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https://www.readbyqxmd.com/read/29342363/differential-effects-of-inhibitory-g-protein-isoforms-on-g-protein-gated-inwardly-rectifying-k-currents-in-adult-murine-atria
#1
Muriel Nobles, David Montaigne, Sonia Sebastian, Lutz Birnbaumer, Andrew Tinker
G-protein gated inwardly rectifying K+ (GIRK) channels are the major inwardly rectifying K+ currents in cardiac atrial myocytes and an important determinant of atrial electrophysiology. Inhibitory G-protein alpha subunits can both mediate activation via acetylcholine but can also supress basal currents in the absence of agonist. We studied this phenomenon using whole cell patch clamping in murine atria from mice with global genetic deletion of Gαi2, combined deletion of Gαi1/Gαi3 and littermate controls...
January 17, 2018: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29342354/a-highly-dynamic-loop-of-the-pseudomonas-aeruginosa-pa14-type-iv-pilin-is-essential-for-pilus-assembly
#2
Ylan Nguyen, Stephen Boulton, E Tyler McNicholl, Madoka Akimoto, Hanjeong Harvey, Francisca Aidoo, Giuseppe Melacini, Lori L Burrows
Type IVa pili (T4aP) are long, thin surface filaments involved in attachment, motility, biofilm formation, and DNA uptake. They are important virulence factors for many bacteria, including Pseudomonas aeruginosa, an opportunistic pathogen and common cause of hospital-acquired infections. Each helical filament contains thousands of monomers of the major pilin subunit, PilA. Each P. aeruginosa strain expresses one of five phylogenetically distinct major pilins, which vary in sequence and the nature of their associated accessory protein(s)...
January 17, 2018: ACS Infectious Diseases
https://www.readbyqxmd.com/read/29342197/molecular-discrimination-of-tall-fescue-morphotypes-in-association-with-festuca-relatives
#3
Shyamal K Talukder, Perumal Azhaguvel, Konstantin Chekhovskiy, Malay C Saha
Tall fescue (Festuca arundinacea Schreb.) is an important cool-season perennial grass species used as forage and turf, and in conservation plantings. There are three morphotypes in hexaploid tall fescue: Continental, Mediterranean and Rhizomatous. This study was conducted to develop morphotype-specific molecular markers to distinguish Continental and Mediterranean tall fescues, and establish their relationships with other species of the Festuca genus for genomic inference. Chloroplast sequence variation and simple sequence repeat (SSR) polymorphism were explored in 12 genotypes of three tall fescue morphotypes and four Festuca species...
2018: PloS One
https://www.readbyqxmd.com/read/29342193/analysis-of-copy-number-loss-of-the-erbb4-receptor-tyrosine-kinase-in-glioblastoma
#4
DeAnalisa C Jones, Adriana Scanteianu, Matthew DiStefano, Mehdi Bouhaddou, Marc R Birtwistle
Current treatments for glioblastoma multiforme (GBM)-an aggressive form of brain cancer-are minimally effective and yield a median survival of 14.6 months and a two-year survival rate of 30%. Given the severity of GBM and the limitations of its treatment, there is a need for the discovery of novel drug targets for GBM and more personalized treatment approaches based on the characteristics of an individual's tumor. Most receptor tyrosine kinases-such as EGFR-act as oncogenes, but publicly available data from the Cancer Cell Line Encyclopedia (CCLE) indicates copy number loss in the ERBB4 RTK gene across dozens of GBM cell lines, suggesting a potential tumor suppressor role...
2018: PloS One
https://www.readbyqxmd.com/read/29342133/a-myc-enhancer-cluster-regulates-normal-and-leukaemic-haematopoietic-stem-cell-hierarchies
#5
Carsten Bahr, Lisa von Paleske, Veli V Uslu, Silvia Remeseiro, Naoya Takayama, Stanley W Ng, Alex Murison, Katja Langenfeld, Massimo Petretich, Roberta Scognamiglio, Petra Zeisberger, Amelie S Benk, Ido Amit, Peter W Zandstra, Mathieu Lupien, John E Dick, Andreas Trumpp, François Spitz
The transcription factor Myc is essential for the regulation of haematopoietic stem cells and progenitors and has a critical function in haematopoietic malignancies. Here we show that an evolutionarily conserved region located 1.7 megabases downstream of the Myc gene that has previously been labelled as a 'super-enhancer' is essential for the regulation of Myc expression levels in both normal haematopoietic and leukaemic stem cell hierarchies in mice and humans. Deletion of this region in mice leads to a complete loss of Myc expression in haematopoietic stem cells and progenitors...
