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https://www.readbyqxmd.com/read/28743738/ptc-readthrough-in-human-cells-occurs-in-novel-cytoplasmic-foci-and-requires-upf-proteins
#1
Jieshuang Jia, Elisabeth Werkmeister, Sara Gonzalez-Hilarion, Catherine Leroy, Dieter C Gruenert, Frank Lafont, David Tulasne, Fabrice Lejeune
Nonsense-mutation-containing messenger ribonucleoprotein particles (mRNPs) transit through cytoplasmic foci called P-bodies before undergoing nonsense-mediated mRNA decay (NMD), a cytoplasmic mRNA surveillance mechanism. This study shows that the cytoskeleton modulates transport of nonsense-mutation-containing mRNPs to and from P-bodies. Impairing the integrity of cytoskeleton causes inhibition of NMD. The cytoskeleton thus plays a crucial role in NMD. Interestingly, disruption of actin filaments results in both inhibition of NMD and activation of readthrough, while disruption of microtubules causes only NMD inhibition...
July 25, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28743675/role-of-nmd-and-nas-in-the-mrna-pattern-of-two-new-%C3%AE-thalassemia-mutants
#2
Giovanna Cardiero, Clelia Scarano, Gennaro Musollino, Francesca Di Noce, Romeo Prezioso, Sabrina Dembech, Gaetana La Porta, Maria Grazia Bisconte, Rosario Colella, Giuseppina Lacerra
The α-thalassemia is a common disease due in prevalence to deletional mutants. We have identified two new α-thalassemia pointform mutants: α1 cod22 GGC > GGT Gly > Gly creating a 5' splicing sequence and: α1 cod23 GAG >TAG Glu > stop. We perform a qualitative and semi-quantitative analysis of the mRNA molecules, from blood of the carriers, to define the molecular mechanisms giving rise to thalassemia phenotype. In vitro analysis using minigenes and cycloheximide was performed to evaluate if the mutants are substrate of nonsense-mediated mRNA decay...
July 22, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28743674/the-role-of-alternative-splicing-coupled-to-nonsense-mediated-mrna-decay-in-human-disease
#3
Paulo J da Costa, Juliane Menezes, Luísa Romão
Alternative pre-mRNA splicing (AS) affects gene expression as it generates proteome diversity. Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that recognizes and selectively degrades mRNAs carrying premature translation-termination codons (PTCs), preventing the production of truncated proteins that could result in disease. Several studies have also implicated NMD in the regulation of steady-state levels of physiological mRNAs. In addition, it is known that several regulated AS events do not lead to generation of protein products, as they lead to transcripts that carry PTCs and thus, they are committed to NMD...
July 22, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#4
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28702830/sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#5
REVIEW
Mohamad Ammar Albdewi, Giuseppe Liistro, Riëm El Tahry
Sleep-disordered breathing (SDB) is relatively common in general population as well as in patients with neuromuscular disease. SDB comprises a wide spectrum of disorders varying from simple snoring to complete closure of the upper airway as seen in obstructive sleep apnoea (OSA). It includes also other disorders like prolonged hypoxemia, hypoventilation, and central sleep apnoea (CSA). Neuromuscular diseases (NMD) form a group of disorders that can cause significant reduction in the quality and span of life...
July 12, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28683502/translational-research-in-europe-for-the-assessment-and-treatment-for-neuromuscular-disorders-treat-nmd
#6
Rebecca Leary, Anne O Oyewole, Katharine Bushby, Annemieke Aartsma-Rus
No abstract text is available yet for this article.
August 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28663146/human-nonsense-mediated-rna-decay-regulates-emt-by-targeting-the-tgf-%C3%A3-signaling-pathway-in-lung-adenocarcinoma
#7
Lu Cao, Lisha Qi, Lin Zhang, Wangzhao Song, Yue Yu, Cong Xu, Lingmei Li, Yuhong Guo, Lingyi Yang, Changxu Liu, Qiujuan Huang, Yalei Wang, Baocun Sun, Bin Meng, Bin Zhang, Wenfeng Cao
Nonsense-mediated mRNA decay (NMD) is a highly conserved pathway that selectively degrades aberrant RNA transcripts. In this study, we proved that NMD regulates the epithelial-mesenchymal transition (EMT) of lung adenocarcinoma (ADC). Moreover, we found that NMD core factor UP-frameshift 1 tends to be expressed at lower levels in human ADC tissues than in normal lung tissues, thereby raising the possibility that NMD may be downregulated to permit ADC oncogenesis. Our experiments in human ADC cell lines showed that downregulating NMD can promote EMT...
