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https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#1
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549109/il-18-cleavage-triggers-cardiac-inflammation-and-fibrosis-upon-%C3%AE-adrenergic-insult
#2
Han Xiao, Hao Li, Jing-Jing Wang, Jian-Shu Zhang, Jing Shen, Xiang-Bo An, Cong-Cong Zhang, Ji-Min Wu, Yao Song, Xin-Yu Wang, Hai-Yi Yu, Xiang-Ning Deng, Zi-Jian Li, Ming Xu, Zhi-Zhen Lu, Jie Du, Wei Gao, Ai-Hua Zhang, Yue Feng, You-Yi Zhang
Aims: Rapid over-activation of β-adrenergic receptor (β-AR) upon stress leads to cardiac inflammation, a prevailing factor that underlies heart injury. However, mechanisms by which acute β-AR stimulation induce cardiac inflammation still remain unknown. Here, we set out to identify the crucial role of inflammasome/interleukin (IL)-18 in initiating and maintaining cardiac inflammatory cascades upon β-AR insult. Methods and results: Male C57BL/6 mice were injected with a single dose of β-AR agonist, isoproterenol (ISO, 5 mg/kg body weight) or saline subcutaneously...
May 26, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28549102/long-non-coding-rna-ccat1-mir-148a-axis-promotes-osteosarcoma-proliferation-and-migration-through-regulating-pik3ip1
#3
Jingwei Zhao, Liming Cheng
Osteosarcoma is the most frequent type of malignant primary bone tumor. Although many efforts have been made, the survival rate of osteosarcoma still remains  unsatisfied. Long non-coding RNAs (lncRNAs) have been demonstrated to be associated with many diseases including tumors, and involved in the regulation of a wide array of pathophysiological processes. Colon-cancer-associated transcript-1 (CCAT1) was first identified in colon cancer and has subsequently been reported to perform many functions in tumor progression...
May 25, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/28548649/aqueous-humor-endothelin-1-and-total-retinal-blood-flow-in-patients-with-non-proliferative-diabetic-retinopathy
#4
L-A Khuu, F Tayyari, J M Sivak, J G Flanagan, S Singer, M H Brent, D Huang, O Tan, C Hudson
PurposeThe purpose of this study was to determine the association between aqueous ET-1 levels and total retinal blood flow (TRBF) in patients with non-insulin-dependent type 2 diabetes mellitus (T2DM) and early non-proliferative diabetic retinopathy (NPDR).Patients and methodsA total of 15 age-matched controls and 15 T2DM patients with NPDR were recruited into the study. Aqueous humor (~80-120 μl) was collected before cataract surgery to measure the levels of ET-1 using suspension multiplex array technology...
May 26, 2017: Eye
https://www.readbyqxmd.com/read/28548211/a-haplotype-block-downstream-of-plasminogen-is-associated-with-chronic-and-aggressive-periodontitis
#5
Matthias Munz, Hong Chen, Yvonne Jockel-Schneider, Knut Adam, Per Hoffman, Klaus Berger, Thomas Kocher, Jörg Meyle, Peter Eickholz, Christof Doerfer, Matthias Laudes, André Uitterlinden, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Steven Offenbacher, Kimon Divaris, Corinna Bruckmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
AIM: The intronic variant rs4252120 in the plasminogen gene (PLG) is known to be associated with aggressive periodontitis (AgP) and atherosclerosis. Here, we examined the chromosomal region spanning PLG for associations with both chronic periodontitis (CP) and AgP. MATERIAL AND METHODS: The association of PLG candidate rs4252120 was tested in a German case-control sample of 1,419 CP cases using the genotyping assay hCV11225947 and 4,562 controls, genotyped with HumanOmni BeadChips...
May 26, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28548141/glass-capillary-based-microfluidic-elisa-for-rapid-diagnostics
#6
Xiaotian Tan, Maung Kyaw Khaing Oo, Yuan Gong, Yaoxin Li, Hongbo Zhu, Xudong Fan
Enzyme-linked immunosorbent assay (ELISA) is widely used in medical diagnostics and fundamental biological research due to its high specificity and reproducibility. However, the traditional 96-well-plate based ELISA still suffers from several notable drawbacks, such as long assay time (4-6 hours), burdensome procedures and large sample/reagent volumes (∼100 μl), which significantly limit traditional ELISA's applications in rapid clinical diagnosis and quasi-real-time prognosis of some fast-developing diseases...
May 26, 2017: Analyst
https://www.readbyqxmd.com/read/28547995/adsorption-induced-deformation-of-hierarchically-structured-mesoporous-silica-effect-of-pore-level-anisotropy
#7
Christian Balzer, Anna M Waag, Stefan Gehret, Gudrun Reichenauer, Florian Putz, Nicola Hüsing, Oskar Paris, Noam Bernstein, Gennady Y Gor, Alexander V Neimark
The goal of this work is to understand adsorption-induced deformation of hierarchically structured porous silica exhibiting well-defined cylindrical mesopores. For this purpose, we performed an in situ dilatometry measurement on a calcined and sintered monolithic silica sample during the adsorption of N2 at 77 K. To analyze the experimental data, we extended the adsorption stress model to account for the anisotropy of cylindrical mesopores, i.e., we explicitly derived the adsorption stress tensor components in the axial and radial direction of the pore...
