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https://www.readbyqxmd.com/read/28944139/a-novel-cask-mutation-identified-in-siblings-exhibiting-developmental-disorders-with-without-microcephaly
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28139025/a-de-novo-splice-site-mutation-in-cask-causes-fg-syndrome-4-and-congenital-nystagmus
#12
P Dunn, G P Prigatano, S Szelinger, J Roth, A L Siniard, A M Claasen, R F Richholt, M De Both, J J Corneveaux, A M Moskowitz, C Balak, I S Piras, M Russell, A L Courtright, N Belnap, S Rangasamy, K Ramsey, J M Opitz, D W Craig, V Narayanan, M J Huentelman, I Schrauwen
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. Here we present a patient with a de novo carboxyl-terminus splice site mutation in CASK (c.2521-2A>G) and clinical features of the rare FG syndrome-4 (FGS4). We provide further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. There is considerable variability in clinical phenotype among patients with a CASK mutation, even among variants predicted to have similar functionality...
January 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28069205/study-of-a-laboratory-scaled-new-method-for-the-accelerated-continuous-ageing-of-wine-spirits-by-applying-ultrasound-energy
#13
M J Delgado-González, M M Sánchez-Guillén, M V García-Moreno, M C Rodríguez-Dodero, C García-Barroso, D A Guillén-Sánchez
During the ageing of brandies, many physicochemical processes take place involving the distilled spirit and the wood of the casks. Because of these reactions, the polyphenolic content of brandies and their content of organic acids increase with the ageing. These reactions are slow, and the ageing of high-quality brandies takes several years. In this paper, the development of a system that uses the circulation of the wine distillate through encapsulated American oak chips and the application of ultrasound energy with the aim of producing aged wine spirits has been carried out, and the influences of the operation variables over the characteristics of the produced drink have been measured...
May 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28062807/junctional-adhesion-molecule-a-expression-in-the-murine-epididymal-tract-and-accessory-organs-and-acquisition-by-maturing-sperm
#14
Kathie Z Wu, Kun Li, Deni S Galileo, Patricia A Martin-DeLeon
STUDY QUESTION: Is junctional adhesion molecule A (JAM-A), a sperm protein essential for normal motility, expressed in the murine post-testicular pathway and involved in sperm maturation? SUMMARY ANSWER: JAM-A is present in the prostate and seminal vesicles and in all three regions of the epididymis where it is secreted in epididymosomes in the luminal fluid and can be delivered to sperm in vitro. WHAT IS KNOWN ALREADY: JAM-A shares with the plasma membrane Ca2+ATPase 4 (PMCA4, the major Ca2+ efflux pump in murine sperm) a common interacting partner, CASK (Ca2+/CaM-dependent serine kinase)...
February 10, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28013231/neurexins-1-3-each-have-a-distinct-pattern-of-expression-in-the-early-developing-human-cerebral-cortex
#15
Lauren F Harkin, Susan J Lindsay, Yaobo Xu, Ayman Alzu'bi, Alexandra Ferrara, Emily A Gullon, Owen G James, Gavin J Clowry
Neurexins (NRXNs) are presynaptic terminal proteins and candidate neurodevelopmental disorder susceptibility genes; mutations presumably upset synaptic stabilization and function. However, analysis of human cortical tissue samples by RNAseq and quantitative real-time PCR at 8-12 postconceptional weeks, prior to extensive synapse formation, showed expression of all three NRXNs as well as several potential binding partners. However, the levels of expression were not identical; NRXN1 increased with age and NRXN2 levels were consistently higher than for NRXN3...
January 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28009295/a-slm2-feedback-pathway-controls-cortical-network-activity-and-mouse-behavior
#16
Ingrid Ehrmann, Matthew R Gazzara, Vittoria Pagliarini, Caroline Dalgliesh, Mahsa Kheirollahi-Chadegani, Yaobo Xu, Eleonora Cesari, Marina Danilenko, Marie Maclennan, Kate Lowdon, Tanja Vogel, Piia Keskivali-Bond, Sara Wells, Heather Cater, Philippe Fort, Mauro Santibanez-Koref, Silvia Middei, Claudio Sette, Gavin J Clowry, Yoseph Barash, Mark O Cunningham, David J Elliott
The brain is made up of trillions of synaptic connections that together form neural networks needed for normal brain function and behavior. SLM2 is a member of a conserved family of RNA binding proteins, including Sam68 and SLM1, that control splicing of Neurexin1-3 pre-mRNAs. Whether SLM2 affects neural network activity is unknown. Here, we find that SLM2 levels are maintained by a homeostatic feedback control pathway that predates the divergence of SLM2 and Sam68. SLM2 also controls the splicing of Tomosyn2, LysoPLD/ATX, Dgkb, Kif21a, and Cask, each of which are important for synapse function...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/27915032/reelin-expression-is-up-regulated-in-mice-colon-in-response-to-acute-colitis-and-provides-resistance-against-colitis
#17
Ana E Carvajal, María D Vázquez-Carretero, Pablo García-Miranda, María J Peral, María L Calonge, Anunciación A Ilundain
Reelin is an extracellular matrix protein first known for its key role in neuronal migration. Studies in rodent small intestine suggested that reelin protects the organism from intestinal pathology. Here we determined in mice colon, by real time-PCR and immunological assays, the expression of the reelin signalling system; its response to dextran sulphate sodium (DSS) and the response of wild-type and reeler mice to DSS-treatment. DNA methylation was determined by bisulfite modification and sequencing of genomic DNA...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27878445/can-non-invasive-ventilation-modify-central-venous-pressure-comparison-between-invasive-measurement-and-ultrasonographic-evaluation
#18
Maurizio Zanobetti, Alessio Prota, Alessandro Coppa, Laura Giordano, Sofia Bigiarini, Peiman Nazerian, Francesca Innocenti, Alberto Conti, Federica Trausi, Simone Vanni, Giuseppe Pepe, Riccardo Pini
Central venous pressure (CVP) is primarily measured to assess intravascular volume status and heart preload. In clinical practice, the measuring device most commonly used in emergency departments and intensive care units, is an electronic transducer that interconnects a central venous catheter (CVC) with a monitoring system. Non-invasive ventilation (NIV) consists in a breathing support that supplies a positive pressure in airways through a mask or a cask though not using an endotracheal prosthesis. In emergency settings, non-invasive ultrasonography evaluation of CVP, and hence of intravascular volume status entail the measurement by a subxiphoid approach of inferior vena cava diameter and its variations in relation to respiratory activity...
November 22, 2016: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/27866123/effect-of-a-dual-purpose-cask-payload-increment-of-spent-fuel-assemblies-from-vver-1000-bushehr-nuclear-power-plant-on-basket-criticality
#19
M Rezaeian, J Kamali
Dual-purpose casks can be utilized for dry interim storage and transportation of the highly radioactive spent fuel assemblies (SFAs) of Bushehr Nuclear Power Plant (NPP). Criticality safety analysis was carried out using the MCNP code for the cask containing 12, 18, or 19 SFAs. The basket materials of borated stainless steel and Boral (Al-B4C) were investigated, and the minimum required receptacle pitch of the basket was determined.
January 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/27799067/identification-of-a-rai1-associated-disease-network-through-integration-of-exome-sequencing-transcriptomics-and-3d-genomics
#20
Maria Nicla Loviglio, Christine R Beck, Janson J White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A Shaw, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Jacques Rougemont, Ioannis Xenarios, James R Lupski, Alexandre Reymond
BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes...
November 1, 2016: Genome Medicine
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