June 27, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28649990/a-pan-cancer-genome-wide-analysis-reveals-tumour-dependencies-by-induction-of-nonsense-mediated-decay
#8
Zhiyuan Hu, Christopher Yau, Ahmed Ashour Ahmed
Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. Although NMD-induced loss-of-function has been shown to contribute to the genesis of particular cancers, its global functional consequence in tumours has not been characterized. Here we develop an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas. We identify more than 73 K mutations that are predicted to elicit NMD (NMD-elicit). NMD-elicit mutations in tumour suppressor genes (TSGs) are associated with significant reduction in gene expression...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28636509/evaluation-of-endothelial-dysfunction-with-flow-mediated-dilatation-after-transradial-coronary-angiography
#9
Bahar T Tak, Kevser G Balci, Hilal Erken, Demet M Gerede, Sercan Tak, Hüseyin Göksülük, Sibel Turhan, Çetin Erol
Objective Transradial coronary angiography (TRCA) may lead to endothelial dysfunction. Therefore, this study investigated the TRCA-related endothelial dysfunction and its relation to operator experience, the number of punctures and procedure duration. Methods and results A total of 57 patients (42 males and 17 females) who underwent TRCA were included in this single-centre study. Nine months after the procedure, all patients underwent radial artery B-mode ultrasound imaging, and flow-mediated dilatation (FMD) and nitroglycerin-mediated dilatation (NMD) techniques were employed...
March 21, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28634652/a-multi-source-approach-to-determine-sma-incidence-and-research-ready-population
#10
Ingrid E C Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR)...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28634199/characterising-cis-regulatory-variation-in-the-transcriptome-of-histologically-normal-and-tumour-derived-pancreatic-tissues
#11
Mingfeng Zhang, Soren Lykke-Andersen, Bin Zhu, Wenming Xiao, Jason W Hoskins, Xijun Zhang, Lauren M Rost, Irene Collins, Martijn van de Bunt, Jinping Jia, Hemang Parikh, Tongwu Zhang, Lei Song, Ashley Jermusyk, Charles C Chung, Bin Zhu, Weiyin Zhou, Gail L Matters, Robert C Kurtz, Meredith Yeager, Torben Heick Jensen, Kevin M Brown, Halit Ongen, William R Bamlet, Bradley A Murray, Mark I McCarthy, Stephen J Chanock, Nilanjan Chatterjee, Brian M Wolpin, Jill P Smith, Sara H Olson, Gloria M Petersen, Jianxin Shi, Laufey Amundadottir
OBJECTIVE: To elucidate the genetic architecture of gene expression in pancreatic tissues. DESIGN: We performed expression quantitative trait locus (eQTL) analysis in histologically normal pancreatic tissue samples (n=95) using RNA sequencing and the corresponding 1000 genomes imputed germline genotypes. Data from pancreatic tumour-derived tissue samples (n=115) from The Cancer Genome Atlas were included for comparison. RESULTS: We identified 38 615 cis-eQTLs (in 484 genes) in histologically normal tissues and 39 713 cis-eQTL (in 237 genes) in tumour-derived tissues (false discovery rate <0...
June 20, 2017: Gut
https://www.readbyqxmd.com/read/28634159/a-role-for-the-nonsense-mediated-mrna-decay-pathway-in-maintaining-genome-stability-in-caenorhabditis-elegans
#12
Víctor González-Huici, Bin Wang, Anton Gartner
Ionizing radiation (IR) is commonly used in cancer therapy and is a main source of DNA double-strand-breaks (DSBs), one of the most toxic forms of DNA damage. We have used Caenorhabditis elegans as an invertebrate model to identify novel factors required for repair of DNA damage inflicted by IR. We have performed an unbiased genetic screen, finding that smg-1 mutations confer strong hypersensitivity to IR. SMG-1 is a phosphoinositide-3 kinase (PI3K) kinase involved in mediating nonsense-mediated mRNA decay (NMD) of transcripts containing premature stop codons and related to the ATM and ATR kinases which are at the apex of DNA damage signalling pathways...
June 20, 2017: Genetics
https://www.readbyqxmd.com/read/28621454/adult-males-with-haemophilia-have-a-different-macrovascular-and-microvascular-endothelial-function-profile-compared-with-healthy-controls
#13
H Sun, M Yang, M Fung, S Chan, M Jawi, T Anderson, M-C Poon, S Jackson
INTRODUCTION: Endothelial function has been identified as an independent predictor of cardiovascular risk in the general population. It is unclear if the haemophilia population has a different endothelial function profile compared to the healthy population. AIM: This prospective study aims to assess if there is a difference in endothelial function between haemophilia patients and healthy controls, and the impact of endothelial function on vascular outcomes in the haemophilia population...
