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The perceived causal relations between sensory reactivity differences and anxiety symptoms in autistic adults
Background: Rates of anxiety are inordinately high in autistic adults. Sensory reactivity differences, such as hyperreactivity (e.g., strong reactions to sound), hyporeactivity (e.g., no, or slower reactions to pain), and...
Sustained expansion of NKT cells and antigen-specific T cells after injection of ?-galactosyl-ceramide loaded mature dendritic cells in cancer patients
Natural killer T (NKT) cells are distinct glycolipid reactive innate lymphocytes that are implicated in the resistance to pathogens and tumors. Earlier attempts to mobilize NKT cells, specifically, in vivo in humans met with...
utoimmune disease cancer immunotherapy cytokine production Cytomegalovirus cytotoxic T lymphocyte dendritic cell natural killer cell Vaccination
Published by: Rockefeller University
“It Is a Big Spider Web of Things”
Keren MacLennan, Catherine Woolley, Emily @21andsensory, Brett Heasman, Jess Starns, Becky George, Catherine Manning
Dec 12, 2023
Background: Sensory processing differences are commonly experienced by autistic individuals, and some sensory experiences can greatly impact the mental health and quality of life of individuals. Previous research suggests that...
The perceived causal relations between sensory reactivity differences and anxiety symptoms in autistic adults
Background: Rates of anxiety are inordinately high in autistic adults. Sensory reactivity differences, such as hyperreactivity (e.g., strong reactions to sound), hyporeactivity (e.g., no, or slower reactions to pain), and...
“It Is a Big Spider Web of Things”
Keren MacLennan, Catherine Woolley, Emily @21andsensory, Brett Heasman, Jess Starns, Becky George, Catherine Manning
Dec 12, 2023
Background: Sensory processing differences are commonly experienced by autistic individuals, and some sensory experiences can greatly impact the mental health and quality of life of individuals. Previous research suggests that...
Text Mining-Based Study on Consumer Satisfaction in the Mobile Phone Market
In the current context of rapid technological advancement, smartphones have become an indispensable part of people's daily lives. This has led to an increasing focus on the satisfaction of consumers with smartphone products, as...
Published by: IGI Global Scientific Publishing
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Alba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, Amy McTague, Katy Barwick, Manju A Kurian, Sofia T Duarte, NIHR BioResource, Keren J Carss, Janet Thornton, F Lucy Raymond
Jan 15, 2020
The core of the massive cluster merger MACS J0417.5-1154 as seen by VLT/MUSE
Mathilde Jauzac, Guillaume Mahler, Alastair C. Edge, Keren Sharon, Steven Gillman, Harald Ebeling, David Harvey, Johan Richard, Stephen L. Hamer, Michele Fumagalli, A. Mark Swinbank, Jean-Paul Kneib, Richard Massey, Philippe Salome
Mar 31, 2019
We present a multiwavelength analysis of the core of the massive galaxy cluster MACS J0417.5.1154 (z = 0.441). Our analysis takes advantage of Very Large Telescope/Multi-Unit Spectroscopic Explorer observations which allowthe...
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J Carss, Courtney E French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F Lucy Raymond, Detelina Grozeva
Jul 25, 2019
Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregating variants in X-linked...
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Elena V Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A Bright, Paul T Manna, Veronica Kane Dickson, Karen L Tylee, Heather J Church, J Paul Luzio, Timothy M Cox
Oct 10, 2022
Complex structural variants in Mendelian disorders
Alba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H Ouwehand, F Lucy Raymond, Keren J Carss
Feb 18, 2019
BACKGROUND: Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read...
ARID1B CDKL5 CEP78 Complex structural variant genome sequencing HNRNPU nanopore next-generation sequencing Cell Cycle Proteins DNA-Binding Proteins Female Genetic Predisposition to Disease Genome Human Genomic Structural Variation Heterogeneous-Nuclear Ribonucleoprotein U High-Throughput Nucleotide Sequencing Humans Male Mutation Protein Serine-Threonine Kinases Sequence Analysis DNA Transcription Factors
The core of the massive cluster merger MACS J0417.5-1154 as seen by VLT/MUSE
Mathilde Jauzac, Guillaume Mahler, Alastair C. Edge, Keren Sharon, Steven Gillman, Harald Ebeling, David Harvey, Johan Richard, Stephen L. Hamer, Michele Fumagalli, A. Mark Swinbank, Jean-Paul Kneib, Richard Massey, Philippe Salome
Mar 31, 2019
We present a multiwavelength analysis of the core of the massive galaxy cluster MACS J0417.5.1154 (z = 0.441). Our analysis takes advantage of Very Large Telescope/Multi-Unit Spectroscopic Explorer observations which allowthe...
