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https://www.readbyqxmd.com/read/29677653/three-amino-acid-substitutions-in-the-ns1-protein-change-the-virus-replication-of-h5n1-influenza-virus-in-human-cells
#1
Jing Li, Kun Zhang, Quanjiao Chen, Xiaoshuang Zhang, Yeping Sun, Yuhai Bi, Shuang Zhang, Jinyan Gu, Jiarong Li, Di Liu, Wenjun Liu, Jiyong Zhou
Influenza A viruses have sophisticated strategies to promote their own replication. Here, we found that three H5N1 influenza viruses display different replication patterns in human A549 and macrophage cells. The HN01 virus displayed poor replication compared to HN021 and JS01. In addition, the HN01 virus was unable to counteract the interferon response and block general gene expression. This capability was restored by three amino acid substitutions on the NS1 protein: K55E, K66E, and C133F, resulting in recovered binding to CPSF30 and decreased interferon response activity...
April 17, 2018: Virology
https://www.readbyqxmd.com/read/29677637/the-prevalence-of-molecular-markers-of-drug-resistance-in-plasmodium-vivax-from-the-border-regions-of-thailand-in-2008-and-2014
#2
Kritpaphat Tantiamornkul, Tepanata Pumpaibool, Jittima Piriyapongsa, Richard Culleton, Usa Lek-Uthai
The prevalence of Plasmodium vivax is increasing in the border regions of Thailand; one potential problem confounding the control of malaria in these regions is the emergence and spread of drug resistance. The aim of this study was to determine the genetic diversity in genes potentially linked to drug resistance in P. vivax parasites isolated from four different border regions of Thailand; Thai-Myanmar (Tak, Mae Hong Son and Prachuap Khiri Khan Provinces), and Thai-Cambodian borders (Chanthaburi Province). Isolates were collected from 345 P...
April 12, 2018: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29677589/generation-of-the-human-induced-pluripotent-stem-cell-hipsc-line-psmi002-a-from-a-patient-affected-by-the-jervell-and-lange-nielsen-syndrome-and-carrier-of-two-compound-heterozygous-mutations-on-the-kcnq1-gene
#3
Manuela Mura, Yee-Ki Lee, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Federica Dagradi, Lia Crotti, Enza Maria Valente, Peter J Schwartz, Hung-Fat Tse, Massimiliano Gnecchi
We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs)...
April 7, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29677514/phase-separation-of-fus-is-suppressed-by-its-nuclear-import-receptor-and-arginine-methylation
#4
Mario Hofweber, Saskia Hutten, Benjamin Bourgeois, Emil Spreitzer, Annika Niedner-Boblenz, Martina Schifferer, Marc-David Ruepp, Mikael Simons, Dierk Niessing, Tobias Madl, Dorothee Dormann
Cytoplasmic FUS aggregates are a pathological hallmark in a subset of patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). A key step that is disrupted in these patients is nuclear import of FUS mediated by the import receptor Transportin/Karyopherin-β2. In ALS-FUS patients, this is caused by mutations in the nuclear localization signal (NLS) of FUS that weaken Transportin binding. In FTD-FUS patients, Transportin is aggregated, and post-translational arginine methylation, which regulates the FUS-Transportin interaction, is lost...
April 19, 2018: Cell
https://www.readbyqxmd.com/read/29677512/nuclear-import-receptors-reverse-aberrant-phase-transitions-of-rna-binding-proteins-with-prion-like-domains
#5
Lin Guo, Hong Joo Kim, Hejia Wang, John Monaghan, Fernande Freyermuth, Julie C Sung, Kevin O'Donovan, Charlotte M Fare, Zamia Diaz, Nikita Singh, Zi Chao Zhang, Maura Coughlin, Elizabeth A Sweeny, Morgan E DeSantis, Meredith E Jackrel, Christopher B Rodell, Jason A Burdick, Oliver D King, Aaron D Gitler, Clotilde Lagier-Tourenne, Udai Bhan Pandey, Yuh Min Chook, J Paul Taylor, James Shorter
RNA-binding proteins (RBPs) with prion-like domains (PrLDs) phase transition to functional liquids, which can mature into aberrant hydrogels composed of pathological fibrils that underpin fatal neurodegenerative disorders. Several nuclear RBPs with PrLDs, including TDP-43, FUS, hnRNPA1, and hnRNPA2, mislocalize to cytoplasmic inclusions in neurodegenerative disorders, and mutations in their PrLDs can accelerate fibrillization and cause disease. Here, we establish that nuclear-import receptors (NIRs) specifically chaperone and potently disaggregate wild-type and disease-linked RBPs bearing a NLS...
