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https://www.readbyqxmd.com/read/28098148/clinical-utility-gene-card-for-non-syndromic-microphthalmia-including-next-generation-sequencing-based-approaches
#1
Rose Richardson, Jane Sowden, Christina Gerth-Kahlert, Anthony T Moore, Mariya Moosajee
No abstract text is available yet for this article.
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28088729/new-insights-into-aox2-transcriptional-regulation-in-chlamydomonas-reinhardtii
#2
Mariya Ostroukhova, Zhanneta Zalutskaya, Elena Ermilova
A feature of the mitochondrial electron transport chain in plants, some protists and many fungi is the presence of two terminal oxidases, the energy-conserving cytochrome oxidase and another termed alternative oxidase (AOX). AOX branches from the main respiratory chain, directly coupling the oxidation of ubiquinol with reduction of oxygen to water. The AOX genes can be divided into two discrete subfamilies, AOX1 and AOX2. Although AOX has been proposed to play essential roles in stress tolerance of organisms, the role of subfamily AOX2 is largely unknown...
December 13, 2016: European Journal of Protistology
https://www.readbyqxmd.com/read/28080107/feasibility-and-adherence-paradigm-to-ecological-momentary-assessments-in-urban-minority-youth
#3
Mariya P Shiyko, Seth Perkins, Linda Caldwell
All adolescents in general, including ethnic and racial minorities, report high levels of cell phone use, making mobile technology a useful tool for assessment and intervention. Known health and education disparities based on minority status motivated us to conduct an in-depth investigation regarding feasibility of and adherence to the ecological momentary assessment (EMA) research protocol, studying daily life of urban minority youth. In addition, this paper presents a methodological approach to conceptualizing and reporting adherence in EMA studies...
January 12, 2017: Psychological Assessment
https://www.readbyqxmd.com/read/28067915/histone-degradation-in-response-to-dna-damage-enhances-chromatin-dynamics-and-recombination-rates
#4
Michael H Hauer, Andrew Seeber, Vijender Singh, Raphael Thierry, Ragna Sack, Assaf Amitai, Mariya Kryzhanovska, Jan Eglinger, David Holcman, Tom Owen-Hughes, Susan M Gasser
Nucleosomes are essential for proper chromatin organization and the maintenance of genome integrity. Histones are post-translationally modified and often evicted at sites of DNA breaks, facilitating the recruitment of repair factors. Whether such chromatin changes are localized or genome-wide is debated. Here we show that cellular levels of histones drop 20-40% in response to DNA damage. This histone loss occurs from chromatin, is proteasome-mediated and requires both the DNA damage checkpoint and the INO80 nucleosome remodeler...
January 9, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28065590/mechanism-and-evidence-of-nonsense-suppression-therapy-for-genetic-eye-disorders
#5
REVIEW
Rose Richardson, Matthew Smart, Dhani Tracey-White, Andrew Webster, Mariya Moosajee
Between 5 and 70% of genetic disease is caused by in-frame nonsense mutations, which introduce a premature termination codon (PTC) within the disease-causing gene. Consequently, during translation, non-functional or gain-of-function truncated proteins of pathological significance, are formed. Approximately 50% of all inherited retinal disorders have been associated with PTCs, highlighting the importance of novel pharmacological or gene correction therapies in ocular disease. Pharmacological nonsense suppression of PTCs could delineate a therapeutic strategy that treats the mutation in a gene- and disease-independent manner...
January 5, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28063595/the-mitochondrial-targeted-peptide-ss-31-improves-glomerular-architecture-in-mice-of-advanced-age
#6
Mariya T Sweetwyne, Jeffrey W Pippin, Diana G Eng, Kelly L Hudkins, Ying Ann Chiao, Matthew D Campbell, David J Marcinek, Charles E Alpers, Hazel H Szeto, Peter S Rabinovitch, Stuart J Shankland
Although age-associated changes in kidney glomerular architecture have been described in mice and man, the mechanisms are unknown. It is unclear if these changes can be prevented or even reversed by systemic therapies administered at advanced age. Using light microscopy and transmission electron microscopy, our results showed glomerulosclerosis with injury to mitochondria in glomerular epithelial cells in mice aged 26 months (equivalent to a 79-year-old human). To test the hypothesis that reducing mitochondrial damage in late age would result in lowered glomerulosclerosis, we administered the mitochondrial targeted peptide, SS-31, to aged mice...
