keyword
MENU ▼
Read by QxMD icon Read
search

FUS

keyword
https://www.readbyqxmd.com/read/28108880/unusual-signal-patterns-of-break-apart-fish-probes-used-in-the-diagnosis-of-soft-tissue-sarcomas
#1
Gergő Papp, Dóra Mihály, Zoltán Sápi
Break-apart FISH probes are the most popular and reliable type of FISH probes used to confirm certain pathological diagnoses. The interpretation is usually easy, however, in some instances it is not so unequivocal. Our aim was to reveal and elucidate the problems occurring in the process of evaluation of the break-apart probe results. Altogether 301 soft tissue sarcomas with confirmed molecular tests using break-apart probes were assessed to reveal the frequency and type of unusual signal pattern. Among 89 synovial sarcoma (SS18) 11%, 12 alveolar rhabdomyosarcoma (FOXO1) 50%, 53 myxoid liposarcoma (DDIT3) 7...
January 20, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28106655/transurethral-polyacrylamide-hydrogel-injection-therapy-in-women-not-eligible-for-midurethral-sling-surgery
#2
Daniel Altman, Francesca Ghilotti, Rino Bellocco, Jan Zetterström, Helena Kopp Kallner
OBJECTIVES: This study aims to determine the effects of transurethral polyacrylamide hydrogel injection in patients considered ineligible for midurethral sling surgery. METHODS: In this prospective observational study, 81 patients received treatment with transurethral polyacrylamide hydrogel injection. Patients were considered ineligible for placement of a midurethral sling based on significant comorbidity (48%), 1 or more previously failed invasive treatments (16%), mixed urinary incontinence (27%), continuous incontinence (5%), or previous pelvic radiation therapy (4%)...
January 18, 2017: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/28105640/the-genotype-phenotype-landscape-of-familial-amyotrophic-lateral-sclerosis-in-australia
#3
Emily P McCann, Kelly L Williams, Jennifer A Fifita, Ingrid S Tarr, Jody O'Connor, Dominic B Rowe, Garth A Nicholson, Ian P Blair
Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 1013 Australian ALS patients for known ALS mutations by direct sequencing, whole exome sequencing or repeat primed PCR. Age of disease onset and disease duration were used for genotype-phenotype correlations...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#4
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28097642/adrenal-cyst-with-both-m%C3%A3-llerian-and-mesothelial-differentiation-a-clinicopathological-and-immunohistochemical-study-with-implications-for-histogenesis
#5
Łukasz Koperski, Benedykt Szczepankiewicz, Paweł Pihowicz, Łukasz Fus, Ewa Wolińska, Barbara Górnicka
True epithelial-lined cysts are rare forms of adrenal cystic lesions, the pathogenesis of which is still not fully understood. In this report we present a case of an adrenal cyst diagnosed incidentally on imaging in a 31-year-old, previously healthy, obese woman. Due to non-specific hormonal disorders and enlargement of the lesion, a right-sided laparoscopic adrenalectomy was performed. The cyst was lined predominantly by ciliated cuboidal-to-columnar, Müllerian-type epithelium, and focally by flat-to-cuboidal, mesothelium-like lining...
January 18, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28096243/fused-in-sarcoma-neuropathology-in-neurodegenerative-disease
#6
Ian R A Mackenzie, Manuela Neumann
Abnormal intracellular accumulation of the fused in sarcoma (FUS) protein is the characteristic pathological feature of cases of familial amyotrophic lateral sclerosis (ALS) caused by FUS mutations (ALS-FUS) and several uncommon disorders that may present with sporadic frontotemporal dementia (FTLD-FUS). Although these findings provide further support for the concept that ALS and FTD are closely related clinical syndromes with an overlapping molecular basis, important differences in the pathological features and results from experimental models indicate that ALS-FUS and FTLD-FUS have distinct pathogenic mechanisms...
January 17, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28095555/megasessions-for-robotic-hair-restoration
#7
Joa O Carlos Pereira, Joa O Carlos Pereira Filho, Joa O Pedro Cabrera Pereira
A robotic system can select and remove individual hair follicles from the donor area with great precision and without fatigue. This report describes the use of the robotic system in a megasession for hair restoration. Patients were instructed to cut their hair to 1.0 to 1.2 mm before surgery. The robot selected and removed 600 to 800 grafts per hour so the follicular units (FU)s could be transplanted manually to recipient sites. The robot arm consists of a sharp inner punch and a blunt outer punch which together separate FUs from the sur- rounding tissue...