April 19, 2018: Cell
https://www.readbyqxmd.com/read/29677493/polyamine-control-of-translation-elongation-regulates-start-site-selection-on-antizyme-inhibitor-mrna-via-ribosome-queuing
#6
Ivaylo P Ivanov, Byung-Sik Shin, Gary Loughran, Ioanna Tzani, Sara K Young-Baird, Chune Cao, John F Atkins, Thomas E Dever
Translation initiation is typically restricted to AUG codons, and scanning eukaryotic ribosomes inefficiently recognize near-cognate codons. We show that queuing of scanning ribosomes behind a paused elongating ribosome promotes initiation at upstream weak start sites. Ribosomal profiling reveals polyamine-dependent pausing of elongating ribosomes on a conserved Pro-Pro-Trp (PPW) motif in an inhibitory non-AUG-initiated upstream conserved coding region (uCC) of the antizyme inhibitor 1 (AZIN1) mRNA, encoding a regulator of cellular polyamine synthesis...
April 19, 2018: Molecular Cell
https://www.readbyqxmd.com/read/29677481/mutation-analysis-of-short-tandem-repeats-in-a-population-sample-from-upper-silesia-southern-poland
#7
Kornelia Droździok, Jadwiga Kabiesz, Marcin Tomsia, Rafał Skowronek, Krzysztof Rębała
In paternity testing, DNA polymorphism analysis not only settles explicitly disputed paternity issue but also provides information on mutation frequencies in STR loci. In this study, insertion or deletion of one repetitive unit was observed in 38 of 32,391 meiotic transfers analysed in 953 paternity testing cases. Parentage samples from Upper Silesia (southern Poland) were examined in 2008-2014 with the use of three commercially available amplification kits: AmpFlSTR Identifiler (Applied Biosystems), PowerPlex 16 HS (Promega) and PowerPlex ESX 17 (Promega)...
April 1, 2018: Legal Medicine
https://www.readbyqxmd.com/read/29677359/essential-infantile-esotropia-potential-pathogenetic-role-of-extended-subcortical-neuroplasticity
#8
Michael C Brodsky
Essential infantile esotropia is generated by prenuclear visual pathways that increase esotonus and gradually drive the eyes into a convergent position. Contrary to the prevailing notion that infantile esotropia reflects a primary disturbance within the visual cortex, accumulating evidence suggests that infantile esotropia is generated by lower subcortical centers that subserve nasalward optokinesis. These phylogenetically older visuo-vestibular pathways include the nucleus of the optic tract, accessory optic system, inferior olive, cerebellar flocculus, and vestibular nucleus...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29677191/type-2-diabetic-aldehyde-dehydrogenase-2-mutant-mice-aldh-2-2-exhibiting-heart-failure-with-preserved-ejection-fraction-phenotype-can-be-determined-by-exercise-stress-echocardiography
#9
Guodong Pan, Srikar Munukutla, Ananya Kar, Joseph Gardinier, Rajarajan A Thandavarayan, Suresh Selvaraj Palaniyandi
E487K point mutation of aldehyde dehydrogenase (ALDH) 2 (ALDH2*2) in East Asians intrinsically lowers ALDH2 activity. ALDH2*2 is associated with diabetic cardiomyopathy. Diabetic patients exhibit heart failure of preserved ejection fraction (HFpEF) i.e. while the systolic heart function is preserved in them, they may exhibit diastolic dysfunction, implying a jeopardized myocardial health. Currently, it is challenging to detect cardiac functional deterioration in diabetic mice. Stress echocardiography (echo) in the clinical set-up is a procedure used to measure cardiac reserve and impaired cardiac function in coronary artery diseases...
