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https://www.readbyqxmd.com/read/28575650/defects-in-the-cell-signaling-mediator-%C3%AE-catenin-cause-the-retinal-vascular-condition-fevr
#1
Evangelia S Panagiotou, Carla Sanjurjo Soriano, James A Poulter, Emma C Lord, Denisa Dzulova, Hiroyuki Kondo, Atsushi Hiyoshi, Brian Hon-Yin Chung, Yoyo Wing-Yiu Chu, Connie H Y Lai, Mark E Tafoya, Dyah Karjosukarso, Rob W J Collin, Joanne Topping, Louise M Downey, Manir Ali, Chris F Inglehearn, Carmel Toomes
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half of all FEVR-affected case subjects do not harbor mutations in these genes, indicating that further mutated genes remain to be identified...
June 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28529709/last-rolls-of-the-yoyo-assessing-the-human-canonical-protein-count
#2
REVIEW
Christopher Southan
In 2004, when the protein estimate from the finished human genome was only 24,000, the surprise was compounded as reviewed estimates fell to 19,000 by 2014. However, variability in the total canonical protein counts (i.e. excluding alternative splice forms) of open reading frames (ORFs) in different annotation portals persists. This work assesses these differences and possible causes. A 16-year analysis of Ensembl and UniProtKB/Swiss-Prot shows convergence to a protein number of ~20,000. The former had shown some yo-yoing, but both have now plateaued...
2017: F1000Research
https://www.readbyqxmd.com/read/28496410/clinical-applications-of-iso-inertial-eccentric-overload-yoyo%C3%A2-resistance-exercise
#3
REVIEW
Per A Tesch, Rodrigo Fernandez-Gonzalo, Tommy R Lundberg
In the quest for a viable non-gravity dependent method to "lift weights" in space, our laboratory introduced iso-inertial resistance (YoYo™) exercise using spinning flywheel(s), more than 25 years ago. After being thoroughly tested in individuals subjected to various established spaceflight analogs, a multi-mode YoYo™ exercise apparatus was eventually installed on the International Space Station in 2009. The method, applicable to any muscle group, provides accommodated resistance and optimal muscle loading through the full range of motion of concentric actions, and brief episodes of eccentric overload...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28494172/an-investigation-of-clear-speech-effects-on-articulatory-kinematics-in-talkers-with-als
#4
Mili Kuruvilla-Dugdale, Miguel Chuquilin-Arista
Amyotrophic lateral sclerosis (ALS) affects the speech motor system and causes a substantial decline in intelligibility. Clear speech strategies have been found to benefit intelligibility in talkers with dysarthria and the purpose of this study was to examine clear speech effects on tongue, lip, and jaw movements in persons with ALS and healthy controls. For this purpose, participants produced 10 repetitions of the sentence 'I owe you a yoyo' using both habitual and clear speech. Movement variability as well as maximum speed, range, and duration of movement of the articulators were obtained for both conditions...
May 11, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28462570/anthropometric-and-performance-characteristics-of-the-german-rugby-union-7s-team
#5
Erich Hohenauer, Alfred M Rucker, Peter Clarys, Ursula M Küng, Rahel Stoop, Ron Clijsen
BACKGROUND: Somatotyping is advantageous in sports for the optimal development of performance level and injury prevention. The aim of this study was to describe the anthropometric and physical performance characteristics of the German national rugby union 7s team. Seventeen male rugby players, classified as forwards (n=9; 24.2±2.1 years) and backs (n=8; 24.3±5.05 years) were assessed. METHODS: Anthropometric measurements included: body height, weight, height to weight ratio (H/W), five skinfolds, biepicondylar humerus and femur breadth, upper arm- and calf girth, estimated lower body fat percentage and determination of the individual and mean somatotype...
April 28, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28383916/single-molecule-catch-and-release-potential-dependent-plasmid-dna-adsorption-along-chemically-graded-electrode-surfaces
#6
Zi Li, Kayesh M Ashraf, Maryanne M Collinson, Daniel A Higgins
Single molecule detection methods were employed to study the potential dependent adsorption and desorption of dye labeled plasmid DNA along chemical gradients prepared on indium tin oxide (ITO) electrodes. Gradients were formed over silica-base-layer-coated ITO surfaces by exposing them in a directional fashion to aminopropyltrimethoxysilane from the vapor phase. Sessile drop water contact angle measurements, spectroscopic ellipsometry, and X-ray photoelectron spectroscopy were used to verify that a gradient was formed and to characterize its wettability, thickness, and composition as a function of position...
April 6, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28381280/influence-of-feedback-characteristics-on-perceived-learning-value-of-feedback-in-clerkships-does-culture-matter
#7
Yoyo Suhoyo, Elisabeth A Van Hell, Wouter Kerdijk, Ova Emilia, Johanna Schönrock-Adema, Jan B M Kuks, Janke Cohen-Schotanus
BACKGROUND: Various feedback characteristics have been suggested to positively influence student learning. It is not clear how these feedback characteristics contribute to students' perceived learning value of feedback in cultures classified low on the cultural dimension of individualism and high on power distance. This study was conducted to validate the influence of five feedback characteristics on students' perceived learning value of feedback in an Indonesian clerkship context. METHODS: We asked clerks in Neurology (n = 169) and Internal Medicine (n = 132) to assess on a 5-point Likert scale the learning value of the feedback they received...