November 1, 2016: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28094300/sequestration-of-prmt1-and-nd1-l-mrna-into-als-linked-fus-mutant-r521c-positive-aggregates-contributes-to-neurite-degeneration-upon-oxidative-stress
#8
Mi-Hee Jun, Hyun-Hee Ryu, Yong-Woo Jun, Tongtong Liu, Yan Li, Chae-Seok Lim, Yong-Seok Lee, Bong-Kiun Kaang, Deok-Jin Jang, Jin-A Lee
Mutations in fused in sarcoma (FUS), a DNA/RNA binding protein, are associated with familial amyotrophic lateral sclerosis (ALS). However, little is known about how ALS-causing mutations alter protein-protein and protein-RNA complexes and contribute to neurodegeneration. In this study, we identified protein arginine methyltransferase 1 (PRMT1) as a protein that more avidly associates with ALS-linked FUS-R521C than with FUS-WT (wild type) or FUS-P525L using co-immunoprecipitation and LC-MS analysis. Abnormal association between FUS-R521C and PRMT1 requires RNA, but not methyltransferase activity...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28072389/suppression-of-c9orf72-rna-repeat-induced-neurotoxicity-by-the-als-associated-rna-binding-protein-zfp106
#9
Barbara Celona, John von Dollen, Sarat C Vatsavayai, Risa Kashima, Jeffrey R Johnson, Amy A Tang, Akiko Hata, Bruce L Miller, Eric J Huang, Nevan J Krogan, William W Seeley, Brian L Black
Expanded GGGGCC repeats in the first intron of the C9orf72 gene represent the most common cause of familial amyotrophic lateral sclerosis (ALS), but the mechanisms underlying repeat-induced disease remain incompletely resolved. One proposed gain-of-function mechanism is that repeat-containing RNA forms aggregates that sequester RNA binding proteins, leading to altered RNA metabolism in motor neurons. Here, we identify the zinc finger protein Zfp106 as a specific GGGGCC RNA repeat-binding protein, and using affinity purification-mass spectrometry, we show that Zfp106 interacts with multiple other RNA binding proteins, including the ALS-associated factors TDP-43 and FUS...
January 10, 2017: ELife
https://www.readbyqxmd.com/read/28057713/genetic-epidemiology-of-amyotrophic-lateral-sclerosis-a-systematic-review-and-meta-analysis
#10
Zhang-Yu Zou, Zhi-Rui Zhou, Chun-Hui Che, Chang-Yun Liu, Rao-Li He, Hua-Pin Huang
BACKGROUND: Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. METHODS: We performed an extensive literature research to identify all original articles reporting frequencies of C9orf72, SOD1, TARDBP and FUS mutations in ALS. The mutation frequency and effect size of each study were combined...
January 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28057298/amyotrophic-lateral-sclerosis-pathogenesis-converges-on-defects-in-protein-homeostasis-associated-with-tdp-43-mislocalization-and-proteasome-mediated-degradation-overload
#11
G Lin, D Mao, H J Bellen
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that affects upper and/or lower motor neurons. It usually affects people between the ages of 40-70. The average life expectancy is about 3-5 years after diagnosis and there is no effective cure available. Identification of variants in more than 20 different loci has provided insight into the pathogenic molecular mechanisms mediating disease pathogenesis. In this review, we focus on seven ALS-causing genes: TDP-43, FUS, C9orf72, VCP, UBQLN2, VAPB and SOD-1, which encompass about 90% of the variants causing familial ALS...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28054830/a-novel-mutation-of-the-c-terminal-amino-acid-of-fus-y526c-strengthens-fus-gene-as-the-most-frequent-genetic-factor-in-aggressive-juvenile-als
#12
Philippe Corcia, Veronique Danel, Arnaud Lacour, Stephane Beltran, Christian Andres, Philippe Couratier, Helene Blasco, Patrick Vourc'h
Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28054357/linking-amyotrophic-lateral-sclerosis-and-spinal-muscular-atrophy-through-rna-transcriptome-homeostasis-a-genomics-perspective
#13
REVIEW
Margarida Gama-Carvalho, Marina L Garcia-Vaquero, Francisco R Pinto, Florence Besse, Joachim Weis, Aaron Voigt, Jörg B Schulz, Javier De Las Rivas
In this review we present our most recent understanding of key biomolecular processes that underlie two motor neuron degenerative disorders, Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). We focus on the role of four multifunctional proteins involved in RNA metabolism (TDP-43, FUS, SMN and Senataxin) that play a causal role in these diseases. Recent results have led to a novel scenario of intricate connections between these four proteins, bringing transcriptome homeostasis into the spotlight as a common theme in motor neuron degeneration...
