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https://www.readbyqxmd.com/read/29422660/deep-intronic-variation-in-splicing-regulatory-element-of-the-ercc8-gene-associated-with-severe-but-long-term-survival-cockayne-syndrome
#1
Audrey Schalk, Géraldine Greff, Nathalie Drouot, Cathy Obringer, Hélène Dollfus, Vincent Laugel, Jamel Chelly, Nadège Calmels
Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity. This rare disease is linked to disease-causing variations in the ERCC6 (CSB) and ERCC8 (CSA) genes. Various degrees of severity have been described according to age at onset and survival, without any clear genotype-phenotype correlation. All types of nucleotide changes have been observed in CS genes, including splice variations mainly affecting the splice site consensus sequences...
February 8, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29417712/structure-and-cis-regulatory-analysis-of-a-drosophila-grainyhead-neuroblast-enhancer
#2
Alexander Kuzin, Svetlana Smith, Thomas Brody, Ward F Odenwald
Evolutionary analysis of cis-regulatory DNA reveals that enhancers consist of clusters of conserved sequence blocks (CSBs) that are made up of both unique and repeated sequence elements. Our goal has been to address aspects of Drosophila neuroblast (NB) enhancer structure, including the basis for their spatial and temporal regulation and the functional significance of their individual CSBs. A search for temporally restricted CNS NB enhancers identified one within the transcription factor grainyhead (grh) gene locus...
February 8, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29411336/central-sleep-apnea-with-cheyne-stokes-breathing-in-heart-failure-from-research-to-clinical-practice-and-beyond
#3
K Terziyski, A Draganova
Characterized by periodic crescendo-decrescendo pattern of breathing alternating with central apneas, Central sleep apnea (CSA) with Cheyne-Stokes Breathing represents a highly prevalent, yet underdiagnosed comorbidity in chronic heart failure (CHF). A diverse body of evidence demonstrates increased morbidity and mortality in the presence of CSB. CSB has been described in both CHF patients with preserved and reduced ejection fraction, regardless of drug treatment. Risk factors for CSB are older age, male gender, high BMI, atrial fibrillation and hypocapnia...
February 7, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29338261/on-the-nature-of-the-three-electron-bond
#4
David Danovich, Cina Foroutan-Nejad, Philippe Charles Hiberty, Sason Shaik
We analyze the properties of fifteen 3-electron bonds, which include σ-3-electron-bonds, such as dihalide radical anions and di-Noble gas radical cations, π-3-electron-bonds as in hydrazine-radical cation, and doubly-π-(3e)-bonded species such as O2, FeO+, S2, etc. The primary analytical tool is the breathing-orbital valence-bond (BOVB) method, which enables us to quantify the charge-shift resonance energy (RECS) of the 3-electrons, and the bond dissociation energies (De). BOVB is tested reliable against MRCI calculations...
January 16, 2018: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29333201/dispositional-mindfulness-shame-and-compulsive-sexual-behaviors-among-men-in-residential-treatment-for-substance-use-disorders
#5
Meagan J Brem, Ryan C Shorey, Scott Anderson, Gregory L Stuart
Approximately 31% of men in treatment for a substance use disorders (SUD) engage in compulsive sexual behavior (CSB). Shame, a well-documented consequence of CSB, increases the likelihood of relapse following treatment for SUDs. Despite the risk of relapse, prior research has not investigated factors that may attenuate the relation between CSB and shame. Dispositional mindfulness is one such factor known to mitigate shame. However, researchers have yet to examine dispositional mindfulness as a moderator of the relationship between CSB and shame among a sample of men in treatment for SUDs...
December 2017: Mindfulness
https://www.readbyqxmd.com/read/29322938/mdd-carb-a-combinatorial-model-for-the-identification-of-protein-carbonylation-sites-with-substrate-motifs
#6
Hui-Ju Kao, Shun-Long Weng, Kai-Yao Huang, Fergie Joanda Kaunang, Justin Bo-Kai Hsu, Chien-Hsun Huang, Tzong-Yi Lee
BACKGROUND: Carbonylation, which takes place through oxidation of reactive oxygen species (ROS) on specific residues, is an irreversibly oxidative modification of proteins. It has been reported that the carbonylation is related to a number of metabolic or aging diseases including diabetes, chronic lung disease, Parkinson's disease, and Alzheimer's disease. Due to the lack of computational methods dedicated to exploring motif signatures of protein carbonylation sites, we were motivated to exploit an iterative statistical method to characterize and identify carbonylated sites with motif signatures...
