Results 81 to 90 of about 6,146,275 (314)
Optimizing CRISPR/Cas9 Editing of Repetitive Single Nucleotide Variants
Frontiers in Genome Editing, 2022 CRISPR/Cas9, base editors and prime editors comprise the contemporary genome editing toolbox. Many studies have optimized the use of CRISPR/Cas9, as the original CRISPR genome editing system, in substituting single nucleotides by homology directed repair (HDR), although this remains challenging.
Inga Usher +8 more
openaire +4 more sources
BMC GenomicsBackground Accurate pathogenicity prediction of rare variants in coding regions is crucial for prioritizing candidate variants in human diseases and advancing personalized precision medicine.
Jee Yeon Heo, Ju Han Kim
doaj +1 more source
Genetics of type 2 diabetes: Beyond single nucleotide variant studies
Molecular MetabolismType 2 Diabetes (T2D) is a complex disease that has increased in prevalence in the last years affecting over 530 million people around the world. T2D increases mortality and morbidity by different mechanisms.
Celeste Moya-Valera +7 more
doaj +1 more source
Oncology Report, 2018 Circulating tumour cell (CTC) behaviours are distinct from those of bulk tissues. Thus, treatments to eliminate CTCs differ from the regimens followed to reduce the primary tumour and its metastases.
Yipeng Wang +7 more
semanticscholar +1 more source
FEBS Letters, EarlyView.Animals must match their growth rate to available nutrients. We show that in Drosophila larvae, the nutrient‐sensing TOR kinase controls growth by regulating levels of TFAM, a key regulator of mitochondrial function, in the adipose tissue. When nutrients are abundant, high TOR activity suppresses TFAM, lowering mitochondrial bioenergetic activity and ...
Shrivani Sriskanthadevan‐Pirahas +4 more
wiley +1 more source
The PRALINE database: Protein and Rna humAn singLe nucleotIde variaNts in condEnsates
Bioinformatics, 2022 ABSTRACT Summary Biological condensates are membraneless organelles with different material properties. Proteins and RNAs are the main components, but most of their interactions are still unknown. Here we introduce PRALINE, a database for the interrogation of proteins and RNAs contained in stress ...
Andrea Vandelli +9 more
openaire +3 more sources
Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics
FEBS Letters, EarlyView.Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt +8 more
wiley +1 more source
ROLES OF SINGLE-NUCLEOTIDE POLYMORPHISMS IN HEALTHY SUBJECTS AND DISEASE
, 2018 The application of sequencing technologies has steadily increased over the past few years. This has allowed an exponential amplification of the information available in genome databases.
Simona Alibrandi
core +1 more source
Collective judgment predicts disease-associated single nucleotide variants [PDF]
BMC Genomics, 2013 In recent years the number of human genetic variants deposited into the publicly available databases has been increasing exponentially. The latest version of dbSNP, for example, contains ~50 million validated Single Nucleotide Variants (SNVs). SNVs make up most of human variation and are often the primary causes of disease.
CAPRIOTTI, EMIDIO +2 more
openaire +3 more sources
TNER: a novel background error suppression method for mutation detection in circulating tumor DNA
BMC Bioinformatics, 2018 Background Ultra-deep next-generation sequencing of circulating tumor DNA (ctDNA) holds great promise as a tool for the early detection of cancer and for monitoring disease progression and therapeutic responses. However, the low abundance of ctDNA in the
Shibing Deng +9 more
doaj +1 more source