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https://www.readbyqxmd.com/read/28641744/polygenic-risk-score-and-heritability-estimates-reveals-a-genetic-relationship-between-asd-and-ocd
#1
W Guo, J F Samuels, Y Wang, H Cao, M Ritter, P S Nestadt, J Krasnow, B D Greenberg, A J Fyer, J T McCracken, D A Geller, D L Murphy, J A Knowles, M A Grados, M A Riddle, S A Rasmussen, N C McLaughlin, E L Nurmi, K D Askland, B A Cullen, J Piacentini, D L Pauls, O J Bienvenu, S E Stewart, F S Goes, B Maher, A E Pulver, D Valle, M Mattheisen, J Qian, G Nestadt, Y Y Shugart
Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions...
July 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28641117/structural-components-of-nuclear-integrity-with-gene-regulatory-potential
#2
REVIEW
Kelli D Fenelon, Sevan Hopyan
The nucleus is a mechanosensitive and load-bearing structure. Structural components of the nucleus interact to maintain nuclear integrity and have become subjects of exciting research that is relevant to cell and developmental biology. Here we outline the boundaries of what is known about key architectural elements within the nucleus and highlight their potential structural and transcriptional regulatory functions.
June 19, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28639124/low-grade-papillary-schneiderian-carcinoma-a-case-report
#3
Hui-Jeong Jeong, Jin Roh, Bong-Jae Lee, Kyung-Ja Cho
The nasal cavity and paranasal sinuses are covered with ciliated respiratory mucosa of ectodermal origin, known as Schneiderian epithelium, which can give rise to different types of sinonasal carcinomas. A 42-year-old woman with a history of nasal polypectomy 3 years previously presented with nasal obstruction and rhinorrhea. She was found to have a papillary mass involving the left nasal cavity, and the left maxillary and ethmoidal sinuses by radiologic examination. She underwent endonasal resection under the diagnosis of oncocytic papilloma...
June 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28637875/coupled-feedback-loops-control-the-stimulus-dependent-dynamics-of-the-yeast-transcription-factor-msn2
#4
Yanfei Jiang, Zohreh AkhavanAghdam, Lev S Tsimring, Nan Hao
Information about environmental stimuli often can be encoded by the dynamics of signaling molecules or transcription factors. In the yeast Saccharomyces cerevisiae, different types of stresses induce distinct nuclear translocation dynamics of the general stress-responsive transcription factor Msn2, but the underlying mechanisms remain unclear. Using deterministic and stochastic modeling, we reproduced in silico the different dynamic responses of Msn2 to glucose limitation and osmotic stress observed in vivo and found that a positive feedback loop on protein kinase A mediated by the AMP-activated protein kinase Snf1 is coupled with a negative feedback loop to generate the characteristic pulsatile dynamics of Msn2...
June 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28636597/phase-separation-drives-heterochromatin-domain-formation
#5
Amy R Strom, Alexander V Emelyanov, Mustafa Mir, Dmitry V Fyodorov, Xavier Darzacq, Gary H Karpen
Constitutive heterochromatin is an important component of eukaryotic genomes that has essential roles in nuclear architecture, DNA repair and genome stability, and silencing of transposon and gene expression. Heterochromatin is highly enriched for repetitive sequences, and is defined epigenetically by methylation of histone H3 at lysine 9 and recruitment of its binding partner heterochromatin protein 1 (HP1). A prevalent view of heterochromatic silencing is that these and associated factors lead to chromatin compaction, resulting in steric exclusion of regulatory proteins such as RNA polymerase from the underlying DNA...
June 21, 2017: Nature
https://www.readbyqxmd.com/read/28627394/novel-non-canonical-genetic-rearrangements-termed-complex-structural-variations-in-hbv-genome
#6
Kei Fujiwara, Kayoko Matsunami, Etsuko Iio, Shunsuke Nojiri, Takashi Joh
BACKGROUNDS AND AIMS: Chronic hepatitis B virus (HBV) infection is an important worldwide public health issue. Further knowledge on the characteristics of HBV will facilitate its eradication. Genome structural variations (SVs) are defined by its canonical form such as duplication, deletion, and insertion. However, recent studies have reported complex SVs that cannot be explained by those canonical SVs. A HBV strain (UK2) with an unusual genome structure rearrangement that was completely different from known mutations or rearrangements was previously reported...
