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https://www.readbyqxmd.com/read/29426960/two-microcephaly-associated-novel-missense-mutations-in-cask-specifically-disrupt-the-cask-neurexin-interaction
#1
Leslie E W LaConte, Vrushali Chavan, Abdallah F Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherjee
Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, however, has not been directly tested. Missense variants in CASK are typically asymptomatic in girls. We report three severely affected girls with heterozygous CASK missense mutations (M519T (2), G659D (1)) who exhibit ID, microcephaly, and hindbrain hypoplasia...
February 9, 2018: Human Genetics
https://www.readbyqxmd.com/read/29353195/neutron-field-characterization-at-the-independent-spent-fuel-storage-installation-of-the-trillo-nuclear-power-plant
#2
Xandra Campo, Roberto Méndez, Miguel Embid, Alberto Ortego, Manuel Novo, Javier Sanz
Neutron fields inside and outside the independent spent fuel storage installation of Trillo Nuclear Power Plant are characterized exhaustively in terms of neutron spectra and ambient dose equivalent, measured by Bonner sphere system and LB6411 monitor. Measurements are consistent with storage casks and building shield characteristics, and also with casks distribution inside the building. Outer values at least five times lower than dose limit for free access area are found. Measurements with LB6411 and spectrometer are consistent with each other...
January 10, 2018: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/29352086/temporal-and-spatial-distribution-of-the-acetic-acid-bacteria-communities-throughout-the-wooden-casks-used-for-the-fermentation-and-maturation-of-lambic-beer-underlines-their-functional-role
#3
J De Roos, M Verce, M Aerts, P Vandamme, L De Vuyst
Few data have been published on the occurrence and functional role of acetic acid bacteria (AAB) in lambic beer production processes, mainly due to their difficult recovery and possibly unknown role. Therefore, a novel aseptic sampling method, spanning both the spatial and temporal distribution of AAB and their substrates and metabolites, was combined with a highly selective medium and matrix-assisted laser desorption time-of-flight mass spectrometry (MALDI TOF MS) as a high-throughput dereplication method followed by comparative gene sequencing for their isolation and identification, respectively...
January 19, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29325930/integrated-study-on-comparative-transcriptome-and-skeletal-muscle-function-in-aged-rats
#4
Jing Zhou, Zhiyin Liao, Jinliang Chen, Kexiang Zhao, Qian Xiao
The present study aimed to reveal aging-related changes in the skeletal muscle of SD rats by comparing transcriptome analysis, integrated with muscle physiological parameters. Ten rats aged 25 months were set as the old group (OG) and ten rats aged 6 months were set as the young group (YG). After 6 weeks of feeding, the body mass, grip strength, and gastrocnemius muscle mass were determined, and the differentially expressed genes were analyzed by transcriptome sequencing, followed by GO enrichment analysis and KEGG analysis...
January 8, 2018: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/29324721/electromagnetic-acoustic-transducers-for-robotic-nondestructive-inspection-in-harsh-environments
#5
Sungho Choi, Hwanjeong Cho, Matthew S Lindsey, Cliff J Lissenden
Elevated temperature, gamma radiation, and geometric constraints inside dry storage casks for spent nuclear fuel represent a harsh environment for nondestructive inspection of the cask and require that the inspection be conducted with a robotic system. Electromagnetic acoustic transducers (EMATs) using non-contact ultrasonic transduction based on the Lorentz force to excite/receive ultrasonic waves are suited for use in the robotic inspection. Periodic permanent magnet EMATs that actuate/receive shear horizontal guided waves are developed for application to robotic nondestructive inspection of stress corrosion cracks in the heat affected zone of welds in stainless steel dry storage canisters...