January 17, 2018: Nature
https://www.readbyqxmd.com/read/29341885/deletion-of-the-duffy-antigen-receptor-for-chemokines-darc-promotes-insulin-resistance-and-adipose-tissue-inflammation-during-high-fat-feeding
#6
Tyler W Benson, Daniel S Weintraub, Matthew Crowe, Nicole K H Yiew, Orishebawo Popoola, Ajay Pillai, Joel Joseph, Krystal Archer, Charlotte Greenway, Tapan K Chatterjee, James Mintz, David W Stepp, Brian K Stansfield, Weiqin Chen, Julia Brittain, Vladimir Y Bogdanov, Yan Gao, James G Wilson, Yaoliang Tang, Ha Won Kim, Neal L Weintraub
OBJECTIVE: Inflammation in adipose tissues in obesity promotes insulin resistance and metabolic disease. The Duffy antigen receptor for chemokines (DARC) is a promiscuous non-signaling receptor expressed on erythrocytes and other cell types that modulates tissue inflammation by binding chemokines such as monocyte chemoattractant protein-1 (MCP-1) and by acting as a chemokine reservoir. DARC allelic variants are common in humans, but the role of DARC in modulating obesity-related metabolic disease is unknown...
January 13, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29341877/characterizing-the-effects-of-insertion-of-a-5-2%C3%A2-kb-region-of-a-vacv-genome-which-contains-known-immune-evasion-genes-on-mva-immunogenicity
#7
Melissa R Ryerson, Joanna L Shisler
Modified Vaccinia virus Ankara (MVA) is an attenuated Vaccinia virus (VACV) that is a popular vaccine vector candidate against many different pathogens. Its replication-restricted nature makes it a safe vaccine. However, higher doses or multiple boosts of MVA are necessary to elicit an immune response similar to wild-type VACV. Multiple strategies have been used to create modified MVA viruses that remain safe, but have increased immunogenicity. For example, one common strategy is to delete MVA immunomodulatory proteins in hopes of increasing the host immune response...
January 13, 2018: Virus Research
https://www.readbyqxmd.com/read/29341597/the-wyl-domain-of-the-pif1-helicase-from-the-thermophilic-bacterium-thermotoga-elfii-is-an-accessory-single-stranded-dna-binding-module
#8
Nicholas M Andis, Christopher W Sausen, Ashna Alladin, Matthew Bochman
PIF1 family helicases are conserved from bacteria to man. With the exception of the well-studied yeast PIF1 helicases (e.g., ScPif1 and ScRrm3), however, very little is known about how these enzymes help maintain genome stability. Indeed, we lack a basic understanding of the protein domains found N- and C-terminal to the characteristic central PIF1 helicase domain in these proteins. Here, using chimeric constructs, we show that the ScPif1 and ScRrm3 helicase domains are interchangeable and that the N-terminus of ScRrm3 is important for its function in vivo...
January 17, 2018: Biochemistry
https://www.readbyqxmd.com/read/29341473/somatic-mosaic-deletions-involving-scn1a-cause-dravet-syndrome
#9
Tojo Nakayama, Atsushi Ishii, Takeshi Yoshida, Hirosato Nasu, Keiko Shimojima, Toshiyuki Yamamoto, Shigeo Kure, Shinichi Hirose
Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. The allele frequency of the mosaic deletions estimated by multiplex ligation-dependent probe amplification and array comparative genomic hybridization was 25-40%, which was comparable to the mosaic ratio in lymphocytes and buccal mucosa cells observed by fluorescence in situ hybridization analysis...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341423/variable-immune-deficiency-related-to-deletion-size-in-chromosome-22q11-2-deletion-syndrome
#10
Blaine Crowley, Melanie Ruffner, Donna M McDonald McGinn, Kathleen E Sullivan
The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341299/autonomous-purkinje-cell-axonal-dystrophy-causes-ataxia-in-peroxisomal-multifunctional-protein-2-deficiency
#11
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29341259/child-syndrome-mimicking-verrucous-nevus-in-a-chinese-patient-responded-well-to-the-topical-therapy-of-compound-of-simvastatin-and-cholesterol
#12
Xia Yu, Jia Zhang, Yan Gu, Dan Deng, Zhouwei Wu, Lei Bao, Ming Li, Zhirong Yao
BACKGROUND: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis. OBJECTIVES: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side effects. METHOD: We comprehensively evaluated the patient's conditions...
January 17, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29341147/genotype-and-risk-of-tumour-rupture-in-gastrointestinal-stromal-tumour
#13
K Boye, J-M Berner, I Hompland, Ø S Bruland, S Stoldt, K Sundby Hall, B Bjerkehagen, T Hølmebakk
BACKGROUND: Tumour rupture is a strong predictor of poor outcome in gastrointestinal stromal tumours (GISTs) of the stomach and small intestine. The objective was to determine whether tumour genotype was associated with risk of rupture. METHODS: Rupture was classified according to the definition proposed by the Oslo Sarcoma Group. Since January 2000, data were registered retrospectively for all patients at Oslo University Hospital undergoing surgery for localized GIST of the stomach or small intestine...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29340841/an-efficient-gene-disruption-method-using-a-positive-negative-split-selection-marker-and-agrobacterium-tumefaciens-mediated-transformation-for-nomuraea-rileyi
#14
Yu Su, Zhongkang Wang, Changwen Shao, Yuanli Luo, Li Wang, Youping Yin
Targeted gene disruption via Agrobacterium tumefaciens-mediated transformation (ATMT) and homologous recombination is the most common method used to identify and investigate the functions of genes in fungi. However, the gene disruption efficiency of this method is low due to ectopic integration. In this study, a high-efficiency gene disruption strategy based on ATMT and the split-marker method was developed for use in Nomuraea rileyi. The β-glucuronidase (gus) gene was used as a negative selection marker to facilitate the screening of putative transformants...