May 26, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28547785/alkynyl-n-nosylhydrazones-easy-decomposition-to-alknynl-diazomethanes-and-application-for-allene-synthesis
#8
Xihe Bi, Yang Yang, Zhaohong Liu, Alessio Porta, Giuseppe Zanoni
The dissociation of N-tosylhydrazones is a safe and convenient method for the generation of donor carbenes. However, alkynyl carbenes cannot be isolated by this route because they readily undergo intramolecular cyclization to pyrazoles as soon as formed from alkynyl N-tosylhydrazones. Herein we report the use of alkynyl N-nosylhydrazones for the in situ generation of alkynyl carbenes and their coupling reaction with boronic acids under metal-free conditions, giving rise to a wide array of di- and trisubstituted allenes...
May 26, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28547679/variation-in-the-use-of-cues-to-guide-visual-working-memory
#9
Matthew K Robison, Nash Unsworth
Across two experiments we examined individual differences in the use of precues and retrocues to guide the selective encoding and maintenance of information in visual working memory (WM). In Experiment 1, we used spatial cues to indicate which item would be tested either before or after the presentation of a memory array. Regression analyses allowed us to separate variance due to visual WM capacity and attention control differences. In Experiment 2, we used categorical cues to indicate from which subset of items the tested item would be drawn, and we measured attention control with two independent tasks...
May 25, 2017: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/28547571/clinical-presentations-and-molecular-studies-of-invasive-renal-epithelioid-angiomyolipoma
#10
Cheng-Keng Chuang, Hsin Chia Angela Lin, Han-Yu Tasi, Kun-Han Lee, Yuting Kao, Fukai Leo Chuang, Ying-Hsu Chang, Po-Hung Lin, Chung-Yi Liu, See-Tong Pang
PURPOSE: Epithelioid angiomyolipoma (EAML) is a rare variant of renal angiomyolipoma with malignant potential, and the cytogenetic and clinical behavior of EAML remains a challenging issue. METHODS: We retrospectively analyze the clinical courses of five EAML, the use of everolimus on metastatic EAML, and next-generation sequencing (NGS) and polymerase chain reaction (PCR) studies to investigate the gene mutation of TSC and the impact of PI3K/Akt/mTOR signaling pathway in metastatic EAML...
May 25, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28547538/direct-and-indirect-effects-of-multilingualism-on-novel-language-learning-an-integrative-review
#11
Zoya Hirosh, Tamar Degani
Accumulated recent research suggests that prior knowledge of multiple languages leads to advantages in learning additional languages. In the current article, we review studies examining potential differences between monolingual and multilingual speakers in novel language learning in an effort to uncover the cognitive mechanisms that underlie such differences. We examine the multilingual advantage in children and adults, across a wide array of languages and learner populations. The majority of this literature focused on vocabulary learning, but studies that address phonology, grammar, and literacy learning are also discussed to provide a comprehensive picture of the way in which multilingualism affects novel language learning...
May 25, 2017: Psychonomic Bulletin & Review
https://www.readbyqxmd.com/read/28546923/homocysteine-mediates-transcriptional-changes-of-the-inflammatory-pathway-signature-genes-in-human-retinal-pigment-epithelial-cells
#12
Mahavir Singh, Suresh C Tyagi
AIM: To test whether homocysteine (Hcy) can influence the transcriptional profile, we hypothesized that Hcy can lead to the induction of proinflammatory molecules in the retinal cells of aging people. METHODS: An unbiased in vitro inflammatory pathway focused study was designed employing retinal pigment epithelial (RPE) cell line, ARPE-19. Cells were cultured in the presence or absence of Hcy to capture target genes' expression profile. Three different concentrations of Hcy were added in the culture medium of confluent monolayers...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28546899/assembly-of-metallic-nanoparticle-arrays-on-glass-via-nanoimprinting-and-thin-film-dewetting
#13
Sun-Kyu Lee, Sori Hwang, Yoon-Kee Kim, Yong-Jun Oh
We propose a nanofabrication process to generate large-area arrays of noble metal nanoparticles on glass substrates via nanoimprinting and dewetting of metallic thin films. Glass templates were made via pattern transfer from a topographic Si mold to an inorganically cross-linked sol-gel (IGSG) resist on glass using a two-layer polydimethylsiloxane (PDMS) stamp followed by annealing, which turned the imprinted resist into pure silica. The transparent, topographic glass successfully templated the assembly of Au and Ag nanoparticle arrays via thin-film deposition and dewetting at elevated temperatures...