June 13, 2017: Virus Research
https://www.readbyqxmd.com/read/28624666/the-nuclear-pore-complex-core-scaffold-and-permeability-barrier-variations-of-a-common-theme
#7
REVIEW
Ryo Hayama, Michael P Rout, Javier Fernandez-Martinez
The study of the nuclear pore complex (NPC) is a fascinating endeavor, as it not only implies uncovering the 'engineering marvel' of its architecture and function, but also provides a key window into a significant evolutionary event: the origin of the eukaryotic cell. The combined efforts of many groups in the field, with the help of novel methodologies and new model organisms, are facilitating a much deeper understanding of this complex assembly. Here we cover recent advances on the characterization of the structure of the NPC scaffold and of the biophysical mechanisms that define the permeability barrier...
June 15, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28624062/diosmetin-protects-against-ischemia-reperfusion-induced-acute-kidney-injury-in-mice
#8
Kang Yang, Wei-Fang Li, Jun-Feng Yu, Cheng Yi, Wei-Feng Huang
BACKGROUND: Renal ischemia/reperfusion (I/R)-induced acute kidney injury remains to be a troublesome condition in clinical practice. Although the exact molecular mechanisms underlying renal I/R injury are incompletely understood, the deleterious progress of renal I/R injury involves inflammation, apoptosis, and oxidative stress. Diosmetin is a member of the flavonoid glycosides family, which suppresses the inflammatory response and cellular apoptosis and enhances antioxidant activity...
June 15, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28618022/utility-of-a-formatted-pathologic-reporting-system-in-thyroid-core-needle-biopsy-a-validation-study-of-1998-consecutive-cases
#9
Ji-Young Choe, Yoonjin Kwak, Mimi Kim, Yul Ri Chung, Hyun Jeong Kim, Yeo Koon Kim, So Yeon Park
OBJECTIVE: Thyroid core needle biopsy (CNB) is increasingly being used as a tool for evaluating thyroid nodules; thus, standardization of its diagnostic terminology is called for. We aimed to analyze the pathologic reporting system of thyroid CNB based on the recently proposed protocol by the Korean Endocrine Pathology Thyroid Core Needle Biopsy Study Group and evaluate its usefulness. DESIGN/METHODS: 1998 consecutive cases of thyroid CNBs were reviewed and divided into 6 categories according to the protocol...
June 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28617832/a-tale-inspired-computational-screen-for-proteins-that-contain-approximate-tandem-repeats
#10
Malgorzata Perycz, Joanna Krwawicz, Matthias Bochtler
TAL (transcription activator-like) effectors (TALEs) are bacterial proteins that are secreted from bacteria to plant cells to act as transcriptional activators. TALEs and related proteins (RipTALs, BurrH, MOrTL1 and MOrTL2) contain approximate tandem repeats that differ in conserved positions that define specificity. Using PERL, we screened ~47 million protein sequences for TALE-like architecture characterized by approximate tandem repeats (between 30 and 43 amino acids in length) and sequence variability in conserved positions, without requiring sequence similarity to TALEs...
2017: PloS One
https://www.readbyqxmd.com/read/28615210/a-conserved-leucine-zipper-motif-in-gammaherpesvirus-orf52-is-critical-for-distinct-microtubule-rearrangements
#11
Matthew S Loftus, Nancy Verville, Dean H Kedes
Productive viral infection often depends on manipulation of the cytoskeleton. Herpesviruses, including Rhesus monkey rhadinovirus (RRV) and its close homolog the oncogenic human gammaherpesvirus, Kaposi's sarcoma-associated herpesvirus (KSHV/HHV8), exploit microtubule-based retrograde transport to deliver their genomes to the nucleus. Subsequently, during the lytic phase of the life cycle, the maturing viral particles undergo orchestrated translocation to specialized regions within the cytoplasm, leading to tegumentation, secondary envelopment, and then egress...