2018: PloS One
https://www.readbyqxmd.com/read/29677173/what-does-this-mutation-mean-the-tools-and-pitfalls-of-variant-interpretation-in-lymphoid-malignancies
#10
REVIEW
Guillermin Yann, Lopez Jonathan, Chabane Kaddour, Hayette Sandrine, Bardel Claire, Salles Gilles, Sujobert Pierre, Huet Sarah
High throughput sequencing (HTS) is increasingly important in determining cancer diagnoses, with subsequent prognostic and therapeutic implications. The biology of cancer is becoming increasingly deciphered and it is clear that therapy needs to be individually tailored. Whilst translational research plays an important role in lymphoid malignancies, few guidelines exist to guide biologists and routine laboratories through this constantly evolving field. In this article, we review the challenges of interpreting HTS in lymphoid malignancies and provide a toolkit to interpret single nucleotide variants obtained from HTS...
April 20, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29677005/maged2-a-novel-form-of-antenatal-bartter-s-syndrome
#11
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: Antenatal Bartter's syndrome (aBS) is the most severe form of Bartter's syndrome, requiring close follow-up, in particular during the neonatal period, primarily because of prematurity. The recent identification of a novel and very severe form of aBS merits an update on this topic. RECENT FINDING: Despite the identification of several genes involved in Bartter's syndrome, about 20% of patients clinically diagnosed with aBS remained without genetic explanation for decades...
April 18, 2018: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/29676996/involvement-of-spata31-copy-number-variable-genes-in-human-lifespan
#12
Cemalettin Bekpen, Chen Xie, Almut Nebel, Diethard Tautz
The SPATA31 ( alias FAM75A) gene family belongs to the core duplicon families that are thought to have contributed significantly to hominoid evolution. It is also among the gene families with the strongest signal of positive selection in hominoids. It has acquired new protein domains in the primate lineage and a previous study has suggested that the gene family has expanded its function into UV response and DNA repair. Here we show that over-expression of SPATA31A1 in fibroblast cells leads to premature senescence due to interference with aging-related transcription pathways...
April 19, 2018: Aging
https://www.readbyqxmd.com/read/29676907/%C3%AE-glucocerebrosidase-modulators-promote-dimerization-of-%C3%AE-glucocerebrosidase-and-reveal-an-allosteric-binding-site
#13
Jianbin Zheng, Long Chen, Owen S Skinner, Daniel Ysselstein, Jonathan Remis, Peter Lansbury, Renato Skerlj, Michael Mrosek, Ursula Heunisch, Stephan Krapp, Joel Charrow, Michael Schwake, Neil L Kelleher, Richard B Silverman, Dimitri Krainc
β-Glucocerebrosidase (GCase) mutations cause Gaucher's disease and are a high risk factor in Parkinson's disease. The implementation of a small molecule modulator is a strategy to restore proper folding and lysosome delivery of degradation-prone mutant GCase. Here, we present a potent quinazoline modulator, JZ-4109, which stabilizes wild-type and N370S mutant GCase and increases GCase abundance in patient-derived fibroblast cells. We then developed a covalent modification strategy using a lysine targeted inactivator (JZ-5029) for in vitro mechanistic studies...
April 20, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29676859/a-novel-splicing-mutation-of-ectodysplasin-a-gene-responsible-for-hypohidrotic-ectodermal-dysplasia
#14
Guannan Liu, Xin Wang, Man Qin, Lisha Sun, Junxia Zhu
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Direct sequencing analysis revealed a previously unidentified mutation in the EDA splice donor site (c.526+1G>A). The function of the mutant EDA gene was predicted through online investigations and subsequently confirmed by splicing analysis in vitro...
April 20, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29676852/asp-58-modulates-lens-%C3%AE-a-crystallin-oligomer-formation-and-chaperone-function
#15
Takumi Takata, Tooru Nakamura-Hirota, Rintaro Inoue, Ken Morishima, Nobuhiro Sato, Masaaki Sugiyama, Noriko Fujii
Senile cataract onset is caused by insolubilization of lens proteins. The lens crystallin protein family correctly orders the formation of homo- or hetero-oligomers in lens fiber cells. Because lens fiber cells do not divide, covalent post-translational modifications such as isomerization of aspartate residues, accumulate with aging. Although many isomerization sites of αA-crystallin have been reported, their structural and functional contributions have never been identified. In this study, αA-crystallin was extracted from the aged human lens and separated into each oligomeric state by size exclusion chromatography and electrophoresis...