April 5, 2017: BMC Medical Education
https://www.readbyqxmd.com/read/28362164/determination-of-restriction-enzyme-activity-when-cutting-dna-labeled-with-the-toto-dye-family
#8
April Maschmann, Kristy L Kounovsky-Shafer
Optical mapping, a single DNA molecule genome analysis platform that can determine methylation profiles, uses fluorescently labeled DNA molecules that are elongated on the surface and digested with a restriction enzyme to produce a barcode of that molecule. Understanding how the cyanine fluorochromes affect enzyme activity can lead to other fluorochromes used in the optical mapping system. The effects of restriction digestion on fluorochrome labeled DNA (Ethidium Bromide, DAPI, H33258, EthD-1, TOTO-1) have been analyzed previously...
June 3, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28328122/a-novel-patient-with-an-attenuated-costello-syndrome-phenotype-due-to-an-hras-mutation-affecting-codon-146-literature-review-and-update
#9
Annie Ting Gee Chiu, Gordon Ka-Chun Leung, Yoyo Wing-Yiu Chu, Karen W Gripp, Brian Hon-Yin Chung
De novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in <1% of patients with Costello syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28116329/cftr-founder-mutation-causes-protein-trafficking-defects-in-chinese-patients-with-cystic-fibrosis
#10
Gordon K C Leung, Dingge Ying, Christopher C Y Mak, Xin-Ying Chen, Weiyi Xu, Kit-San Yeung, Wai-Lap Wong, Yoyo W Y Chu, Gary T K Mok, Christy S K Chau, Jenna McLuskey, Winnie P T Ong, Huey-Yin Leong, Kelvin Y K Chan, Wanling Yang, Jeng-Haur Chen, Albert M Li, Pak C Sham, Yu-Lung Lau, Brian H Y Chung, So-Lun Lee
BACKGROUND: Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation. METHOD: Using our in-house next-generation sequencing (NGS) pipeline for childhood bronchiectasis, we identified disease-causing CFTR mutations in CF patients in Hong Kong. After identifying p.I1023R in multiple patients, haplotype analysis was performed with genome-wide microarray to ascertain the likelihood of this being a founder mutation...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28105400/discovery-of-a-novel-sn-ii-based-oxide-%C3%AE-snmoo4-for-daylight-driven-photocatalysis
#11
Hiroyuki Hayashi, Shota Katayama, Takahiro Komura, Yoyo Hinuma, Tomoyasu Yokoyama, Ko Mibu, Fumiyasu Oba, Isao Tanaka
Daylight-driven photocatalysts have attracted much attention in the context of "green" technology. Although various active materials have been reported and their applications are rapidly increasing, many are discovered after enormous experimental efforts. Herein the discovery of a novel oxide photocatalyst, β-SnMoO4, is demonstrated via a rational search of 3483 known and hypothetical compounds with various compositions and structures over the whole range of SnO-MO q/2 (M: Ti, Zr, and Hf (q = 4); V, Nb, and Ta (q = 5); Cr, Mo, and W (q = 6)) pseudobinary systems...
January 2017: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/28008136/how-does-feedback-in-mini-cex-affect-students-learning-response
#12
Sulistiawati Sudarso, Gandes Retno Rahayu, Yoyo Suhoyo
Objective: This study was aimed to explore students' learning response toward feedback during mini-CEX encounter. Methods: This study used a phenomenological approach to identify the students' experiences toward feedback during mini-CEX encounter. Data was collected using Focus Group Discussion (FGD) for all students who were in their final week of clerkship in the internal medicine rotation. There were 4 FGD groups (6 students for each group). All FGD were audio-taped and transcribed verbatim...
December 19, 2016: International Journal of Medical Education
https://www.readbyqxmd.com/read/27957521/dataset-of-the-absorption-emission-and-excitation-spectra-and-fluorescence-intensity-graphs-of-fluorescent-cyanine-dyes-for-the-quantification-of-low-amounts-of-dsdna
#13
Brigitte Bruijns, Roald Tiggelaar, Han Gardeniers
This article describes data related to a research article entitled "Fluorescent cyanine dyes for the quantification of low amounts of dsDNA" (B. Bruijns, R. Tiggelaar, J. Gardeniers, 2016) [1]. Six cyanine dsDNA dyes - EvaGreen, SYBR Green, PicoGreen, AccuClear, AccuBlue NextGen and YOYO-1 - are investigated and in this article the absorption spectra, as well as excitation and emission spectra, for all six researched cyanine dyes are given, all recorded under exactly identical experimental conditions. The intensity graphs, with the relative fluorescence in the presence of low amounts of dsDNA, are also provided...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/27820726/%C3%AE-hydroxy-%C3%AE-methylbutyrate-hmb-supplementation-effects-on-body-mass-and-performance-in-elite-male-rugby-union-players
#14
Nicholas D McIntosh, Thomas D Love, Jillian Haszard, Hamish Osborne, Katherine E Black
Pre-season is characterized by high training volumes with short recovery periods β-hydroxy β-methylbutyrate (HMB) has been postulated to assist with recovery. HMB has been shown to improve strength and body composition amongst untrained groups the benefits of HMB amongst trained populations are unclear due to the methodologies employed. This randomized control trail determined the effects of 11 weeks HMB supplementation on body mass and performance measures in 27 elite rugby players. HMB group (n=13) mean±SD age 20...
