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https://www.readbyqxmd.com/read/28523359/arginine-cga-codons-as-a-source-of-nonsense-mutations-a-possible-role-in-multivariant-gene-expression-control-of-mrna-quality-and-aging
#1
Georgy A Romanov, Victor S Sukhoverov
Methylation of cytosine residues in DNA of higher eukaryotes, including humans, creates "hot spots" of C→T transitions in the genome. The predominantly methylated sequence in mammalian DNAs is CG (CpG). Among CG-containing codons, CGA codons for arginine are unique due to their ability to create stop codons TGA (UGA in mRNA) upon epigenetic-mediated mutation. As such nonsense mutations can have a strong adverse effect on the cell and organism, we have performed a study, on the example of human genes, aimed to characterise the anticipated effects of epigenetic-mediated nonsense mutations CGA→TGA in somatic cells...
May 18, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28520769/optimal-method-for-assessment-of-respiratory-muscle-strength-in-neuromuscular-disorders-using-sniff-nasal-inspiratory-pressure-snip
#2
Marta Kaminska, Francine Noel, Basil J Petrof
BACKGROUND: The ability to accurately determine respiratory muscle strength is vitally important in patients with neuromuscular disorders (NMD). Sniff nasal inspiratory pressure (SNIP), a test of inspiratory muscle strength, is easier to perform for many NMD patients than the more commonly used determination of maximum inspiratory pressure measured at the mouth (MIP). However, due to an inconsistent approach in the literature, the optimal technique to perform the SNIP maneuver is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28503708/stress-and-the-nonsense-mediated-rna-decay-pathway
#3
REVIEW
Alexandra E Goetz, Miles Wilkinson
Cells respond to internal and external cellular stressors by activating stress-response pathways that re-establish homeostasis. If homeostasis is not achieved in a timely manner, stress pathways trigger programmed cell death (apoptosis) to preserve organism integrity. A highly conserved stress pathway is the unfolded protein response (UPR), which senses excessive amounts of unfolded proteins in the ER. While a physiologically beneficial pathway, the UPR requires tight regulation to provide a beneficial outcome and avoid deleterious consequences...
May 13, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28490360/stability-and-relative-validity-of-the-neuromuscular-disease-impact-profile-nmdip
#4
Isaäc Bos, Jan B M Kuks, Josué Almansa, Hubertus P H Kremer, Klaske Wynia
BACKGROUND: The aim of this study was to examine the stability and relative validity (RV) of the Neuromuscular Disease Impact Profile (NMDIP) using criterion-related groups. In a previous study the NMDIP-scales showed good internal consistency, convergent and discriminant validity. Known-groups analysis showed that the NMDIP discriminates between categories of extent of limitations. METHODS: A cross-sectional postal survey study was performed on patients diagnosed with a NMD and registered at the Department of Neurology, University Medical Center Groningen, the Netherlands...
May 11, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28484250/maternal-depression-attenuates-newborn-vitamin-d-concentrations-in-winter-spring-a-prospective-population-based-study
#5
Qi-Fan Zhou, Meng-Xiao Zhang, Shi-Lu Tong, Rui-Xue Tao, Jia-Hu Hao, Kun Huang, Fang-Biao Tao, Peng Zhu
We aimed to investigate whether the newborns of mothers with maternal depression (MD) had lower vitamin D levels than newborns of non-MD (NMD) mothers and identify the potential mechanism underlying this association. Maternal depressive symptoms in late pregnancy and concentrations of cord blood 25 hydroxyvitamin D (25(OH)D) were measured in 1491 mother-infant pairs. Data on maternal sociodemographic characteristics, health status, lifestyle and birth outcomes were prospectively collected. For infants born in winter-spring, the infants of MD mothers had significantly reduced concentrations of 25(OH) D (adjusted β = -3...