April 20, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29676818/new-insights-into-the-phenotypes-of-atopic-dermatitis-linked-with-allergies-and-asthma-in-children-an-overview
#16
F Amat, A Soria, P Tallon, M Bourgoin-Heck, N Lambert, A Deschildre, J Just
Atopic dermatitis (AD) is a complex disease with multiple causes and complex mechanistic pathways according to age of onset, severity of the illness, ethnic modifiers, response to therapy, and triggers. A group of difficult-to-manage patients characterized by early-onset AD and severe lifelong disease associated with allergic asthma and/or food allergy, has been identified. In this paper, we focus on these severe phenotypes, analyzing their links with other atopic comorbidities, and taking into account the results from recent cohort studies and meta-analyses...
April 20, 2018: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29676774/the-architecture-of-an-empirical-genotype-phenotype-map
#17
José Aguilar-Rodríguez, Leto Peel, Massimo Stella, Andreas Wagner, Joshua L Payne
Recent advances in high-throughput technologies are bringing the study of empirical genotype-phenotype (GP) maps to the fore. Here, we use data from protein binding microarrays to study an empirical GP map of transcription factor (TF) binding preferences. In this map, each genotype is a DNA sequence. The phenotype of this DNA sequence is its ability to bind one or more TFs. We study this GP map using genotype networks, in which nodes represent genotypes with the same phenotype, and edges connect nodes if their genotypes differ by a single small mutation...
April 20, 2018: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/29676720/mutagenic-repair-of-double-stranded-dna-breaks-in-vaccinia-virus-genomes-requires-cellular-dna-ligase-iv-activity-in-the-cytosol
#18
Rutger David Luteijn, Ingo Drexler, Geoffrey L Smith, Robert Jan Lebbink, Emmanuel J H J Wiertz
Poxviruses comprise a group of large dsDNA viruses that include members relevant to human and animal health, such as variola virus, monkeypox virus, cowpox virus and vaccinia virus (VACV). Poxviruses are remarkable for their unique replication cycle, which is restricted to the cytoplasm of infected cells. The independence from the host nucleus requires poxviruses to encode most of the enzymes involved in DNA replication, transcription and processing. Here, we use the CRISPR/Cas9 genome engineering system to induce DNA damage to VACV (strain Western Reserve) genomes...
April 20, 2018: Journal of General Virology
https://www.readbyqxmd.com/read/29676714/-does-ovarian-cancer-start-in-the-fallopian-tubes-possible-implications-for-preventive-adnexal-removal
#19
M P Steenbeek, J Bulten, N Hoogerbrugge, L F A G Massuger, J M A Pijnenborg, J A de Hullu
BACKGROUND: Recent insights in high-grade serous ovarian cancer development are pointing to the fallopian tubes as likely place of origin and not the ovaries themselves. This may have consequences for patients with increased risk of ovarian cancer. Adnexal removal is currently recommended for this patient group at an age of 35-45, which leads to premature menopause. CASE DESCRIPTION: In a 55-year-old woman with a BRCA1 germ line mutation, a high-grade serous carcinoma was unexpectedly diagnosed in both fallopian tubes during preventive adnexal removal...
2018: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29676695/huge-heterogeneity-in-survival-in-a-subset-of-adult-patients-with-resected-wild-type-isocitrate-dehydrogenase-status-who-grade-ii-astrocytomas
#20
Gaëtan Poulen, Catherine Gozé, Valérie Rigau, Hugues Duffau
OBJECTIVE World Health Organization grade II gliomas are infiltrating tumors that inexorably progress to a higher grade of malignancy. However, the time to malignant transformation is quite unpredictable at the individual patient level. A wild-type isocitrate dehydrogenase (IDH-wt) molecular profile has been reported as a poor prognostic factor, with more rapid progression and a shorter survival compared with IDH-mutant tumors. Here, the oncological outcomes of a series of adult patients with IDH-wt, diffuse, WHO grade II astrocytomas (AII) who underwent resection without early adjuvant therapy were investigated...
April 20, 2018: Journal of Neurosurgery
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