Results 41 to 50 of about 31,319 (300)

A novel approach for mining polymorphic microsatellite markers in silico

open access: yes, 2011
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

open access: yesGenetics, 1998
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]

open access: yesNeuron, 2017
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

Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes

open access: yes, 2010
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]

open access: yesBiological Research, 2009
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

open access: yesMolecular Oncology, EarlyView.
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

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

open access: yesMolecular Oncology, EarlyView.
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

Isolation and characterization of microsatellites in the lichen Buellia frigida (Physciaceae), an Antarctic endemic

open access: yes, 2012
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

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

open access: yesMolecular Oncology, EarlyView.
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

Identifying gene expression signatures for risk stratification of postoperative adjuvant chemotherapy in colorectal cancer

open access: yesFEBS Open Bio, EarlyView.
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

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