May 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28479116/assisted-vital-capacity-to-assess-recruitment-level-in-neuromuscular-diseases
#6
Dante B Santos, Aurélien Boré, Lorena Del Amo Castrillo, Matthieu Lacombe, Line Falaize, David Orlikowski, Frédéric Lofaso, Hélène Prigent
Respiratory muscle weakness and chest wall abnormalities in neuromuscular diseases (NMD) may lead to decreased pulmonary volumes. We assessed the reversibility of vital capacity (VC) reduction with mechanical In-Exsufflation (MI-E). We evaluated the effects of positive inspiratory and negative expiratory pressures on spirometric variables under passive (without patients' participation) and active (with active participation) application in 47 NMD patients. VC, inspiratory capacity (IC), expiratory reserve volume (ERV) were measured during maneuvers without and with MI-E assistance, delivering inspiratory assistance (+40cmH2O), expiratory assistance (-40cmH2O) and both (±40cmH2O)...
May 4, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28461625/transcript-specific-characteristics-determine-the-contribution-of-endo-and-exonucleolytic-decay-pathways-during-the-degradation-of-nonsense-mediated-decay-substrates
#7
Franziska Ottens, Volker Boehm, Christopher R Sibley, Jernej Ule, Niels H Gehring
Nonsense-mediated mRNA decay (NMD) controls gene expression by eliminating mRNAs with premature or aberrant translation termination. Degradation of NMD substrates is initiated by the central NMD factor UPF1, which recruits the endonuclease SMG6 and the deadenylation-promoting SMG5/7 complex. The extent to which SMG5/7 and SMG6 contribute to the degradation of individual substrates and their regulation by UPF1 remain elusive. Here we map transcriptome-wide sites of SMG6-mediated endocleavage via 3' fragment capture and degradome sequencing...
May 1, 2017: RNA
https://www.readbyqxmd.com/read/28454348/effects-of-ptcs-on-nonsense-mediated-mrna-decay-are-dependent-on-ptc-location
#8
Heegyum Moon, Xuexiu Zheng, Tiing Jen Loh, Ha Na Jang, Yongchao Liu, Da-Woon Jung, Darren R Williams, Haihong Shen
The récepteur d'origine nantais (RON) gene is a proto-oncogene that is responsible for encoding the human macrophage-stimulating protein (MSP) 1 receptor. MSP activation induces RON-mediated cell dissociation, migration and matrix invasion. Isoforms of RON that exclude exons 5 and 6 encode the RONΔ160 protein, which promotes cell transformation in vitro and tumor metastasis in vivo. Premature termination codons (PTCs) in exons activate the nonsense-mediated mRNA decay (NMD) signaling pathway. The present study demonstrated that PTCs at various locations in the alternative exons 5 and 6 could induce NMD of the majority of the spliced, or partially spliced, isoforms...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28447221/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-onset-alzheimer-s-disease
#9
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, Jan Verheijen, Wouter De Coster, Jasper Van Dongen, Lubina Dillen, Yalda Baradaran-Heravi, Bavo Heeman, Raquel Sanchez-Valle, Albert Lladó, Benedetta Nacmias, Sandro Sorbi, Ellen Gelpi, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Pau Pastor, Sara Ortega-Cubero, Maria A Pastor, Caroline Graff, Håkan Thonberg, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Maria Rosário Almeida, Isabel Santana, Janine Diehl-Schmid, Panagiotis Alexopoulos, Jordi Clarimon, Alberto Lleó, Juan Fortea, Magda Tsolaki, Maria Koutroumani, Radoslav Matěj, Zdenek Rohan, Peter De Deyn, Sebastiaan Engelborghs, Patrick Cras, Christine Van Broeckhoven, Kristel Sleegers
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing...
April 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28444146/nonsense-in-the-testis-multiple-roles-for-nonsense-mediated-decay-revealed-in-male-reproduction
#10
Clinton C MacDonald, Petar N Grozdanov
Nonsense-mediated mRNA decay, or NMD, is a quality control mechanism that identifies cytoplasmic mRNAs containing translational termination (stop) codons in specific contexts - either premature termination codons or unusually long 3΄ untranslated regions - and targets them for degradation. In recent studies, researchers in different labs have knocked out important genes involved in NMD, Upf2 and Upf3a, and one component of chromatoid bodies, Tdrd6, and examined the consequences for spermatogenesis. Disruption of Upf2 during early stages of spermatogenesis resulted in disappearance of nearly all spermatogenic cells through loss of NMD...