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Quanli Wang, Ryan S Dhindsa, Keren Carss, Andrew R Harper, Abhishek Nag, Ioanna Tachmazidou, Dimitrios Vitsios, Sri VV Deevi, Alex Mackay, Daniel Muthas, Michael Hühn, Susan Monkley, Henric Olsson, AstraZeneca Genomics Initiative, Sebastian Wasilewski, Katherine R Smith, Ruth March, Adam Platt, Carolina Haefliger, Slavé Petrovski
Oct 26, 2021
Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variants to common disease remains relatively unexplored. The UK Biobank contains detailed...
A clinical and molecular characterisation of CRB1-associated maculopathy.
Kamron N Khan, Anthony Robson, Omar AR Mahroo, Gavin Arno, Chris F Inglehearn, Monica Armengol, Naushin Waseem, Graham E Holder, Keren J Carss, Lucy F Raymond, Andrew R Webster, Anthony T Moore, Martin McKibbin, Maria M van Genderen, James A Poulter, Michel Michaelides, UK Inherited Retinal Disease Consortium
Nov 22, 2018
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype-phenotype...
Adolescent Adult Alleles Child Child Preschool Electronic Health Records Eye Proteins Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant Newborn Macular degeneration Male Membrane Proteins Nerve Tissue Proteins Retinal Photoreceptor Cell Outer Segment Young Adult
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev Bhaskar, Panagiotis I Sergouniotis, Rachel L Taylor, Keren J Carss, Lucy FL Raymond, Michel Michaelides, Simon C Ramsden, Andrew R Webster, Graeme CM Black
Mar 23, 2018
BACKGROUND: Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these...
copy-number variation inherited retinal disease Molecular genetics next-generation sequencing Adaptor Proteins Signal Transducing Algorithms Cytoskeletal Proteins DNA Copy Number Variations Gene Duplication Gene Frequency Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Membrane Proteins Retinal Dystrophies Ribonucleoproteins Small Nuclear Workflow
Climatology of Transient Luminous Events and Lightning Observed Above Europe and the Mediterranean Sea
Enrico Arnone, Jozsef Bor, Olivier Chanrion, Veronika Barta, Stefano Dietrich, Carl-Fredrik Enell, Thomas Farges, Martin Fullekrug, Antti Kero, Roberto Labanti, Antti Makela, Keren Mezuman, Anna Odzimek, Martin Popek, Marco Prevedelli, Marco Ridolfi, Serge Soula, Oscar van der Velde, Yoav Yair, Torsten Neubert
Mar 31, 2020
In 1999, the first sprites were observed above European thunderstorms using sensitive cameras. Since then, Eurosprite campaigns have been conducted to observe sprites and other transient luminous events (TLEs), expanding into a...
Climatology of Transient Luminous Events and Lightning Observed Above Europe and the Mediterranean Sea
Enrico Arnone, Jozsef Bor, Olivier Chanrion, Veronika Barta, Stefano Dietrich, Carl-Fredrik Enell, Thomas Farges, Martin Fullekrug, Antti Kero, Roberto Labanti, Antti Makela, Keren Mezuman, Anna Odzimek, Martin Popek, Marco Prevedelli, Marco Ridolfi, Serge Soula, Oscar van der Velde, Yoav Yair, Torsten Neubert
Mar 31, 2020
In 1999, the first sprites were observed above European thunderstorms using sensitive cameras. Since then, Eurosprite campaigns have been conducted to observe sprites and other transient luminous events (TLEs), expanding into a...
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James AB Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X-linked Mental Retardation Project, UK10K consortium, GOLD Consortium, Matthew Hurles, F Lucy Raymond
Sep 15, 2015
Mendelian disease developmental delay Intellectual Disability next-generation sequencing Alleles Cohort Studies Computational Biology Female Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Inheritance Patterns Intellectual Disability Male Mutation Polymorphism Single Nucleotide
Unveiling unconventional magnetism at the surface of Sr2RuO4.
R Fittipaldi, R Hartmann, MT Mercaldo, S Komori, A Bjørlig, W Kyung, Y Yasui, T Miyoshi, LAB Olde Olthof, CM Palomares Garcia, V Granata, I Keren, W Higemoto, A Suter, T Prokscha, A Romano, C Noce, C Kim, Y Maeno, E Scheer, B Kalisky, JWA Robinson, M Cuoco, Z Salman, A Vecchione, A Di Bernardo
Nov 05, 2021
Materials with strongly correlated electrons often exhibit interesting physical properties. An example of these materials is the layered oxide perovskite Sr2RuO4, which has been intensively investigated due to its unusual...
Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia
Henri JMM Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico De Vita, Arron WS Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Masellis, Genetic Frontotemporal dementia Initiative (GENFI)
Mar 25, 2019
Genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, C9orf72, GRN or MAPT, with presymptomatic carriers from families representing those at risk. While cerebral blood flow shows differences...
arterial spin labelling cerebral blood flow genetic frontotemporal dementia presymptomatic biomarker Adult Aged Brain C9orf72 Protein Cerebrovascular Circulation Cross-Sectional Studies Female frontotemporal dementia Heterozygote Humans Magnetic Resonance Imaging Male Middle Aged Mutation Neuropsychological Tests Progranulins tau Proteins
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