Results 61 to 70 of about 49,487 (207)
Intramolecular Phenotypic Capacitance in a Modular RNA Molecule [PDF]
, 2015 Phenotypic capacitance refers to the ability of a genome to accumulate mutations that are conditionally hidden and only reveal phenotype-altering effects after certain environmental or genetic changes.
Bendixsen, Devin P. +2 more
core +2 more sources
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Proteome‐Wide Analysis of Human Deletions
Proteins: Structure, Function, and Bioinformatics, EarlyView.ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang +2 more
wiley +1 more source
Functionality of In vitro Reconstituted Group II Intron RmInt1-Derived Ribonucleoprotein Particles [PDF]
, 2016 The functional unit of mobile group II introns is a ribonucleoprotein particle (RNP) consisting of the intron-encoded protein (IEP) and the excised intron RNA. The IEP has reverse transcriptase activity but also promotes RNA splicing, and the RNA-protein
García-Rodríguez, Fernando +2 more
core +2 more sources
Integration of epigenetics into ecotoxicology: insights and fundamental research needs
Biological Reviews, EarlyView.ABSTRACT Epigenetics refers to heritable changes in genome function that occur without direct alterations to the DNA sequence. A multitude of environmental contaminants can influence the epigenetic marks of a genome. Changes of epigenetic marks including DNA methylation, histone modifications, and non‐coding RNAs can induce alterations at the gene ...
Albano Pinto +3 more
wiley +1 more source
General and Specific Promotion of Flagellar Assembly by a Flagellar Nucleoside Diphosphate Kinase [PDF]
, 2017 Nucleoside diphosphate kinases (NDKs) play a central role in diverse cellular processes using the canonical NDK activity or alternative mechanisms that remain poorly defined.
Ciruelas, Kristine S. +9 more
core +1 more source
Cancer Science, EarlyView.R‐loops are three‐stranded nucleic acid structures whose dysregulation leads to genomic instability and cancer progression. This review summarizes the protein and lncRNA machineries that regulate R‐loop dynamics and discusses the therapeutic potential of targeting these pathways in cancer.
Miho M. Suzuki +3 more
wiley +1 more source
EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types [PDF]
, 2017 The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression.
Crea, Francesco +4 more
core +2 more sources
The FEBS Journal, EarlyView.Plant‐type pentatricopeptide repeat proteins capable of C‐to‐U RNA editing perform faithfully when expressed in a new heterologous system, the yeast Saccharomyces cerevisiae. They were tested with constitutive and inducible expression and with a set of different solubility tags. PPR56, PPR65, and PPR78 from P.
Shyam Ramanathan +4 more
wiley +1 more source
Giant reverse transcriptase-encoding transposable elements at telomeres [PDF]
, 2017 Author Posting. © The Author(s), 2017. This is the author's version of the work. It is posted here by permission of Oxford University Press for personal use, not for redistribution.
Arkhipova, Irina R. +2 more
core +1 more source