October 27, 2016: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/27770039/a-critical-role-for-extracellular-dna-in-dental-plaque-formation
#15
N Rostami, R C Shields, S A Yassin, A R Hawkins, L Bowen, T L Luo, A H Rickard, R Holliday, P M Preshaw, N S Jakubovics
Extracellular DNA (eDNA) has been identified in the matrix of many different monospecies biofilms in vitro, including some of those produced by oral bacteria. In many cases, eDNA stabilizes the structure of monospecies biofilms. Here, the authors aimed to determine whether eDNA is an important component of natural, mixed-species oral biofilms, such as plaque on natural teeth or dental implants. To visualize eDNA in oral biofilms, approaches for fluorescently stained eDNA with either anti-DNA antibodies or an ultrasensitive cell-impermeant dye, YOYO-1, were first developed using Enterococcus faecalis, an organism that has previously been shown to produce extensive eDNA structures within biofilms...
February 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/27767294/manipulating-and-visualizing-molecular-interactions-in-customized-nanoscale-spaces
#16
Gil Henkin, Daniel Berard, Francis Stabile, Marjan Shayegan, Jason S Leith, Sabrina R Leslie
We present a dynamically adjustable nanofluidic platform for formatting the conformations of and visualizing the interaction kinetics between biomolecules in solution, offering new time resolution and control of the reaction processes. This platform extends convex lens-induced confinement (CLiC), a technique for imaging molecules under confinement, by introducing a system for in situ modification of the chemical environment; this system uses a deep microchannel to diffusively exchange reagents within the nanoscale imaging region, whose height is fixed by a nanopost array...
November 15, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/27762026/a-national-collaboration-to-improve-osce-delivery
#17
Yoyo Suhoyo, Gandes R Rahayu, Nani Cahyani
No abstract text is available yet for this article.
November 2016: Medical Education
https://www.readbyqxmd.com/read/27760348/nanomechanics-of-fluorescent-dna-dyes-on-dna-investigated-by-magnetic-tweezers
#18
Ying Wang, Andy Sischka, Volker Walhorn, Katja Tönsing, Dario Anselmetti
Fluorescent DNA dyes are broadly used in many biotechnological applications for detecting and imaging DNA in cells and gels. Their binding alters the structural and nanomechanical properties of DNA and affects the biological processes that are associated with it. Although interaction modes like intercalation and minor groove binding already have been identified, associated mechanic effects like local elongation, unwinding, and softening of the DNA often remain in question. We used magnetic tweezers to quantitatively investigate the impact of three DNA-binding dyes (YOYO-1, DAPI, and DRAQ5) in a concentration-dependent manner...
October 18, 2016: Biophysical Journal
https://www.readbyqxmd.com/read/27631272/attention-during-functional-tasks-is-associated-with-motor-performance-in-children-with-developmental-coordination-disorder-a-cross-sectional-study
#19
Shirley S M Fong, Joanne W Y Chung, Yoyo T Y Cheng, Timothy T T Yam, Hsiu-Ching Chiu, Daniel Y T Fong, C Y Cheung, Lily Yuen, Esther Y T Yu, Yeung Sam Hung, Duncan J Macfarlane, Shamay S M Ng
This cross-sectional and exploratory study aimed to compare motor performance and electroencephalographic (EEG) attention levels in children with developmental coordination disorder (DCD) and those with typical development, and determine the relationship between motor performance and the real-time EEG attention level in children with DCD.Eighty-six children with DCD [DCD: n = 57; DCD and attention deficit hyperactivity disorder (ADHD): n = 29] and 99 children with typical development were recruited...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27541167/molecular-combing-of-%C3%AE-dna-using-self-propelled-water-droplets-on-wettability-gradient-surfaces
#20
Dipak Giri, Zi Li, Kayesh M Ashraf, Maryanne M Collinson, Daniel A Higgins
Surface wettability gradients were used to elongate and align double stranded λ-DNA. Gradients were prepared by vapor phase deposition of octyltrichlorosilane (C8-silane) and fluorinated octyltrichlorosilane (F-silane) precursors. Gradient formation was confirmed by water contact angle and ellipsometric film thickness measurements. Placement of a droplet of aqueous DNA solution on the hydrophobic end of each gradient led to spontaneous motion of the droplet toward the hydrophilic end and deposition of the DNA...
September 14, 2016: ACS Applied Materials & Interfaces
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