January 5, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28047798/we-ab-bra-03-non-invasive-controlled-release-from-implantable-hydrogel-scaffolds-using-ultrasound
#14
A Moncion, O D Kripfgans, A J Putnam, R T Frances Chi, M L Fabiilli
PURPOSE: To control release of a model payload in acoustically responsive scaffolds (ARSs) using focused ultrasound (FUS). METHODS: Fluorescently-labeled dextran (10 kDa) was encapsulated in sonosensitive perfluorocarbon (C6 F14 or C5 F12 ) double emulsions (mean diameter: 2.9±0.1 µm). For in vitro release studies, 0.5 mL ARSs (10 mg/mL fibrin, 1% (v/v) emulsion) were polymerized in 24 well plates and covered with 0.5 mL medium. Starting one day after polymerization, ARSs were exposed to FUS (2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047692/we-h-209-01-advances-in-ultrasound-therapy
#15
K Hynynen
: Focused ultrasound has been shown to be the only method that allows noninvasive thermal coagulation of tissues and recently this potential has been explored for image-guided drug delivery. In this presentation, the advances in ultrasound phased array technology for energy delivery, exposure monitoring and control will be discussed. Experimental results from novel multi-frequency transmit/receive arrays will be presented. In addition, the feasibility of fully electronically focused and steered high power arrays with many thousands of transducer elements will be discussed...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046536/we-h-209-00-carson-zagzebski-distinguished-lectureship-image-guided-ultrasound-therapy
#16
Thaddeus Wilson
: Focused ultrasound has been shown to be the only method that allows noninvasive thermal coagulation of tissues and recently this potential has been explored for image-guided drug delivery. In this presentation, the advances in ultrasound phased array technology for energy delivery, exposure monitoring and control will be discussed. Experimental results from novel multi-frequency transmit/receive arrays will be presented. In addition, the feasibility of fully electronically focused and steered high power arrays with many thousands of transducer elements will be discussed...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046379/we-ab-bra-01-biodistribution-of-paclitaxel-loaded-nanodroplets-for-prostate-cancer-management-using-ultrasound-mediated-drug-delivery-under-mrguidance
#17
R Gupta, D Cvetkovic, B Wang, L Chen, C Ma
PURPOSE: To study the biodistribution of paclitaxel-loaded nanodroplets in vivo in order to evaluate the efficacy of focused ultrasound (FUS)-mediated drug delivery under MR-guidance to prostate tumor. METHODS: Poly {ethylene oxide}-co-poly {D, L-lactide} (PDLA) nanodroplets loaded with fluorescently labeled-paclitaxel (F-PTX) were synthesized using solid dispersion technique. Human prostate cancer, LNCaP cells were implanted orthotopically in prostates of male nude mice...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28045902/effects-on-p-glycoprotein-expression-after-blood-brain-barrier-disruption-using-focused-ultrasound-and-microbubbles
#18
Muna Aryal, Krisztina Fischer, Caroline Gentile, Salvatore Gitto, Yong-Zhi Zhang, Nathan McDannold
Many blood-borne substances attempting to pass through the luminal membrane of brain endothelial cells are acted upon by a variety of metabolizing enzymes or are actively expelled back into the capillary lumen by embedded efflux transporters, such as Permeability-glycoprotein (Pgp). Overexpression of this protein has also been linked to multidrug resistance in cancer cells. Previous studies have shown that focused ultrasound (FUS), when combined with a microbubble agent, has ability to temporarily disrupt blood-brain barrier (BBBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28044461/equivalence-of-cell-survival-data-for-radiation-dose-and-thermal-dose-in-ablative-treatments-analysis-applied-to-essential-tremor-thalamotomy-by-focused-ultrasound-and-gamma-knife
#19
D Schlesinger, M Lee, G Ter Haar, B Sela, M Eames, J Snell, N Kassell, J Sheehan, J Larner, J-F Aubry
Thermal dose and absorbed radiation dose have historically been difficult to compare because different biological mechanisms are at work. Thermal dose denatures proteins and the radiation dose causes DNA damage in order to achieve ablation. The purpose of this paper is to use the proportion of cell survival as a potential common unit by which to measure the biological effect of each procedure. Survival curves for both thermal and radiation doses have been extracted from previously published data for three different cell types...
January 3, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28041848/spatiotemporal-control-of-intracellular-phase-transitions-using-light-activated-optodroplets
#20
Yongdae Shin, Joel Berry, Nicole Pannucci, Mikko P Haataja, Jared E Toettcher, Clifford P Brangwynne
Phase transitions driven by intrinsically disordered protein regions (IDRs) have emerged as a ubiquitous mechanism for assembling liquid-like RNA/protein (RNP) bodies and other membrane-less organelles. However, a lack of tools to control intracellular phase transitions limits our ability to understand their role in cell physiology and disease. Here, we introduce an optogenetic platform that uses light to activate IDR-mediated phase transitions in living cells. We use this "optoDroplet" system to study condensed phases driven by the IDRs of various RNP body proteins, including FUS, DDX4, and HNRNPA1...
January 12, 2017: Cell
keyword
keyword
2567
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"