterized by photosensitivity, impaired development and multisystem progressive degeneration, and consists of two strict complementation groups, A and B. Using a yeast two-hybrid approach, we identified the 5'-3' exonuclease SNM1A as one...
Cell-free fetal DNA--a trigger for parturition.
Mark Phillippe
The New England journal of medicine, 370(26), 2534-2536 (2014-06-26)
Chengzu Long et al.
Science (New York, N.Y.), 345(6201), 1184-1188 (2014-08-16)
Duchenne muscular dystrophy (DMD) is an inherited X-linked disease caused by mutations in the gene encoding dystrophin, a protein required for muscle fiber integrity. DMD is characterized by progressive muscle weakness and a shortened life span, and there is no...
Hideharu Hashimoto et al.
Nature, 506(7488), 391-395 (2014-01-07)
Cytosine residues in mammalian DNA occur in five forms: cytosine (C), 5-methylcytosine (5mC), 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC). The ten-eleven translocation (Tet) dioxygenases convert 5mC to 5hmC, 5fC and 5caC in three consecutive, Fe(II)- and α-ketoglutarate-dependent oxidation reactions....
Robert J Macfarlane et al.
Science (New York, N.Y.), 341(6151), 1222-1225 (2013-08-24)
The directed assembly of nanoparticle building blocks is a promising method for generating sophisticated three-dimensional materials by design. In this work, we have used DNA linkers to synthesize nanoparticle superlattices that have greater complexity than simple binary systems using the...
Linus Girdland Flink et al.
Proceedings of the National Academy of Sciences of the United States of America, 111(17), 6184-6189 (2014-04-23)
Modern domestic plants and animals are subject to human-driven selection for desired phenotypic traits and behavior. Large-scale genetic studies of modern domestic populations and their wild relatives have revealed not only the genetic mechanisms underlying specific phenotypic traits, but also...
Ofelia M Noceti et al.
Clinical chemistry, 60(10), 1336-1345 (2014-08-22)
Although therapeutic drug monitoring has improved the clinical use of immunosuppressive drugs, there is still interpatient variability in efficacy and toxicity that pharmacodynamic monitoring may help to reduce. To select the best biomarkers of tacrolimus pharmacodynamics, we explored the strength...
Evolution. Diverse crystals account for beetle sheen.
Elizabeth Pennisi
Science (New York, N.Y.), 341(6142), 120-120 (2013-07-13)
Jarrod A Call et al.
Circulation. Heart failure, 8(1), 188-197 (2014-12-17)
Exercise training enhances extracellular superoxide dismutase (EcSOD) expression in skeletal muscle and elicits positive health outcomes in individuals with diabetes mellitus. The goal of this study was to determine if enhanced skeletal muscle expression of EcSOD is sufficient to mitigate...
Protein nanopores to detect DNA methylation.
Natalie de Souza
Nature methods, 11(1), 8-8 (2014-02-14)
Nicola Carboni et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 32(1), 7-17 (2013-07-16)
Mutations on the LMNA gene are responsible for an heterogeneous group of diseases. Overlapping syndromes related to LMNA gene alterations have been extensively reported. Study scope is to perform a systematic analysis of the overlapping syndromes so far described and...
Alexandre Rodrigues-Correia et al.
Organic letters, 16(19), 5128-5131 (2014-09-19)
The synthesis and use of the new nucleobase-caged nucleotides dT(pHP) and dT(NDEACM) is reported. Through a combination of time and wavelength selectivity four levels of selective uncaging with only two cages, and only two wavelengths, were obtained. The new residue...
Artur V Cideciyan et al.
Investigative ophthalmology & visual science, 56(1), 526-537 (2014-12-30)
The purpose of this study was to evaluate fixation location and oculomotor characteristics of 15 patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations (RPE65-LCA) who underwent retinal gene therapy. Eye movements were quantified under infrared imaging of the...
Ancient DNA. Indo-European languages tied to herders.
Michael Balter et al.
Science (New York, N.Y.), 347(6224), 814-815 (2015-02-24)
B Shapiro et al.
Science (New York, N.Y.), 343(6169), 1236573-1236573 (2014-01-25)
The publication of partial and complete paleogenomes within the last few years has reinvigorated research in ancient DNA. No longer limited to short fragments of mitochondrial DNA, inference of evolutionary processes through time can now be investigated from genome-wide data...
Arnaud Obri et al.
Nature, 505(7485), 648-653 (2014-01-28)
H2A.Z is an essential histone variant implicated in the regulation of key nuclear events. However, the metazoan chaperones responsible for H2A.Z deposition and its removal from chromatin remain unknown. Here we report the identification and characterization of the human protein...
Pantelis S Karatzas et al.
Medicine, 93(28), e309-e309 (2014-12-20)
The contribution of epigenetic alterations to disease pathogenesis is emerging as a research priority. In this study, we aimed to seek DNA methylation changes in peripheral blood and tissue biopsies from patients with inflammatory bowel disease. The promoter methylation status...
Kieren J Mitchell et al.
Science (New York, N.Y.), 344(6186), 898-900 (2014-05-24)
The evolution of the ratite birds has been widely attributed to vicariant speciation, driven by the Cretaceous breakup of the supercontinent Gondwana. The early isolation of Africa and Madagascar implies that the ostrich and extinct Madagascan elephant birds (Aepyornithidae) should...
Xin Cai et al.
Molecular cell, 54(2), 289-296 (2014-04-29)
The innate immune system deploys a variety of sensors to detect signs of infection. Nucleic acids represent a major class of pathogen signatures that can trigger robust immune responses. The presence of DNA in the cytoplasm of mammalian cells is...
Zhi-Hua Li et al.
Ecotoxicology and environmental safety, 109, 10-14 (2014-08-19)
The effect of long-term exposure to tributyltin (TBT) on the intestine-related biochemical biomarkers in common carp was investigated in this study. Fish were exposed at sub-lethal concentrations of TBT (75 ng/L, 0.75 and 7.5 μg/L) for 60 days. Multiple biomarkers...
Hui Y Xiong et al.
Science (New York, N.Y.), 347(6218), 1254806-1254806 (2014-12-20)
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intronic and exonic variants revealed widespread patterns of...
Piero Stratta et al.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 29(10), 1902-1909 (2014-08-12)
Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). The aim of this study was to analyse...
Louise R A Olde Nordkamp et al.
The American journal of cardiology, 114(8), 1223-1228 (2014-09-01)
Unaffected long-QT syndrome family members (FMs) frequently experience syncope. The aims of this study were to test the hypothesis that syncope events in FMs are benign events and to compare clinical characteristics, triggers eliciting the syncope events, and long-term outcomes...
Henrique Lemos et al.
European journal of immunology, 44(10), 2847-2853 (2014-08-22)
DNA is immunogenic and many cells express cytosolic DNA sensors that activate the stimulator of interferon genes (STING) adaptor to trigger interferon type I (IFN-β) release, a potent immune activator. DNA sensing to induce IFN-β triggers host immunity to pathogens...
Cell-free DNA screening for trisomy is rolled out in Israel.
Anna Petherick
Lancet (London, England), 382(9895), 846-846 (2013-09-11)
Rosaiah Kotikalapudi et al.
Pakistan journal of biological sciences : PJBS, 16(23), 1823-1825 (2014-02-11)
The aim of the study is to standardize the simple method for extracting DNA from cells fixed in fixative (3:1 ratio of methanol and acetic acid glacial) mostly used for chromosomal studies in cattle and buffaloes. These fixed cells were...
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