December 21, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29322920/investigation-and-identification-of-functional-post-translational-modification-sites-associated-with-drug-binding-and-protein-protein-interactions
#7
Min-Gang Su, Julia Tzu-Ya Weng, Justin Bo-Kai Hsu, Kai-Yao Huang, Yu-Hsiang Chi, Tzong-Yi Lee
BACKGROUND: Protein post-translational modification (PTM) plays an essential role in various cellular processes that modulates the physical and chemical properties, folding, conformation, stability and activity of proteins, thereby modifying the functions of proteins. The improved throughput of mass spectrometry (MS) or MS/MS technology has not only brought about a surge in proteome-scale studies, but also contributed to a fruitful list of identified PTMs. However, with the increase in the number of identified PTMs, perhaps the more crucial question is what kind of biological mechanisms these PTMs are involved in...
December 21, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29305777/glycosaminoglycans-from-bovine-eye-vitreous-humour-and-interaction-with-collagen-type-ii
#8
Yanfei Peng, Yanlei Yu, Lei Lin, Xinyue Liu, Xing Zhang, Peipei Wang, Pauline Hoffman, So Young Kim, Fuming Zhang, Robert J Linhardt
Glycosaminoglycans (GAGs) play an important role in stabilizing the gel state of eye vitreous humour. In this study, the composition of GAGs present in bovine eye vitreous was characterized through disaccharide analysis by liquid chromatography-mass spectrometry. The interaction of GAGs with collagen type II was assessed using surface plasmon resonance (SPR). The percentage of hyaluronic acid (HA), chondroitin sulfate (CS) and heparan sulfate (HS), of total GAG, were 96.2%, 3.5% and 0.3%, respectively. The disaccharide composition of CS consisted of 4S (49%), 0S (38%) 6S (12%), 2S6S (1...
January 5, 2018: Glycoconjugate Journal
https://www.readbyqxmd.com/read/29282293/rna-polymerase-ii-is-released-from-the-dna-template-during-transcription-coupled-repair-in-mammalian-cells
#9
Yi-Ying Chiou, Jinchuan Hu, Aziz Sancar, Christopher P Selby
In mammalian cells, bulky DNA adducts located in the template but not the coding strand of genes block elongation by RNA polymerase II (RNAPII). The blocked RNAPII targets these transcription-blocking adducts to undergo more rapid excision repair than adducts located elsewhere in the genome. In excision repair, coupled incisions are made in the damaged DNA strand on both sides of the adduct. The fate of RNAPII in the course of this transcription-coupled repair (TCR) pathway is unclear. To address the fate of RNAPII, we used methods that control transcription to initiate a discrete "wave" of elongation complexes...
December 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29281592/individual-based-compulsive-sexual-behavior-scale-its-development-and-importance-in-examining-compulsive-sexual-behavior
#10
Dr Yaniv Efrati, Professor Mario Mikulincer
Compulsive sexual behavior comprises individual-based (e.g., sexual fantasies, compulsive sexual thoughts, masturbation) and partnered (e.g., interpersonal sexual conquests, repeated infidelity) facets. Most instruments for assessing compulsive sexual behavior, however, focus less on the individual-based facet and specifically on fantasies and compulsive thoughts. In the current research, we developed and validated an individual-based compulsive sexual behavior scale (I-CSB). In Study 1 (N = 492), the factorial structure of the I-CSB was examined...
December 27, 2017: Journal of Sex & Marital Therapy
https://www.readbyqxmd.com/read/29225035/cockayne-s-syndrome-a-and-b-proteins-regulate-transcription-arrest-after-genotoxic-stress-by-promoting-atf3-degradation
#11
Alexey Epanchintsev, Federico Costanzo, Marc-Alexander Rauschendorf, Manuela Caputo, Tao Ye, Lise-Marie Donnio, Luca Proietti-de-Santis, Frederic Coin, Vincent Laugel, Jean-Marc Egly
Cockayne syndrome (CS) is caused by mutations in CSA and CSB. The CSA and CSB proteins have been linked to both promoting transcription-coupled repair and restoring transcription following DNA damage. We show that UV stress arrests transcription of approximately 70% of genes in CSA- or CSB-deficient cells due to the constitutive presence of ATF3 at CRE/ATF sites. We found that CSB, CSA/DDB1/CUL4A, and MDM2 were essential for ATF3 ubiquitination and degradation by the proteasome. ATF3 removal was concomitant with the recruitment of RNA polymerase II and the restart of transcription...
