Results 71 to 80 of about 253,337 (321)
Linked-read sequencing for detecting short tandem repeat expansions
AbstractDetection of short tandem repeat (STR) expansions with standard short-read sequencing is challenging due to the difficulty in mapping multicopy repeat sequences. In this study, we explored how the long-range sequence information of barcode linked-read sequencing (BLRS) can be leveraged to improve repeat-read detection.
Readman Chiu +3 more
openaire +3 more sources
COMP–PMEPA1 axis promotes epithelial‐to‐mesenchymal transition in breast cancer cells
This study reveals that cartilage oligomeric matrix protein (COMP) promotes epithelial‐to‐mesenchymal transition (EMT) in breast cancer. We identify PMEPA1 (protein TMEPAI) as a novel COMP‐binding partner that mediates EMT via binding to the TSP domains of COMP, establishing the COMP–PMEPA1 axis as a key EMT driver in breast cancer.
Konstantinos S. Papadakos +6 more
wiley +1 more source
Tools for the identification of variable and potentially variable tandem repeats
Background Tandem repeat arrays showing variation between sequences within a population, between strains or across species may have functional effects. The increasing availability of genomic sequence data makes routine description of observed variation ...
Shields Denis C, O'Dushlaine Colm T
doaj +1 more source
Molecular cytogenetic mapping of Cucumis sativus and C. melo using highly repetitive DNA sequences
Chromosomes often serve as one of the most important molecular aspects of studying the evolution of species. Indeed, most of the crucial mutations that led to differentiation of species during the evolution have occurred at the chromosomal level ...
Jong, J.H.S.G.M., de +6 more
core +1 more source
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data [PDF]
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single-gene or small-panel PCR-based methods can help to identify the precise genetic cause, but they can be slow and costly and often yield no result.
Tankard, R.M. +5 more
openaire +2 more sources
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau +36 more
wiley +1 more source
Evolution and control of imprinted FWA genes in the genus Arabidopsis. [PDF]
A central question in genomic imprinting is how a specific sequence is recognized as the target for epigenetic marking. In both mammals and plants, imprinted genes are often associated with tandem repeats and transposon-related sequences, but the role of
Ryo Fujimoto +9 more
doaj +1 more source
TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data
Background Tandem repeat sequences are widespread in the human genome, and their expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches are needed to fully elucidate their roles in health and disease, but resolving tandem ...
Davide Bolognini +4 more
semanticscholar +1 more source
Sequence Turnover and Tandem Repeats in cis-Regulatory Modules in Drosophila [PDF]
The path by which regulatory sequence can change, yet preserve function, is an important open question for both evolution and bioinformatics. The recent sequencing of two additional species of Drosophila plus the wealth of data on gene regulation in the fruit fly provides new means for addressing this question.
Saurabh, Sinha, Eric D, Siggia
openaire +2 more sources
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch +13 more
wiley +1 more source