June 14, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28614950/grafting-of-architecture-controlled-poly-styrene-sodium-sulfonate-onto-titanium-surfaces-using-bio-adhesive-molecules-surface-characterization-and-biological-properties
#12
Hamza Chouirfa, Margaret D M Evans, David G Castner, Penny Bean, Dimitri Mercier, Anouk Galtayries, Céline Falentin-Daudré, Véronique Migonney
This contribution reports on grafting of bioactive polymers such as poly(sodium styrene sulfonate) (polyNaSS) onto titanium (Ti) surfaces. This grafting process uses a modified dopamine as an anchor molecule to link polyNaSS to the Ti surface. The grafting process combines reversible addition-fragmentation chain transfer polymerization, postpolymerization modification, and thiol-ene chemistry. The first step in the process is to synthetize architecture controlled polyNaSS with a thiol end group. The second step is the adhesion of the dopamine acrylamide (DA) anchor onto the Ti surfaces...
June 14, 2017: Biointerphases
https://www.readbyqxmd.com/read/28613329/mono-and-di-nuclear-re-i-complexes-and-the-role-of-protonable-nitrogen-atoms-in-quenching-emission-by-hydroquinone
#13
Karina P Morelli Frin, Rafael M de Almeida
Mono-nuclear fac-[Re(CO)3(ph2phen)(4,4'-bpy)](+) and di-nuclear [(ph2phen)(CO)3Re(4,4'-bpy)Re(ph2phen)(CO)3](2+) complexes, ph2phen = 4,7-diphenyl-1,10-phenanthroline and 4,4'-bpy = 4,4'-bipyridine, were synthesized and characterized by (1)H NMR, UV-visible and FT-IR spectroscopy. Also, their photophysical properties were investigated using steady-state and time-resolved emission spectroscopy. Both complexes showed UV absorption assigned to intraligand, (1)ILph2phen, and metal-to-ligand charge transfer, (1)MLCTRe→ph2phen, transitions, and typical (3)MLCTRe→ph2phen emission (ϕ = 0...
June 14, 2017: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/28603994/electronic-delocalization-vibrational-dynamics-and-energy-transfer-in-organic-chromophores
#14
Tammie R Nelson, Sebastian Fernandez-Alberti, Adrian E Roitberg, Sergei Tretiak
The efficiency of materials developed for solar energy and technological applications depends on the interplay between molecular architecture and light-induced electronic energy redistribution. The spatial localization of electronic excitations is very sensitive to molecular distortions. Vibrational nuclear motions can couple to electronic dynamics driving changes in localization. The electronic energy transfer among multiple chromophores arises from several distinct mechanisms that can give rise to experimentally measured signals...
June 12, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28603560/histone-deacetylase-inhibitors-potentiate-photodynamic-therapy-in-colon-cancer-cells-marked-by-chromatin-mediated-epigenetic-regulation-of-cdkn1a
#15
Andrea Halaburková, Rastislav Jendželovský, Ján Kovaľ, Zdenko Herceg, Peter Fedoročko, Akram Ghantous
BACKGROUND: Hypericin-mediated photodynamic therapy (HY-PDT) has recently captured increased attention as an alternative minimally invasive anticancer treatment, although cancer cells may acquire resistance. Therefore, combination treatments may be necessary to enhance HY-PDT efficacy. Histone deacetylase inhibitors (HDACis) are often used in combination treatments due to their non-genotoxic properties and epigenetic potential to sensitize cells to external stimuli. Therefore, this study attempts for the first time to investigate the therapeutic effects of HDACis in combination with visible light-mediated PDT against cancer...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28595999/p63-transcription-factor-regulates-nuclear-shape-and-expression-of-nuclear-envelope-associated-genes-in-epidermal-keratinocytes
#16
Valentina Rapisarda, Igor Malashchuk, Inemo E Asamaowei, Krzysztof Poterlowicz, Michael Y Fessing, Andrey A Sharov, Iakowos Karakesisoglou, Vladimir A Botchkarev, Andrei Mardaryev
The maintenance of a proper nuclear architecture and 3D organization of the genes, enhancer elements and transcription machinery plays an essential role in tissue development and regeneration. Here we show that in the developing skin, epidermal progenitor cells of mice lacking p63 transcription factor display alterations in the nuclear shape accompanied by marked decrease in expression of several nuclear envelop-associated components (Lamin B1, Lamin A/C, SUN1, Nesprin-3, Plectin) compared to controls. Furthermore, ChIP-qPCR assay showed enrichment of p63 on Sun1, Syne3 and Plec promoters, suggesting them as p63 targets...