April 22, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28440616/discovery-and-characterization-of-a-eukaryotic-initiation-factor-4a-3-selective-inhibitor-that-suppresses-nonsense-mediated-mrna-decay
#11
Misa Iwatani-Yoshihara, Masahiro Ito, Yoshihiro Ishibashi, Hideyuki Oki, Toshio Tanaka, Daisuke Morishita, Takashi Ito, Hiromichi Kimura, Yasuhiro Imaeda, Samuel Aparicio, Atsushi Nakanishi, Tomohiro Kawamoto
Eukaryotic initiation factor 4A-3 (eIF4A3) is an Asp-Glu-Ala-Asp (DEAD) box-family adenosine triphosphate (ATP)-dependent RNA helicase. Subtypes eIF4A1 and eIF4A2 are required for translation initiation, but eIF4A3 participates in the exon junction complex (EJC) and functions in RNA metabolism including nonsense-mediated RNA decay (NMD). No small molecules for NMD inhibition via selective inhibition of eIF4A3 have been discovered. Here, we identified allosteric eIF4A3 inhibitors from a high-throughput screening campaign...
May 10, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28434909/facilitating-orphan-drug-development-proceedings-of-the-treat-nmd-international-conference-december-2015-washington-dc-usa
#12
E P Hoffman
No abstract text is available yet for this article.
March 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28421814/elevated-monocyte-to-high-density-lipoprotein-cholesterol-ratio-and-endothelial-dysfunction-in-beh%C3%A3-et-disease
#13
Nusret Acikgoz, Ertuğrul Kurtoğlu, Julide Yagmur, Yelda Kapicioglu, Mehmet Cansel, Necip Ermis
Behçet disease (BD) is a multisystemic disorder characterized by endothelial dysfunction and inflammation. Monocyte to high-density lipoprotein cholesterol ratio (MHR) is a recently emerged indicator of inflammation and oxidative stress. Sixty patients with BD and 50 control individuals were included to investigate the relationship between MHR and endothelial dysfunction. Endothelial function was assessed by flow- and nitroglycerin-mediated dilatation technique (FMD and NMD, respectively). Serum high-sensitivity C-reactive protein (hsCRP) levels were measured in all study participants...
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28409766/vocational-situation-and-experiences-from-the-work-environment-among-individuals-with-neuromuscular-diseases
#14
E M Lexell, I Langdell, J Lexell
BACKGROUND: Neuromuscular diseases (NMD) can affect the ability to be employed and to work, but there is limited knowledge of individuals' own perspectives of factors that are important for their vocational situation. OBJECTIVE: To explore the vocational situation among people with NMD that are employed, and to describe their experiences of how their disability, personal and environmental factors influence their ability to continue to work. METHODS: Nine participants with different NMD were included...
2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28402567/nonsense-mediated-mrna-decay-in-tetrahymena-is-ejc-independent-and-requires-a-protozoa-specific-nuclease
#15
Miao Tian, Wentao Yang, Jing Zhang, Huai Dang, Xingyi Lu, Chengjie Fu, Wei Miao
Nonsense-mediated mRNA decay (NMD) is essential for removing premature termination codon-containing transcripts from cells. Studying the NMD pathway in model organisms can help to elucidate the NMD mechanism in humans and improve our understanding of how this biologically important process has evolved. Ciliates are among the earliest branching eukaryotes; their NMD mechanism is poorly understood and may be primordial. We demonstrate that highly conserved Upf proteins (Upf1a, Upf2 and Upf3) are involved in the NMD pathway of the ciliate, Tetrahymena thermophila...
