Results 41 to 50 of about 31,319 (300)
A novel approach for mining polymorphic microsatellite markers in silico
Hoffman J, Nichols HJ. A novel approach for mining polymorphic microsatellite markers in silico. PLoS ONE. 2011;6(8): e23283.Abstract: An important emerging application of high-throughput 454 sequencing is the isolation of molecular markers such as ...
Joseph I. Hoffman +8 more
core +1 more source
Signatures of Population Expansion in Microsatellite Repeat Data
Abstract To examine the signature of population expansion on genetic variability at microsatellite loci, we consider a population that evolves according to the time-continuous Moran model, with growing population size and mutations that follow a general asymmetric stepwise mutation model.
M, Kimmel +5 more
openaire +2 more sources
Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation [PDF]
Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.
Fen-Biao, Gao, Joel D, Richter
openaire +2 more sources
peer-reviewedBackground: About forty human diseases are caused by repeat instability mutations. A distinct subset of these diseases is the result of extreme expansions of polymorphic trinucleotide repeats; typically CAG repeats encoding poly-glutamine ...
Herman Raadsma +30 more
core +1 more source
Discrepancy variation of dinucleotide microsatellite repeats in eukaryotic genomes [PDF]
To address whether there are differences of variation among repeat motif types and among taxonomic groups, we present here an analysis of variation and correlation of dinucleotide microsatellite repeats in eukaryotic genomes. Ten taxonomic groups were compared, those being primates, mammalia (excluding primates and rodentia), rodentia, birds, fish ...
GAO, HUAN +4 more
openaire +4 more sources
Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann +61 more
wiley +1 more source
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena +15 more
wiley +1 more source
Premise of the study: Microsatellite markers were characterized for an Antarctic endemic, Buellia frigida, to investigate population structure and origin of Antarctic lichens. Methods and Results: Five primer sets were characterized.
Green, T.G. Allan +3 more
core +1 more source
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober +16 more
wiley +1 more source
A novel signature integrating genome‐wide analysis with clinical factors predicts recurrence in stage II colorectal cancer and enables a new risk stratification to guide postoperative adjuvant chemotherapy. Clinical risk stratification for postoperative recurrence in patients with pathological stage II (pStage II) colorectal cancer (CRC) is essential ...
Mayuko Otomo +7 more
wiley +1 more source