January 11, 2018: Sensors
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#6
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#7
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29138001/pdz-ligand-binding-induced-conformational-coupling-of-the-pdz-sh3-gk-tandems-in-psd-95-family-maguks
#8
Menglong Zeng, Fei Ye, Jia Xu, Mingjie Zhang
DLG MAGUKs are abundantly expressed in glutamatergic synapses, crucial for synaptic transmission and plasticity by anchoring various postsynaptic components including glutamate receptors, downstream scaffold proteins and signaling enzymes. Different DLG members have shared structures and functions, but also contain unique features. How DLG family proteins function individually and cooperatively are largely unknown. Here, we report that PSD-95 PDZ3 directly couples with SH3-GK tandem in a PDZ ligand binding-dependent manner, and the coupling can promote PSD-95 dimerization and multimerization...
November 11, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29067402/optic-nerve-hypoplasia-is-a-pervasive-subcortical-pathology-of-visual-system-in-neonates
#9
Chen Liang, Alicia Kerr, Yangfengzhong Qiu, Francesca Cristofoli, Hilde Van Esch, Michael A Fox, Konark Mukherjee
Purpose: Optic nerve hypoplasia (ONH) is the most common cause of childhood congenital blindness in developed nations, yet the fundamental pathobiology of ONH remains unknown. The objective of this study was to employ a 'face validated' murine model to determine the timing of onset and the pathologic characteristics of ONH. Methods: Based on the robust linkage between X-linked CASK haploinsufficiency and clinically diagnosed ONH, we hypothesized that heterozygous deletion of CASK (CASK(+/-)) in rodents will produce an optic nerve pathology closely recapitulating ONH...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28944139/a-novel-cask-mutation-identified-in-siblings-exhibiting-developmental-disorders-with-without-microcephaly
#10
Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, Satoshi Kudo, Haruo Shintaku, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28924877/diagnostic-approach-to-neurotransmitter-monoamine-disorders-experience-from-clinical-biochemical-and-genetic-profiles
#11
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders...
September 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28898323/-pontocerebellar-hypoplasia-secondary-to-cask-gene-deletion-case-report
#12
Lucía Rivas, Óscar Blanco, Cristina Torreira, Alfredo Repáraz, Cristina Melcón, Alfonso Amado
INTRODUCTION: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. OBJECTIVE: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28783747/comprehensive-investigation-of-cask-mutations-and-other-genetic-etiologies-in-41-patients-with-intellectual-disability-and-microcephaly-with-pontine-and-cerebellar-hypoplasia-micpch
#13
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa
The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES)...
2017: PloS One
https://www.readbyqxmd.com/read/28481730/next-generation-sequencing-reveals-novel-mutations-in-x-linked-intellectual-disability
#14
Babylakshmi Muthusamy, Lakshmi Dhevi N Selvan, Thong T Nguyen, Jesna Manoj, Eric W Stawiski, Bijay S Jaiswal, Weiru Wang, Remya Raja, Vedam Laxmi Ramprasad, Ravi Gupta, Sakthivel Murugan, Jayarama S Kadandale, T S Keshava Prasad, Kavita Reddy, Andrew Peterson, Akhilesh Pandey, Somasekar Seshagiri, Satish Chandra Girimaji, Harsha Gowda
Robust diagnostics for many human genetic disorders are much needed in the pursuit of global personalized medicine. Next-generation sequencing now offers new promise for biomarker and diagnostic discovery, in developed as well as resource-limited countries. In this broader global health context, X-linked intellectual disability (XLID) is an inherited genetic disorder that is associated with a range of phenotypes impacting societies in both developed and developing countries. Although intellectual disability arises due to diverse causes, a substantial proportion is caused by genomic alterations...
May 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28472493/calculation-of-dose-rates-at-the-surface-of-storage-containers-for-high-level-radioactive-waste
#15
Erik Poenitz, Clemens Walther
In several countries, the high-level radioactive waste that will be disposed of in deep geological formations has to be retrievable for a certain time. Since 2010, retrievability is required for the operation phase of a repository also in Germany. Depending on the effort and the feasibility of remote handling, a certain exposure of the involved employees to ionising radiation is caused. The estimation of the exposure requires the knowledge of the inventory of radionuclides and the radiation field around the storage containers...