2017: Beilstein Journal of Nanotechnology
https://www.readbyqxmd.com/read/28546892/nanoantenna-assisted-plasmonic-enhancement-of-ir-absorption-of-vibrational-modes-of-organic-molecules
#14
Alexander G Milekhin, Olga Cherkasova, Sergei A Kuznetsov, Ilya A Milekhin, Ekatherina E Rodyakina, Alexander V Latyshev, Sreetama Banerjee, Georgeta Salvan, Dietrich R T Zahn
Nanoantenna-assisted plasmonic enhancement of IR absorption and Raman scattering was employed for studying the vibrational modes in organic molecules. Ultrathin cobalt phthalocyanine films (3 nm) were deposited on Au nanoantenna arrays with specified structural parameters. The deposited organic films reveal the enhancement of both Raman scattering and IR absorption vibrational modes. To extend the possibility of implementing surface-enhanced infrared absorption (SEIRA) for biological applications, the detection and analysis of the steroid hormone cortisol was demonstrated...
2017: Beilstein Journal of Nanotechnology
https://www.readbyqxmd.com/read/28546799/lectin-array-and-glycogene-expression-analyses-of-ovarian-cancer-cell-line-a2780-and-its-cisplatin-resistant-derivate-cell-line-a2780-cp
#15
Ran Zhao, Wenjun Qin, Ruihuan Qin, Jing Han, Can Li, Yisheng Wang, Congjian Xu
BACKGROUND: Ovarian cancer is one of the most lethal gynecological malignancies, in which platinum resistance is a common cause of its relapse and death. Glycosylation has been reported to be involved in drug resistance, and glycomic analyses of ovarian cancer may improve our understanding of the mechanisms underlying cancer cell drug resistance and provide potential biomarkers and therapeutic targets. METHODS: The serous ovarian cancer cell line A2780 and its platinum-resistant counterpart A2780-cp were used in this study...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28546750/biomarkers-for-depression-recent-insights-current-challenges-and-future-prospects
#16
REVIEW
Rebecca Strawbridge, Allan H Young, Anthony J Cleare
A plethora of research has implicated hundreds of putative biomarkers for depression, but has not yet fully elucidated their roles in depressive illness or established what is abnormal in which patients and how biologic information can be used to enhance diagnosis, treatment and prognosis. This lack of progress is partially due to the nature and heterogeneity of depression, in conjunction with methodological heterogeneity within the research literature and the large array of biomarkers with potential, the expression of which often varies according to many factors...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28546686/infectious-uveitis-an-enigma
#17
Parthopratim Dutta Majumder, Avirupa Ghosh, Jyotirmay Biswas
Infectious uveitis accounts for majority of the cases of uveitis in developing countries. It also encompasses an array of various microorganisms and their clinical presentations. Some of these infectious uveitic entities are familiar, while others are newly emerging in the global ophthalmic world. Many of these entities are also a major cause of morbidity and mortality, and appropriate, timely management is required to save not the eye, but life of the patient. This review highlights the ocular manifestations of various infectious uveitic entities, relevant to the ophthalmologist...
January 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/28546381/adjunct-therapies-for-refractory-status-asthmaticus-in-children
#18
Kyle J Rehder
Asthma exacerbation is a common reason for children to present to the emergency department. If primary therapies fail to halt the progression of an asthma flare, status asthmaticus often leads to hospital, and potentially ICU, admission. Following the initial administration of inhaled β agonists and systemic corticosteroids, a wide array of adjunct medical therapies may be used to treat status asthmaticus. Unfortunately, the data supporting the use of these adjunct therapies are often unclear, conflicting, or absent...
June 2017: Respiratory Care
https://www.readbyqxmd.com/read/28546283/high-resolution-mapping-of-gastric-slow-wave-recovery-profiles-biophysical-model-methodology-and-demonstration-of-applications
#19
Niranchan Paskaranandavadivel, Leo K Cheng, Peng Du, Jack M Rogers, Gregory O'Grady
Slow waves play a central role in coordinating gastric motor activity. High-resolution mapping of extracellular potentials from the stomach provides spatiotemporal detail on normal and dysrhythmic slow-wave patterns. All mapping studies to date have focused exclusively on tissue activation; however, the recovery phase contains vital information on repolarization heterogeneity, the excitable gap, and refractory tail interactions, but has not been investigated. Here, we report a method to identify the recovery phase in slow-wave mapping data...
May 25, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28546124/stressor-driven-extracellular-acidosis-as-tumor-inducer-via-aberrant-enzyme-activation-a-review-on-the-mechanisms-and-possible-prophylaxis
#20
REVIEW
Seema Patel
When the extracellular pH of the human body vacillates in either direction, tissue homeostasis is compromised. Fluctuations in acidosis have been linked to a wide variety of pathological conditions, including bone loss, cancer, allergies, and auto-immune diseases. Stress conditions may affect oxygen tension and hypoxia modulates the expression and/or activity of membrane tethered transporters/pumps, transcription factors, enzymes and intercellular junctions. These modifications provoke erratic gene expression, aberrant tissue remodeling and oncogenesis...
May 22, 2017: Gene
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