January 16, 2018: World Journal of Microbiology & Biotechnology
https://www.readbyqxmd.com/read/29340787/a-profilin-gene-promoter-from-switchgrass-panicum-virgatum-l-directs-strong-and-specific-transgene-expression-to-vascular-bundles-in-rice
#15
Wenzhi Xu, Wusheng Liu, Rongjian Ye, Mitra Mazarei, Debao Huang, Xinquan Zhang, C Neal Stewart
A switchgrass vascular tissue-specific promoter (PvPfn2) and its 5'-end serial deletions drive high levels of vascular bundle transgene expression in transgenic rice. Constitutive promoters are widely used for crop genetic engineering, which can result in multiple off-target effects, including suboptimal growth and epigenetic gene silencing. These problems can be potentially avoided using tissue-specific promoters for targeted transgene expression. One particularly urgent need for targeted cell wall modification in bioenergy crops, such as switchgrass (Panicum virgatum L...
January 17, 2018: Plant Cell Reports
https://www.readbyqxmd.com/read/29340581/gene-turnover-and-diversification-of-the-%C3%AE-and-%C3%AE-globin-gene-families-in-sauropsid-vertebrates
#16
Federico G Hoffmann, Michael W Vandewege, Jay F Storz, Juan C Opazo
The genes that encode the α- and β-chain subunits of vertebrate hemoglobin have served as a model system for elucidating general principles of gene family evolution, but little is known about patterns of evolution in amniotes other than mammals and birds. Here we report a comparative genomic analysis of the α- and β-globin gene clusters in sauropsids (archosaurs and nonavian reptiles). The objectives were to characterize changes in the size and membership composition of the α- and β-globin gene families within and among the major sauropsid lineages, to reconstruct the evolutionary history of the sauropsid α- and β-globin genes, to resolve orthologous relationships, and to reconstruct evolutionary changes in the developmental regulation of gene expression...
January 11, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29340249/a-streptomycin-resistance-marker-in-h-%C3%A2-parasuis-based-on-site-directed-mutations-in-rpsl-gene-to-perform-unmarked-in-frame-mutations-and-to-verify-natural-transformation
#17
Ke Dai, Xintian Wen, Yung-Fu Chang, Sanjie Cao, Qin Zhao, Xiaobo Huang, Rui Wu, Yong Huang, Qigui Yan, Xinfeng Han, Xiaoping Ma, Yiping Wen
Haemophilus parasuis is a member of the family Pasteurellaceae and a major causative agent of Glässer's disease. This bacterium is normally a benign swine commensal but may become a deadly pathogen upon penetration into multiple tissues, contributing to severe lesions in swine. We have established a successive natural transformation-based markerless mutation system in this species. However, the two-step mutation system requires screening of natural competent cells, and cannot delete genes which regulate natural competence per se...
2018: PeerJ
https://www.readbyqxmd.com/read/29340238/a-revised-cranial-description-of-massospondylus-carinatus-owen-dinosauria-sauropodomorpha-based-on-computed-tomographic-scans-and-a-review-of-cranial-characters-for-basal-sauropodomorpha
#18
Kimberley E J Chapelle, Jonah N Choiniere
Massospondylus carinatus is a basal sauropodomorph dinosaur from the early Jurassic Elliot Formation of South Africa. It is one of the best-represented fossil dinosaur taxa, known from hundreds of specimens including at least 13 complete or nearly complete skulls. Surprisingly, the internal cranial anatomy of M. carinatus has never been described using computed tomography (CT) methods. Using CT scans and 3D digital representations, we digitally reconstruct the bones of the facial skeleton, braincase, and palate of a complete, undistorted cranium of M...
2018: PeerJ
https://www.readbyqxmd.com/read/29340157/hypocalcemia-due-to-22q11-2-deletion-syndrome-diagnosed-in-adulthood
#19
Maria Cabrer, Guillermo Serra, María Soledad Gogorza, Vicente Pereg
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points: It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29340132/effect-of-epilepsy-on-autism-symptoms-in-angelman-syndrome
#20
Kristin A Bakke, Patricia Howlin, Lars Retterstøl, Øivind J Kanavin, Arvid Heiberg, Terje Nærland
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level...
2018: Molecular Autism
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