Base editing: advances and therapeutic opportunities
EM Porto, AC Komor, IM Slaymaker… - Nature Reviews Drug …, 2020 - nature.com
Base editing—the introduction of single-nucleotide variants (SNVs) into DNA or RNA in
living cells—is one of the most recent advances in the field of genome editing. As around …
living cells—is one of the most recent advances in the field of genome editing. As around …
Delivery of CRISPR-Cas tools for in vivo genome editing therapy: Trends and challenges
EA Taha, J Lee, A Hotta - Journal of Controlled Release, 2022 - Elsevier
The discovery of clustered regularly interspaced short palindromic repeats (CRISPR)
genome editing technology opened the door to provide a versatile approach for treating …
genome editing technology opened the door to provide a versatile approach for treating …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
Drug design and repurposing with DockThor-VS web server focusing on SARS-CoV-2 therapeutic targets and their non-synonym variants
The COVID-19 caused by the SARS-CoV-2 virus was declared a pandemic disease in
March 2020 by the World Health Organization (WHO). Structure-Based Drug Design …
March 2020 by the World Health Organization (WHO). Structure-Based Drug Design …
Unravelling cellular relationships during development and regeneration using genetic lineage tracing
CS Baron, A van Oudenaarden - Nature reviews molecular cell biology, 2019 - nature.com
Tracking the progeny of single cells is necessary for building lineage trees that recapitulate
processes such as embryonic development and stem cell differentiation. In classical lineage …
processes such as embryonic development and stem cell differentiation. In classical lineage …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes …
understanding of the functional impact of genetic alterations on biological processes …
Pathway-driven discovery of epilepsy genes
J Noebels - Nature neuroscience, 2015 - nature.com
Epilepsy genes deliver critical insights into the molecular control of brain synchronization
and are revolutionizing our understanding and treatment of the disease. The epilepsy …
and are revolutionizing our understanding and treatment of the disease. The epilepsy …
Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer
DM Neskey, AA Osman, TJ Ow, P Katsonis… - Cancer research, 2015 - AACR
TP53 is the most frequently altered gene in head and neck squamous cell carcinoma, with
mutations occurring in over two-thirds of cases, but the prognostic significance of these …
mutations occurring in over two-thirds of cases, but the prognostic significance of these …
Identification of pathogenic missense mutations using protein stability predictors
L Gerasimavicius, X Liu, JA Marsh - Scientific Reports, 2020 - nature.com
Attempts at using protein structures to identify disease-causing mutations have been
dominated by the idea that most pathogenic mutations are disruptive at a structural level …
dominated by the idea that most pathogenic mutations are disruptive at a structural level …