Results 161 to 170 of about 2,699,979 (303)

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

A Color Image Encryption Scheme Using an Enhanced One-Dimensional Chaotic Map and Adaptive DNA Encoding. [PDF]

Entropy (Basel)
Jiang J, Jiao L, Liang Y, Tavares A, Wang L.   +4 more
europepmc   +1 more source

Intratumoral Gene Electrotransfer of Plasmid DNA Encoding shRNA against Melanoma Cell Adhesion Molecule Radiosensitizes Tumors by Antivascular Effects and Activation of an Immune Response. [PDF]

Vaccines (Basel), 2020
Kranjc Brezar S, Mrak V, Bosnjak M, Savarin M, Sersa G, Cemazar M.   +5 more
europepmc   +1 more source

DNA Vaccine Encoding a Modified Hemagglutinin Trimer of Avian Influenza A Virus H5N8 Protects Mice from Viral Challenge

The development of a safe and effective vaccine against avian influenza A virus (AIV) H5N8 is relevant due to the widespread distribution of this virus in the bird population and the existing potential risk of human infection, which can lead to ...
Ksenia I. Ivanova, Anastasia A. Fando, Elena V. Tigeeva, Vladimir A. Yakovlev, Andrey P. Rudometov, Lyubov A. Kisakova, Ekaterina V. Starostina, Tatiana N. Ilyicheva, Nadezhda B. Rudometova, Mariya B. Borgoyakova, Vasiliy Yu. Marchenko, Victoria R. Litvinova, Andrei S. Gudymo, Alexander A. Ilyichev, Denis N. Kisakov, Artemiy A. Sergeev, Larisa I. Karpenko   +16 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

An Oil Slick Detection Method Based on Advanced Spectral DNA Encoding Strategy by Chinese Zhuhai-1 Satellite Imagery. [PDF]

Sensors (Basel)
Zhao D, Bi L, Feng J, Gao G, Qu C.
europepmc   +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

Evaluating the effect of immunization with DNA encoding Phlebotomus sergenti apyrase protein (PsSP42) against Leishmania tropica infection in BALB/c mouse model. [PDF]

Parasit Vectors
Hosseinpour Jahednia S, Rezvan H, Sarvnaz H, Habibzadeh S, Nourian A, Taheri T, Seyed N, Gholami E, Rafati S.   +8 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Retraction Note: DNA encoding schemes herald a new age in cybersecurity for safeguarding digital assets. [PDF]

Sci Rep
Aqeel S, Khan SU, Khan AS, Alharbi M, Shah S, El Affendi M, Ahmad N.   +6 more
europepmc   +1 more source