Results 41 to 50 of about 10,567 (223)

Updated benchmarking of variant effect predictors using deep mutational scanning

Molecular Systems Biology, 2023
The assessment of variant effect predictor (VEP) performance is fraught with biases introduced by benchmarking against clinical observations. In this study, building on our previous work, we use independently generated measurements of protein function ...
Benjamin J Livesey, Joseph A Marsh
doaj   +1 more source

Impersonal Forms in Standard Veps [PDF]

Linguistica Uralica
The article examines the use of impersonal forms in Modern Standard Veps. In modern Veps dialects, there is a contamination of impersonal forms and 3pl forms: impersonal forms are used in 3pl contexts or, vice versa, 3pl forms are used in impersonal ...
Polina Oskolskaia
doaj   +1 more source

3D‐Printable, Honeycomb‐Inspired Tissue‐Like Bioelectrodes for Patient‐Specific Neural Interface

Advanced Materials, EarlyView.
3D printed MRI‐compatible tissue‐like neural electrodes tailored to individual gyral patterns. This honeycomb‐inspired printable gel electrode (HiPGE) employs a bioinspired architecture with soft hydrogels, engineered to match the softness of brain tissue.
Marzia Momin, Luyi Feng, Xiaoai Chen, Salahuddin Ahmed, Basma AlMahmood, Li‐Pang Huang, Jiashu Ren, Xinyi Wang, Hyunjin Lee, Samuel R. Cramer, Nanyin Zhang, Sulin Zhang, Tao Zhou   +12 more
wiley   +1 more source

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency [PDF]

, 2009
In mammals, increased GABA in the central nervous system has been associated with abnormalities of visual evoked potentials (VEPs), predominantly manifested as increased latency of the major positive component P100.
Blasi, P, Crutchfield, SR, Di Rosa, G, Dionisi-Vici, C, Gibson, KM, Malaspina, P, Rizzo, C, Tortorella, G   +7 more
core   +1 more source

Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model

Advanced Science, EarlyView.
A TP53‐specific predictor, CaVepP53, is developed by fine‐tuning ESMC on experimentally validated variants, quantifying pathogenicity via Euclidean distances. It outperforms general‐purpose models and extends to five cancer genes, enabling interpretable variant classification for precision medicine.
Huiying Chen, Yang Zhao, Boqiang Hu, Wuke Wang, Minfang Song, Annabeth Xinyu Zhao, Xiangyang Li, Gefei Wang, Yanfen Wang, Weiyan Zheng, Xinpeng Zhang, Xia Lin, Yanbin Yin, Xingxu Huang, Jinfang Zheng, Tingbo Liang   +15 more
wiley   +1 more source

In Vivo Photovoltaic Performance of a Silicon Nanowire Photodiode-Based Retinal Prosthesis. [PDF]

, 2018
Purpose:For more than 20 years, there has been an international, multidisciplinary effort to develop retinal prostheses to restore functional vision to patients blinded by retinal degeneration.
Akinin, Abraham, Bartsch, Dirk-Uwe, Bosse, Brandon, Cauwenberghs, Gert, Cheng, Lingyun, Damle, Samir, Freeman, William R, Jing, Yi, Lo, Yu-Hwa, Oesch, Nicholas   +9 more
core  

Motion and pattern cortical potentials in adults with high-functioning autism spectrum disorder [PDF]

, 2012
Purpose: Autism spectrum disorder (ASD) is a condition in which visual perception to both static and moving stimuli is altered. The aim of this study was to investigate the early cortical responses of subjects with ASD to simple patterns and moving ...
A Bertone, A Bertone, A Bonnel, B Chakrabarti, B Jemel, B Keehn, B St. Pourcain, C Betancur, C Jones, C Lord, D Neumann, Dermot M. Bowler, DK Shukla, Dorothy A. Thompson, DR Simmons, E Ashwin, E Courchesne, E Milne, E Milne, E Pellicano, ER Wist, F Happé, FrithU Happé, G Baird, G Baird, H Chakor, J Kremláček, J Langrová, J Robert, JS Anderson, K Koldewyn, L Mottron, LS McKay, M Bach, M Bach, M Casanova, M Kuba, M Nakamura, M Niedeggen, M O’Riordan, M O’Riordan, MB Hoffmann, MD Kaiser, ME Villalobos, MM Viva Del, MWG Vandenbroucke, Paul A. Constable, PS Lee, R Müller, S Baron-Cohen, S Dakin, S Holm, S Pitzalis, S Tsermentseli, Sebastian B. Gaigg, SP Heinrich, T Tavassoli, Y Chen, Z Kubová   +58 more
core   +1 more source

Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk

Advanced Science, EarlyView.
Integration of a pancreatic eQTL map with a GWAS meta‐analysis identifies 82 putative functional variants and 15 genes. The association between rs11102484 and pancreatic cancer risk is observed in a total of 5699 cases and 8467 controls. The G allele of rs11102484 weakens ZNF263 binding and the silencer‐promoter interaction, thereby increasing ST7L ...
Xiaoyang Wang, Hui Geng, Zhengyan Yao, Yuan Jiang, Can Chen, Zequn Lu, Shuangshuang Tian, Ming Zhang, Ruiyan Liu, Chenxi Feng, Bin Li, Xiaoping Miao, Jianbo Tian, Shaokai Zhang, Ying Zhu   +14 more
wiley   +1 more source

Volumetric electromagnetic phase-shift spectroscopy of brain edema and hematoma. [PDF]

PLoS ONE, 2013
Motivated by the need of poor and rural Mexico, where the population has limited access to advanced medical technology and services, we have developed a new paradigm for medical diagnostic based on the technology of "Volumetric Electromagnetic Phase ...
Cesar A Gonzalez, Jose A Valencia, Alfredo Mora, Fernando Gonzalez, Beatriz Velasco, Martin A Porras, Javier Salgado, Salvador M Polo, Nidiyare Hevia-Montiel, Sergio Cordero, Boris Rubinsky   +10 more
doaj   +1 more source

What Roles are There for Government in Voluntary Environmental Programmes?

, 2015
This article seeks to understand to a greater extent why and how governments are involved in voluntary environmental programmes (VEPs). A better understanding of the role(s) of government in VEPs is of relevance because the current VEP literature ...
Van der Heijden, Jeroen
core   +1 more source