May 2, 2017: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/28434201/how-much-alcohol-is-consumed-outside-of-the-lifetime-risk-guidelines-in-australia
#16
Sarah Callinan, Michael Livingston, Robin Room, Paul M Dietze
INTRODUCTION AND AIMS: This study aims to estimate the prevalence of long-term risky drinking within the Australian population and the proportion of standard drinks that is consumed outside of the long-term risk (LTR) guidelines of two Australian standard drinks (ASD) per day. DESIGN AND METHODS: Recruited by phone, 2020 Australian adults with an oversampling of risky drinkers were asked detailed questions about how much alcohol they consumed at a range of locations in 2013...
April 23, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28406345/not-your-typical-alcohol-accord-the-long-term-impact-of-a-voluntary-liquor-agreement-in-a-small-australian-town
#17
Richard Midford, John McKenzie, Rachel Mayhead
BACKGROUND: The town of Norseman introduced a Voluntary Liquor Agreement (voluntary restrictions on alcohol sales) in 2008, to reduce problematic drinking. This study examined its long-term impact. METHODS: Quantitative data on alcohol (cask wine, fortified wine, spirits) wholesale sales, hospital emergency visits and alcohol related offenses were compared from before to after the introduction of the restrictions. Qualitative interview data were collected from 10 key informants and from focus groups with Indigenous residents...
April 13, 2017: Substance Use & Misuse
https://www.readbyqxmd.com/read/28394603/computational-design-of-the-tiam1-pdz-domain-and-its-ligand-binding
#18
David Mignon, Nicolas Panel, Xingyu Chen, Ernesto J Fuentes, Thomas Simonson
PDZ domains direct protein-protein interactions and serve as models for protein design. Here, we optimized a protein design energy function for the Tiam1 and Cask PDZ domains that combines a molecular mechanics energy, Generalized Born solvent, and an empirical unfolded state model. Designed sequences were recognized as PDZ domains by the Superfamily fold recognition tool and had similarity scores comparable to natural PDZ sequences. The optimized model was used to redesign the two PDZ domains, by gradually varying the chemical potential of hydrophobic amino acids; the tendency of each position to lose or gain a hydrophobic character represents a novel hydrophobicity index...
May 9, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28299927/supramolecular-hydrogels-based-on-dna-self-assembly
#19
Yu Shao, Haoyang Jia, Tianyang Cao, Dongsheng Liu
Extracellular matrix (ECM) provides essential supports three dimensionally to the cells in living organs, including mechanical support and signal, nutrition, oxygen, and waste transportation. Thus, using hydrogels to mimic its function has attracted much attention in recent years, especially in tissue engineering, cell biology, and drug screening. However, a hydrogel system that can merit all parameters of the natural ECM is still a challenge. In the past decade, deoxyribonucleic acid (DNA) has arisen as an outstanding building material for the hydrogels, as it has unique properties compared to most synthetic or natural polymers, such as sequence designability, precise recognition, structural rigidity, and minimal toxicity...
March 16, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28298907/mir-21a-5p-contributes-to-porcine-hemagglutinating-encephalomyelitis-virus-proliferation-via-targeting-cask-interactive-protein1-in-vivo-and-vitro
#20
Xiaoling Lv, Kui Zhao, Yungang Lan, Zi Li, Ning Ding, Jingjing Su, Huijun Lu, Deguang Song, Feng Gao, Wenqi He
Porcine hemagglutinating encephalomyelitis virus (PHEV) is a highly neurovirulent coronavirus that can cause nervous symptoms in piglets with muscle tremors, hind limb paralysis, and nystagmus. Whether some factors affect virus replication and proliferation had not been fully understood in the course of nerve damage caused by PHEV infection. In recent years, some reports suggested that miRNA might play a key regulatory role in viral infection. In this study, we found the miR-21a-5p is notably up-regulated in the brains of mice and N2a cells infected with PHEV, and it down-regulated the expression of CASK-interactive protein1 (Caskin1) by directly targeting the 3'-UTR of Caskin1 using a Dual-Luciferase reporter assay...
2017: Frontiers in Microbiology
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