Results 201 to 210 of about 270,897 (278)

Artificial intelligence in the assessment of epilepsy‐related genetic mutations: Learned from GABAA receptors and GABA transporter 1

Epilepsia Open, EarlyView.
Abstract This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT‐1) encoded by SLC6A1.
Juexin Wang, Jing‐Qiong Kang
wiley   +1 more source

Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules. [PDF]

Nat Genet
Toledano I, Supek F, Lehner B.
europepmc   +1 more source

bacNeo: A Computational Toolkit for Identifying Bacteria‐Derived Neoantigens in Human Cancers

iMetaMed, EarlyView.
We present bacterial neoantigen (bacNeo), a multi‐omics‐based computational software to classify bacterial components (BACC), type bacteria‐bound HLA alleles (BACH), and prioritize bacterial peptides as neoantigens (BACP). Bacterial neoantigen potential is quantified by score for peptide antigenicity recognition & kinetics (SPARK), enabling ...
Yunzhe Wang, Li Yuan, Katie W. Gu, Xiangdong Cheng, Bo Wen, Zhao Zhang   +5 more
wiley   +1 more source

Respiratory Syncytial Virus Under the Lens of Structure: From Prefusion Stabilization to Next‐Generation Immunotherapies

iNew Medicine, EarlyView.
This illustration integrates key concepts covered in the review, including high‐risk populations, viral structure, host entry factors, the replication cycle, and licensed antibody‐based prevention strategies. ABSTRACT Respiratory syncytial virus (RSV) is a negative‐sense RNA virus belonging to the genus Orthopneumovirus within the family Pneumoviridae.
Zekai Cheng, Qianqian Wang, Jiachen Zhang, Sandra Chiu   +3 more
wiley   +1 more source

A novel ilarvirus protein CP-RT is expressed via stop codon readthrough and suppresses RDR6-dependent RNA silencing. [PDF]

PLoS Pathog
Lukhovitskaya N, Brown K, Hua L, Pate AE, Carr JP, Firth AE.   +5 more
europepmc   +2 more sources

Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations. [PDF]

J Mol Med (Berl)
Lebeda D, Fierenz A, Werfel L, Rosin-Arbesfeld R, Hofhuis J, Thoms S.   +5 more
europepmc   +1 more source

N6‐Methyladenosine (m6A) in Liver Disease: Pathogenic Mechanisms and Therapeutic Potential

iNew Medicine, EarlyView.
ABSTRACT Accumulating evidence highlights the critical role of epigenetic modifications, particularly N6‐methyladenosine (m6A), in liver disease. As the most abundant RNA modification in eukaryotic cells, m6A is dynamically regulated by multicomponent m6A methyltransferases (e.g., METTL3 and METTL14), demethylases (FTO and ALKBH5), and m6A‐binding ...
Yingfen Chen, Ru Ya, Ziling Zhang, Siyue Dong, Seol Hee Park, Wonhyo Seo, Yong He   +6 more
wiley   +1 more source

A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage. [PDF]

Mol Genet Genomic Med
Liang M, Suresh B, Bareke E, Choufani S, Jagadeesh S, Weksberg R, Majewski J, Slim R.   +7 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Cell-type-specific profiling of alternative translation identifies regulated protein isoform variation in the mouse brain [PDF]

, 2019
Dalal, Jasbir S, Dougherty, Joseph D, Guise, Amanda, Kraft, Andrew W, Lake, Allison M, Lee, Jin-Moo, Sands, Mark S, Sapkota, Darshan, Steen, Judith A, Uncu, Ceren, Wesseling, Hendrik, Yang, Chengran, Yang, Wei   +12 more
core   +1 more source