November 30, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29203878/atm-and-cdk2-control-chromatin-remodeler-csb-to-inhibit-rif1-in-dsb-repair-pathway-choice
#12
Nicole L Batenburg, John R Walker, Sylvie M Noordermeer, Nathalie Moatti, Daniel Durocher, Xu-Dong Zhu
CSB, a member of the SWI2/SNF2 superfamily, is implicated in DNA double-strand break (DSB) repair. However, how it regulates this repair process is poorly understood. Here we uncover that CSB interacts via its newly identified winged helix domain with RIF1, an effector of 53BP1, and that this interaction mediates CSB recruitment to DSBs in S phase. At DSBs, CSB remodels chromatin by evicting histones, which limits RIF1 and its effector MAD2L2 but promotes BRCA1 accumulation. The chromatin remodeling activity of CSB requires not only damage-induced phosphorylation on S10 by ATM but also cell cycle-dependent phosphorylation on S158 by cyclin A-CDK2...
December 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/29168508/structural-basis-for-the-initiation-of-eukaryotic-transcription-coupled-dna-repair
#13
Jun Xu, Indrajit Lahiri, Wei Wang, Adam Wier, Michael A Cianfrocco, Jenny Chong, Alissa A Hare, Peter B Dervan, Frank DiMaio, Andres E Leschziner, Dong Wang
Eukaryotic transcription-coupled repair (TCR) is an important and well-conserved sub-pathway of nucleotide excision repair that preferentially removes DNA lesions from the template strand that block translocation of RNA polymerase II (Pol II). Cockayne syndrome group B (CSB, also known as ERCC6) protein in humans (or its yeast orthologues, Rad26 in Saccharomyces cerevisiae and Rhp26 in Schizosaccharomyces pombe) is among the first proteins to be recruited to the lesion-arrested Pol II during the initiation of eukaryotic TCR...
November 22, 2017: Nature
https://www.readbyqxmd.com/read/29046599/we-know-the-yin-but-where-is-the-yang-toward-a-balanced-approach-on-common-source-bias-in-public-administration-scholarship
#14
Bert George, Sanjay K Pandey
Surveys have long been a dominant instrument for data collection in public administration. However, it has become widely accepted in the last decade that the usage of a self-reported instrument to measure both the independent and dependent variables results in common source bias (CSB). In turn, CSB is argued to inflate correlations between variables, resulting in biased findings. Subsequently, a narrow blinkered approach on the usage of surveys as single data source has emerged. In this article, we argue that this approach has resulted in an unbalanced perspective on CSB...
June 2017: Review of Public Personnel Administration
https://www.readbyqxmd.com/read/29040879/influence-of-sexual-behavior-of-dorper-rams-treated-with-glutamate-and-or-testosterone-on-reproductive-performance-of-anovulatory-ewes
#15
Guadalupe Calderón-Leyva, Cesar A Meza-Herrera, Rafael Rodriguez-Martinez, Oscar Angel-García, Raymundo Rivas-Muñoz, Juan V Delgado-Bermejo, Francisco G Véliz-Deras
The aim of this study was to determine if exogenous administration of glutamate and (or) testosterone to male rams during the season of reproductive arrest is able to re-activate male sexual behavior and, later on, to promote through the male effect, both sexual and reproductive competence of anovulatory nulliparous ewes. Therefore, an experiment was performed under long-day photoperiods (spring; photo-reproductive arrest, 26°N). Dorper rams were randomly divided into four homogeneous experimental groups (n = 5 males each) regarding live weight (LW), body condition score (BCS), scrotal circumference (SC) and odor intensity (OI)...
