Results 91 to 100 of about 114,431,160 (255)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Editorial: Non-linear analysis and machine learning in cardiology

Frontiers in Physiology, 2023
Hans Dierckx, Hans Dierckx, Xiaopeng Zhao, Elena G. Tolkacheva, Elena G. Tolkacheva, Elena G. Tolkacheva   +5 more
doaj   +1 more source

In silico Design of Truncated Omp31 Protein of Brucella melitensis: Its Cloning and High Level Expression in Escherichia coli

Vaccine Research, 2014
Introduction: Omp31 is animmunodominant and protective antigen conserved in Brucella species and a good candidate for vaccine design. Material & methods: The present study aimed at in silico design of the truncated Omp31 (TOmp31) using bioinformatic ...
Maryam Golshani, Payam Zandi, Saeid Bouzari   +2 more
doaj  

In silico characterization and homology modeling of Nile tilapia (Oreochromis niloticus) Hsp70cBi and Hsp70cBc proteins

Heliyon
The molecular chaperone heat shock proteins 70 (Hsp70) play a pivotal role in preserving cellular integrity and managing stress. This study extensively examined two Hsp70 proteins, On-Hsp70cBi, inducible, and On-Hsp70cBc, constitutively expressed, in ...
Geraldine B. Dayrit, Normela Patricia F. Burigsay, Emmanuel M. Vera Cruz, Mudjekeewis D. Santos   +3 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Computational modeling and simulation in oncology

Clinical and Translational Discovery
Computational modeling and simulation are playing an increasingly important role in oncology, bridging biological research, data science and clinical practice to better understand cancer complexity and inform therapeutic development.
Christian Baumgartner
doaj   +2 more sources

Toward the Next Generation of In Silico Modeling of Dynamic Host-Microbiota Interactions in the Skin

JID Innovations
Understanding how the skin microbiota contributes to skin health and disease requires knowledge of the dynamic interactions between the skin and its resident microbes.
Jamie Lee, Hiu Lam Athena Wu, Ahmad A. Mannan, Yuumi Nakamura, Masayuki Amagai, Alan D. Irvine, Reiko J. Tanaka   +6 more
doaj   +1 more source

Reconstruction of an in silico metabolic model of _Arabidopsis thaliana_ through database integration [PDF]

, 2009
The number of genome-scale metabolic models has been rising quickly in recent years, and the scope of their utilization encompasses a broad range of applications from metabolic engineering to biological discovery.
Karin Radrich, Albert Gevorgyan, Yoshimasa Tsuruoka, Jean-Marc Schwartz, Neil Swainston, Paul Dobson   +5 more
core  

Effects of Mg on Microstructure and Solidification of a Hypereutectic Zn–8 wt.%Al Alloy

Advanced Engineering Materials, EarlyView.
An appreciable set of results involving thermal data, microstructure, chemical composition, and microstructural growth laws is reported for ZnAlMg alloys. Such results demonstrate that ZnAlMg alloys have high potential for applications in automotive self‐lubricating components, batteries, and electrical systems.
Raí B. de Sousa, Jeverton L. Paixão, Daylla S. Silva, Bruno S. Sobral, Mucio D. de Medeiros, José E. Spinelli, Bismarck L. Silva   +6 more
wiley   +1 more source