January 4, 2017: Kidney International
https://www.readbyqxmd.com/read/28055099/evaluation-of-therapeutic-tissue-crosslinking-txl-for-myopia-using-second-harmonic-generation-signal-microscopy-in-rabbit-sclera
#7
Mariya Zyablitskaya, Anna Takaoka, Emilia L Munteanu, Takayuki Nagasaki, Stephen L Trokel, David C Paik
Purpose: Second harmonic generation signals (SHG) are emitted preferentially from collagenous tissue structures and have been used to evaluate photochemically-induced (CXL) crosslinking changes in the cornea. Since therapeutic tissue crosslinking (TXL) using sodium hydroxymethylglycinate (SMG) of the sclera is a potential treatment for high myopia, we explored the use of SHG microscopy to evaluate the effects. Methods: Single sub-Tenon's (sT) injections (400 μL) using SMG (40-400 mM) were made at the equatorial 12 o'clock position of the right eye of cadaveric rabbit heads (n = 16 pairs)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28051361/spectral-domain-optical-coherence-tomography-an-in-vivo-imaging-protocol-for-assessing-retinal-morphology-in-adult-zebrafish
#8
Maria Toms, Dhani Tracey-White, Dhakshi Muhundhakumar, Lina Sprogyte, Adam M Dubis, Mariya Moosajee
The present study outlines a protocol for examining retinal structure in zebrafish, a popular model organism for ocular studies, using spectral domain optical coherence tomography (SD-OCT). We demonstrate how this live imaging modality can be used to obtain high quality images of several retinal features, including the optic nerve, retinal vasculature, and the cone photoreceptor mosaic. Retinal histology sections were obtained from imaged fish for comparison with SD-OCT cross-sectional B-scans. Voronoi domain analysis was used to assess cone photoreceptor packing regularity at 3, 6, and 12 months...
January 4, 2017: Zebrafish
https://www.readbyqxmd.com/read/28046045/playing-the-catch-up-game-accelerating-the-scale-up-of-prevention-of-mother-to-child-transmission-of-hiv-pmtct-services-to-eliminate-new-pediatric-hiv-infection-in-nigeria
#9
Edward Adekola Oladele, Hadiza Khamofu, Seun Asala, Mariya Saleh, Uche Ralph-Opara, Charles Nwosisi, Chukwuma Anyaike, Catherine Gana, Oluwasanmi Adedokun, Rebecca Dirks, Olufunsho Adebayo, Modupe Oduwole, Justin Mandala, Kwasi Torpey
INTRODUCTION: As the world is making progress towards elimination of mother-to-child transmission of HIV, poor coverage of PMTCT services in Nigeria remains a major challenge. In order to address this, scale-up was planned with activities organized into 3 phases. This paper describes the process undertaken in eight high burden Nigerian states to rapidly close PMTCT coverage gaps at facility and population levels between February 2013 and March 2014. METHODS: Activities were grouped into three phases-pre-assessment phase (engagement of a wide range of stakeholders), assessment (rapid health facility assessment, a cross sectional survey using mixed methods conducted in the various states between Feb and May 2013 and impact modelling), and post-assessment (drawing up costed state operational plans to achieve eMTCT by 2015, data-driven smart scale-up)...
2017: PloS One
https://www.readbyqxmd.com/read/28024370/encapsulation-of-homogeneous-catalysts-in-porous-polymer-nanocapsules-produces-fast-acting-selective-nanoreactors
#10
Sergey A Dergunov, Alibek T Khabiyev, Sergey N Shmakov, Mariya D Kim, Nasim Ehterami, Mary Clare Weiss, Vladimir B Birman, Eugene Pinkhassik
Nanoreactors were created by entrapping homogeneous catalysts in hollow nanocapsules with 200 nm diameter and semipermeable nanometer-thin shells. The capsules were produced by the polymerization of hydrophobic monomers in the hydrophobic interior of the bilayers of self-assembled surfactant vesicles. Controlled nanopores in the shells of nanocapsules ensured long-term retention of the catalysts coupled with the rapid flow of substrates and products in and out of nanocapsules. The study evaluated the effect of encapsulation on the catalytic activity and stability of five different catalysts...