June 16, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28613098/combined-treatment-of-irbesartan-and-diltiazem-ameliorates-endothelium-dependent-vasodilatation-in-hypertensives
#14
Tingting Zhou, Xiaodong Huang, Xiaoqi Cai, Liangdi Xie
OBJECTIVE: Endothelial function is of prognostic importance for hypertensives. The aim of this study was to investigate the effects of irbesartan combined with diltiazem on the endothelium-dependent vasodilatation in essential hypertensive (EH) patients in China. METHODS: A total of 150 Chinese hypertensives aged from 40 to 80 years old were assigned into three groups: irbesartan treated(150 mg/d, n = 46), diltiazem treated (90 mg/d, n = 51), and combined therapy group (irbesartan 150 mg/d+ diltiazem 90 mg/d, n = 53)...
June 14, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28604599/nutritional-challenges-in-duchenne-muscular-dystrophy
#15
REVIEW
Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco, Susanna Esposito
Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures...
June 10, 2017: Nutrients
https://www.readbyqxmd.com/read/28600326/up-frameshift-protein-upf1-regulates-neurospora-crassa-circadian-and-diurnal-growth-rhythms
#16
Yilan Wu, Yin Zhang, Yunpeng Sun, Jiali Yu, Peiliang Wang, Huan Ma, Shijunyin Chen, Lizhen Ma, Dongyang Zhang, Qun He, Jinhu Guo
Nonsense-mediated RNA decay (NMD) is a crucial post-transcriptional regulatory mechanism that recognizes and eliminates aberrantly processed transcripts, and mediates the expression of normal gene transcripts. In this study, we report that in the filamentous fungus Neurospora crassa, the NMD factors play a conserved role in regulating the surveillance of NMD targets including PTC-containing transcripts and normal transcripts. The circadian rhythms in all of the upf1-3 knockout strains, which are principle NMD factors, were aberrant...
June 9, 2017: Genetics
https://www.readbyqxmd.com/read/28595636/two-novel-c-terminal-frameshift-mutations-in-the-%C3%AE-globin-gene-lead-to-rapid-mrna-decay
#17
Katarzyna Rawa, Roman J Szczesny, Ewelina P Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski, Beata Burzynska
BACKGROUND: The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nucleotides in the β-globin gene or its immediate flanking sequences. These mutations interfere with the gene function either at the transcriptional, translational or posttranslational level. METHODS: Two cases of Polish patients with hereditary hemolytic anemia suspected of thalassemia were studied...
June 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28593450/clinical-assessment-of-endothelial-function-in-patients-with-chronic-obstructive-pulmonary-disease-a-systematic-review-with-meta-analysis
#18
Pasquale Ambrosino, Roberta Lupoli, Salvatore Iervolino, Alberto De Felice, Nicola Pappone, Antonio Storino, Matteo Nicola Dario Di Minno
Patients with chronic obstructive pulmonary disease (COPD) have an increased cardiovascular morbidity and mortality. Flow-mediated (FMD) and nitrate-mediated dilatation (NMD) are considered non-invasive methods to assess endothelial function and surrogate markers of subclinical atherosclerosis. We performed a systematic review with meta-analysis and meta-regression to evaluate the impact of COPD on FMD and NMD. Studies were systematically searched in the PubMed, Web of Science, Scopus and EMBASE databases. The random-effect method was used to take into account the variability among included studies...
June 7, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28586478/autoregulation-of-rbm10-and-cross-regulation-of-rbm10-rbm5-via-alternative-splicing-coupled-nonsense-mediated-decay
#19
Yue Sun, Yufang Bao, Wenjian Han, Fan Song, Xianfeng Shen, Jiawei Zhao, Ji Zuo, David Saffen, Wei Chen, Zefeng Wang, Xintian You, Yongbo Wang
Mutations in the spliceosomal RNA binding protein RBM10 cause TARP syndrome and are frequently observed in lung adenocarcinoma (LUAD). We have previously shown that RBM10 enhances exon skipping of its target genes, including its paralog RBM5. Here, we report that RBM10 negatively regulates its own mRNA and protein expression and that of RBM5 by promoting alternative splicing-coupled nonsense-mediated mRNA decay (AS-NMD). Through computational analysis and experimental validation, we identified RBM10-promoted skipping of exon 6 or 12 in RBM10 and exon 6 or 16 in RBM5 as the underlying AS-NMD events...
June 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28562381/respiratory-involvement-in-neuromuscular-disorders
#20
Matthias Boentert, Stephan Wenninger, Valeria A Sansone
PURPOSE OF REVIEW: In numerous neuromuscular disorders (NMDs), respiratory muscle weakness is present, and acute or chronic respiratory failure may evolve. Very often, respiratory involvement substantially adds to the burden of disease, impairs quality of life, or reduces life expectancy. This article summarizes new aspects of both diagnosis and management of respiratory muscle weakness in patients with NMDs. RECENT FINDINGS: Drugs like deflazacort, ataluren, eteplirsen, and nusinersen are now approved treatments for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, and others are on their way in NMDs...
May 29, 2017: Current Opinion in Neurology
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