January 15, 2018: Theriogenology
https://www.readbyqxmd.com/read/29037707/predominant-yeasts-in-chinese-traditional-sourdough-and-their-influence-on-aroma-formation-in-chinese-steamed-bread
#16
Tongjie Liu, Yang Li, Faizan A Sadiq, Huanyi Yang, Jingsi Gu, Lei Yuan, Yuan Kun Lee, Guoqing He
A total of 105 yeast isolates was obtained from 15 sourdough samples collected from different regions in China and subjected to random amplified polymorphic DNA (RAPD) analysis. Six species were identified including Pichia membranifaciens, which has not previously been reported in Chinese sourdoughs. Different species of yeast were used in single-culture fermentation to make Chinese steamed bread (CSB). The volatiles of the CSB were captured by solid-phase microextraction method, separated and identified by gas chromatography-mass spectrometry...
March 1, 2018: Food Chemistry
https://www.readbyqxmd.com/read/29031832/initial-brain-aging-heterogeneity-of-mitochondrial-size-is-associated-with-decline-in-complex-i-linked-respiration-in-cortex-and-hippocampus
#17
Kirsten Thomsen, Takashi Yokota, Md Mahdi Hasan-Olive, Niloofar Sherazi, Nima Borhan Fakouri, Claus Desler, Christine Elisabeth Regnell, Steen Larsen, Lene Juel Rasmussen, Flemming Dela, Linda Hildegard Bergersen, Martin Lauritzen
Brain aging is accompanied by declining mitochondrial respiration. We hypothesized that mitochondrial morphology and dynamics would reflect this decline. Using hippocampus and frontal cortex of a segmental progeroid mouse model lacking Cockayne syndrome protein B (CSB(m/m)) and C57Bl/6 (WT) controls and comparing young (2-5 months) to middle-aged mice (13-14 months), we found that complex I-linked state 3 respiration (CI) was reduced at middle age in CSB(m/m) hippocampus, but not in CSB(m/m) cortex or WT brain...
August 12, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29026502/sexual-risk-behaviors-and-condom-use-barriers-in-iranian-men-with-substance-use-disorders
#18
Effat Sadat Merghati-Khoei, Zahed Rezaei, Davood Shojaei-Zadeh, Nammam Ali Azadi, Shahnaz Rimaz, Alireza Bayat, Saeedeh Moayedi-Nia, Sanaz Omati, Farahnaz Salimi, Jeffrey Korte, Therese Killeen, Minoo Mohraz
BACKGROUND: We aimed to investigate risky sexual behaviors (RSBs) and condom use barriers in Iranian men with substance use disorders (SUDs). METHODS: Of the total 1800 outpatient drug free (ODF) and methadone maintenance treatment program (MMTP) active centers in Tehran, Iran, six were selected to participate in the current study. Data were collected (n = 300 men) using three questionnaires including a demographic questionnaire, the Risky Sexual Behavior Questionnaire (RSBQ), and the Condom Barriers Scale (CBS)...
January 2017: Addiction & Health
https://www.readbyqxmd.com/read/28934497/systematic-analysis-of-dna-crosslink-repair-pathways-during-development-and-aging-in-caenorhabditis-elegans
#19
David M Wilson, Matthias Rieckher, Ashley B Williams, Björn Schumacher
DNA interstrand crosslinks (ICLs) are generated by endogenous sources and chemotherapeutics, and pose a threat to genome stability and cell survival. Using Caenorhabditis elegans mutants, we identify DNA repair factors that protect against the genotoxicity of ICLs generated by trioxsalen/ultraviolet A (TMP/UVA) during development and aging. Mutations in nucleotide excision repair (NER) components (e.g. XPA-1 and XPF-1) imparted extreme sensitivity to TMP/UVA relative to wild-type animals, manifested as developmental arrest, defects in adult tissue morphology and functionality, and shortened lifespan...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28921842/anchorquery-rapid-online-virtual-screening-for-small-molecule-protein-protein-interaction-inhibitors
#20
David R Koes, Alexander Dömling, Carlos J Camacho
AnchorQuery ( http://anchorquery.csb.pitt.edu) is a web application for rational structure-based design of protein-protein interaction (PPI) inhibitors. A specialized variant of pharmacophore search is used to rapidly screen libraries consisting of more than 31 million synthesizable compounds biased by design to preferentially target PPIs. Every library compound is accessible through one-step multi-component reaction (MCR) chemistry and contains an anchor motif that is bioisosteric to an amino acid residue...
September 16, 2017: Protein Science: a Publication of the Protein Society
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