December 27, 2016: ACS Nano
https://www.readbyqxmd.com/read/28010762/snapshotdx-quiz-january-2017
#11
Katherine Nolan, Mariya Miteva
No abstract text is available yet for this article.
January 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28005927/antiproliferative-and-pro-apoptotic-effects-of-mir-4286-inhibition-in-melanoma-cells
#12
Anna Komina, Nadezhda Palkina, Mariya Aksenenko, Seseg Tsyrenzhapova, Tatiana Ruksha
INTRODUCTION: MicroRNAs are essential regulators of gene expression at the post-transcriptional level. Their expression is altered in cancer tissues, and evaluation of these alterations is considered a promising tool used to diagnose and identify prognostic markers. MATERIALS AND METHODS: The microRNA expression profiles of formalin-fixed, paraffin-embedded melanoma and melanocytic nevi samples were estimated with a microarray and subsequently validated by real-time PCR...
2016: PloS One
https://www.readbyqxmd.com/read/27992411/real-time-shape-approximation-and-fingerprinting-of-single-proteins-using-a-nanopore
#13
Erik C Yusko, Brandon R Bruhn, Olivia M Eggenberger, Jared Houghtaling, Ryan C Rollings, Nathan C Walsh, Santoshi Nandivada, Mariya Pindrus, Adam R Hall, David Sept, Jiali Li, Devendra S Kalonia, Michael Mayer
Established methods for characterizing proteins typically require physical or chemical modification steps or cannot be used to examine individual molecules in solution. Ionic current measurements through electrolyte-filled nanopores can characterize single native proteins in an aqueous environment, but currently offer only limited capabilities. Here we show that the zeptolitre sensing volume of bilayer-coated solid-state nanopores can be used to determine the approximate shape, volume, charge, rotational diffusion coefficient and dipole moment of individual proteins...
December 19, 2016: Nature Nanotechnology
https://www.readbyqxmd.com/read/27986836/diverse-mechanisms-of-metaeffector-activity-in-an-intracellular-bacterial-pathogen-legionella-pneumophila
#14
Malene L Urbanus, Andrew T Quaile, Peter J Stogios, Mariya Morar, Chitong Rao, Rosa Di Leo, Elena Evdokimova, Mandy Lam, Christina Oatway, Marianne E Cuff, Jerzy Osipiuk, Karolina Michalska, Boguslaw P Nocek, Mikko Taipale, Alexei Savchenko, Alexander W Ensminger
Pathogens deliver complex arsenals of translocated effector proteins to host cells during infection, but the extent to which these proteins are regulated once inside the eukaryotic cell remains poorly defined. Among all bacterial pathogens, Legionella pneumophila maintains the largest known set of translocated substrates, delivering over 300 proteins to the host cell via its Type IVB, Icm/Dot translocation system. Backed by a few notable examples of effector-effector regulation in L. pneumophila, we sought to define the extent of this phenomenon through a systematic analysis of effector-effector functional interaction...
December 16, 2016: Molecular Systems Biology
https://www.readbyqxmd.com/read/27984454/nonunion-after-clavicle-osteosynthesis-high-incidence-of-propionibacterium-acnes
#15
Elizabeth B Gausden, Jordan Villa, Stephen J Warner, Mariya Redko, Andrew Pearle, Andy Miller, Michael Henry, Dean G Lorich, David L Helfet, David S Wellman
OBJECTIVE: The objective of this study was to review the etiology of clavicle nonunions following osteosynthesis and investigate the outcomes of a treatment with a single stage revision. DESIGN: Retrospective case series SETTING:: Orthopaedic specialty hospital PATIENTS:: Twenty cases of nonunion following osteosynthesis of the clavicle were identified. The average age was 44 years old (+/- 13 years). In nine cases there was catastrophic implant failure that prompted the revision surgery...