April 11, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28389433/structure-of-a-smg8-smg9-complex-identifies-a-g-domain-heterodimer-in-the-nmd-effector-proteins
#16
Liang Li, Mahesh Lingaraju, Claire Basquin, Jerome Basquin, Elena Conti
Nonsense-mediated mRNA decay (NMD) is a eukaryotic mRNA degradation pathway involved in surveillance and post-transcriptional regulation, and executed by the concerted action of several trans-acting factors. The SMG1 kinase is an essential NMD factor in metazoans and is associated with two recently identified and yet poorly characterized proteins, SMG8 and SMG9. We determined the 2.5 Å resolution crystal structure of a SMG8-SMG9 core complex from C. elegans. We found that SMG8-SMG9 is a G domain heterodimer with architectural similarities to the dynamin-like family of GTPases such as Atlastin and GBP1...
April 7, 2017: RNA
https://www.readbyqxmd.com/read/28383761/endoplasmic-reticulum-stress-in-mice-increases-hepatic-expression-of-genes-carrying-a-premature-termination-codon-via-a-nutritional-status-independent-grp78-dependent-mechanism
#17
Nagakatsu Harada, Maiko Okuyama, Aya Yoshikatsu, Hironori Yamamoto, Saori Ishiwata, Chikako Hamada, Tomoyo Hirose, Masayuki Shono, Masashi Kuroda, Rie Tsutsumi, Jiro Takeo, Yutaka Taketani, Yutaka Nakaya, Hiroshi Sakaue
Nonsense-mediated mRNA decay (NMD) degrades mRNAs carrying a premature termination codon (PTC) in eukaryotes. Cellular stresses, including endoplasmic reticulum (ER) stress, inhibit NMD and up-regulate PTC-containing mRNA (PTC-mRNA) levels in several cell lines. However, whether similar effects exist under in vivo conditions that involve systemic nutritional status is unclear. Here we compared the effects of pharmacological induction of ER stress with those of nutritional interventions on hepatic PTC-mRNA levels in mice...
April 6, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28379241/hypolipidemic-effect-of-youcha-in-hyperlipidemia-rats-induced-by-high-fat-diet
#18
Zhenjun Zhu, Zhongyi Lin, Hongrui Jiang, Yi Jiang, Mouming Zhao, Xiaoling Liu
Youcha is a novel tea drink from the northeast of Guangxi. This study aimed to investigate the hypolipidemic properties of Youcha in high-fat induced hyperlipidemic Sprague-Dawley (SD) rats. After designing the model, rats were randomly divided into six groups (n = 10): normal diet (NMD) group, high-fat diet (HFD) group, Xuezhikang (120 mg kg(-1) d(-1)) (HFD+P) group and Youcha (150, 750 or 1500 mg kg(-1) d(-1)) (HFD+L, HFD+M or HFD+H) groups. Youcha comprises tea polyphenols (1.51 g per 100 g), caffeine (34...
April 19, 2017: Food & Function
https://www.readbyqxmd.com/read/28371199/nonsense-pathogenic-variants-in-exon-1-of-phox2b-lead-to-translational-reinitiation-in-congenital-central-hypoventilation-syndrome
#19
Jacob T Cain, Dae I Kim, Megan Quast, Winnie G Shivega, Ryan J Patrick, Chuanpit Moser, Suzanne Reuter, Myrza Perez, Angela Myers, Jill M Weimer, Kyle J Roux, Megan Landsverk
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however non-polyalanine repeat mutations (NPARMs) have been reported. Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28369084/nmd-classifier-a-reliable-and-systematic-classification-tool-for-nonsense-mediated-decay-events
#20
Min-Kung Hsu, Hsuan-Yu Lin, Feng-Chi Chen
Nonsense-mediated decay (NMD) degrades mRNAs that include premature termination codons to avoid the translation and accumulation of truncated proteins. This mechanism has been found to participate in gene regulation and a wide spectrum of biological processes. However, the evolutionary and regulatory origins of NMD-targeted transcripts (NMDTs) have been less studied, partly because of the complexity in analyzing NMD events. Here we report NMD Classifier, a tool for systematic classification of NMD events for either annotated or de novo assembled transcripts...
2017: PloS One
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