June 5, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28593374/chromatin-loops-and-causality-loops-the-influence-of-rna-upon-spatial-nuclear-architecture
#17
REVIEW
Iain A Sawyer, Miroslav Dundr
An intrinsic and essential trait exhibited by cells is the properly coordinated and integrated regulation of an astoundingly large number of simultaneous molecular decisions and reactions to maintain biochemical homeostasis. This is especially true inside the cell nucleus, where the recognition of DNA and RNA by a vast range of nucleic acid-interacting proteins organizes gene expression patterns. However, this dynamic system is not regulated by simple "on" or "off" signals. Instead, transcription factor and RNA polymerase recruitment to DNA are influenced by the local chromatin and epigenetic environment, a gene's relative position within the nucleus and the action of noncoding RNAs...
June 7, 2017: Chromosoma
https://www.readbyqxmd.com/read/28591689/detrimental-effects-of-atherogenic-and-high-fat-diet-on-bone-and-aortic-calcification-rescued-by-an-isoflavonoid-caviunin-%C3%AE-d-glucopyranoside
#18
Dharmendra Choudhary, Sulekha Adhikary, Jyoti Gautam, Preeti Maurya, Naseer Ahmad, Priyanka Kushwaha, Mohd Parvez Khan, Avinash Kumar, Manoj Barthwal, Rakesh Maurya, Ritu Trivedi
OBJECTIVE: Atherogenic diet (AD) and high fat diet (HFD) cause deleterious effect on bone micro-architecture and this phenomenon prompts aortic calcification. This study aims to show the effects of Caviunin β-d-glucopyranoside (CAFG), against bone loss and its associated aortic calcification in presence of AD and HFD challenged diets. METHODS: Five groups of C57BL/6 male mice with 8 animals in each group, comprising of chow, AD, HFD, AD+CAFG and HFD+CAFG were fed with respective diets for 16 weeks...
June 4, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28583948/lysinibacillus-fusiformis-m5-induces-increased-complexity-in-bacillus-subtilis-168-colony-biofilms-via-hypoxanthine
#19
Ramses Gallegos-Monterrosa, Stefanie Kankel, Sebastian Götze, Robert Barnett, Pierre Stallforth, Ákos T Kovács
In recent years, biofilms have become a central subject of research in the fields of microbiology, medicine, agriculture, or systems biology amongst others. The sociomicrobiology of multispecies biofilms, however, is still poorly understood. Here, we report a screening system that allowed us to identify soil bacteria, which induce architectural changes in biofilm colonies when cocultured with B. subtilis We identified the soil bacterium Lysinibacillus fusiformis M5 as inducer of wrinkle-formation in B. subtilis colonies mediated by a diffusible signaling molecule...
June 5, 2017: Journal of Bacteriology
https://www.readbyqxmd.com/read/28582348/phenotypic-intratumoral-heterogeneity-of-endometrial-carcinomas
#20
Cátia Silva, Ana S Pires-Luís, Eduardo Rocha, Carla Bartosch, José M Lopes
Intratumoral heterogeneity has been shown to play an important role in diagnostic accuracy, development of treatment resistance, and prognosis of cancer patients. Recent studies have proposed quantitative measurement of phenotypic intratumoral heterogeneity, but no study is yet available in endometrial carcinomas. In our study we evaluated the phenotypic intratumoral heterogeneity of a consecutive series of 10 endometrial carcinomas using measures of dispersion and diversity. Morphometric architectural (%tumor cells, %solid tumor, %differentiated tumor, and %lumens) and nuclear [volume-weighted mean nuclear volume (ν¯v)] parameters, as well as estrogen receptor, progesterone receptor, p53, vimentin, and beta-catenin immunoexpression (H-score) were digitally analyzed in 20 microscopic fields per carcinoma...
June 2, 2017: International Journal of Gynecological Pathology
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