Results 31 to 40 of about 136,401,589 (206)

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Shared and searchable encrypted data for untrusted servers [PDF]

, 2011
Current security mechanisms are not suitable for organisations that outsource their data management to untrusted servers. Encrypting and decrypting sensitive data at the client side is the normal approach in this situation but has high communication and ...
Dong, Changyu, Russello, Giovanni, Dulay, Naranker   +2 more
core   +4 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad, Pouya Metanat, Michael Thomas, Luke W. Bonham, Tyson Lam, Mehmet Kurt, Hong Nguyen, Tara Ellingson, Mauro Zucchelli, Stefano Casagranda, Quin Lu, Andreas M. Rauschecker, Leo Sugrue, Luis E. Savastano, Christopher P. Hess, Kamalini Ranasinghe, S. Andrew Josephson, Bruce L. Miller, Jennifer S. Yokoyama, Gil D. Rabinovici, Peter A. Ljubenkov, Lawren VandeVrede, Kambiz Nael   +22 more
wiley   +1 more source

Enabling quantitative data analysis through e-infrastructures [PDF]

, 2009
This paper discusses how quantitative data analysis in the social sciences can engage with and exploit an e-Infrastructure. We highlight how a number of activities which are central to quantitative data analysis, referred to as ‘data management’, can ...
Sinnott, Richard, Lambert, P.S., Jones, Simon, Maxwell, M., Warner, G., Gayle, V., Tan, K., Lambert, Paul, Tan, K.L.L., Tan, Koon Leai Larry, Bowes, A., Sinnott, Richard O., Bell, D.N.F., Jones, S., Blum, Jesse, Turner, K. J., Turner, K.J., Sinnott, R., Lambert, Paul S., Jones, Simon B., Warner, Guy, Lambert, P, Gayle, Vernon, Jones, S.B., Blum, J., Turner, Kenneth J, Blum, Jesse Michael, Sinnott, R.O., Turner, Ken J.   +28 more
core   +2 more sources

Interfacing Coq + SSReflect with GAP [PDF]

, 2012
Presentation slides and preprint both provided by author. Preprint published in Electronic Notes in Theoretical Computer Science: Proceedings of the 9th International Workshop On User Interfaces for Theorem Provers (UITP10).We report on an extendable ...
Komendantsky, Vladimir, Linton, Stephen Alexander, Konovalov, Alexander, Linton, Steve   +3 more
core   +1 more source

dynoGP: Deep Gaussian Processes for Dynamic System Identification

International Journal of Adaptive Control and Signal Processing, EarlyView.
This work introduces a novel class of deep models for system identification, dynamical deep Gaussian processes, which combine the strengths of data‐driven methods, such as those based on neural network architectures, with the ability to output a probability distribution for uncertainty representation.
Alessio Benavoli, Marco Forgione, Dario Piga, Marco Zaffalon   +3 more
wiley   +1 more source