December 8, 2016: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/27957489/hiv-1-epidemiology-genetic-diversity-and-primary-drug-resistance-in-the-tyumen-oblast-russia
#16
Natalya M Gashnikova, Ekaterina M Astakhova, Mariya P Gashnikova, Evgeniy F Bocharov, Svetlana V Petrova, Olga A Pun'ko, Alexander V Popkov, Aleksey V Totmenin
Introduction. Specific molecular epidemic features of HIV infection in Tyumen Oblast (TO), Russia, were studied. Methods. The genome sequences encoding HIV-1 protease-reverse transcriptase, integrase, and major envelope protein were examined for 72 HIV-1 specimens isolated from the TO resident infected in 2000-2015. Results. The recorded prevalence of HIV-1 subtype A (A1) is 93.1%; HIV-1 subtype B continues to circulate in MSM risk group (1.4%). Solitary instances of HIV-1 recombinant forms, CRF63_02A1 (1.4%) and CRF03_AB (1...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27941999/plasmid-complement-of-lactococcus-lactis-ncdo712-reveals-a-novel-pilus-gene-cluster
#17
Mariya Tarazanova, Marke Beerthuyzen, Roland Siezen, Marcela M Fernandez-Gutierrez, Anne de Jong, Sjoerd van der Meulen, Jan Kok, Herwig Bachmann
Lactococcus lactis MG1363 is an important gram-positive model organism. It is a plasmid-free and phage-cured derivative of strain NCDO712. Plasmid-cured strains facilitate studies on molecular biological aspects, but many properties which make L. lactis an important organism in the dairy industry are plasmid encoded. We sequenced the total DNA of strain NCDO712 and, contrary to earlier reports, revealed that the strain carries 6 rather than 5 plasmids. A new 50-kb plasmid, designated pNZ712, encodes functional nisin immunity (nisCIP) and copper resistance (lcoRSABC)...
2016: PloS One
https://www.readbyqxmd.com/read/27932624/allele-rs2010963-c-of-the-vegfa-gene-is-associated-with-the-decreased-risk-of-primary-varicose-veins-in-ethnic-russians
#18
Alexandra S Shadrina, Mariya A Smetanina, Ekaterina A Sokolova, Darya V Shamovskaya, Kseniya S Sevost'ianova, Andrey I Shevela, Evgenii Y Soldatsky, Evgenii I Seliverstov, Marina Y Demekhova, Oleg A Shonov, Evgeny A Ilyukhin, Elena N Voronina, Ilya V Pikalov, Igor A Zolotukhin, Alexander I Kirienko, Maxim L Filipenko
OBJECTIVE: To study the association of polymorphisms rs699947, rs2010963, rs3025039 in the VEGFA gene region and rs1870377, rs2305949, rs2071559 in the VEGFR2 gene region with the risk of primary varicose veins in ethnic Russians. METHODS: Genotypes were determined by real-time PCR allelic discrimination. The case group consisted of 448 patients with primary varicose veins and the control group comprised 609 individuals without a history of chronic venous disease...
December 8, 2016: Phlebology
https://www.readbyqxmd.com/read/27921389/superiority-of-sds-lysis-over-saponin-lysis-for-direct-bacterial-identification-from-positive-blood-culture-bottle-by-maldi-tof-ms
#19
Yvan Caspar, Cécile Garnaud, Mariya Raykova, Sébastien Bailly, Marie Bidart, Danièle Maubon
PURPOSE: Fast species diagnosis has an important health care impact, as rapid and specific antibacterial therapy is of clear benefit for patient's outcome. Here, a new protocol for species identification directly from positive blood cultures is proposed. EXPERIMENTAL DESIGN: Four in-house protocols for bacterial identification by MS directly from clinical positive blood cultures evaluating two lytic agents, SDS and saponin, and two protein extraction schemes, fast (FP) and long (LP) are compared...
December 6, 2016: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/27914761/lactobacillus-iners-friend-or-foe
#20
REVIEW
Mariya I Petrova, Gregor Reid, Mario Vaneechoutte, Sarah Lebeer
The vaginal microbial community is typically characterized by abundant lactobacilli. Lactobacillus iners, a fairly recently detected species, is frequently present in the vaginal niche. However, the role of this species in vaginal health is unclear, since it can be detected in normal conditions as well as during vaginal dysbiosis, such as bacterial vaginosis, a condition characterized by an abnormal increase in bacterial diversity and lack of typical lactobacilli. Compared to other Lactobacillus species, L...
November 30, 2016: Trends in Microbiology
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