Results 91 to 100 of about 125,484 (288)

Simple binary segmentation frameworks for identifying variation in DNA copy number [PDF]

open access: yesBMC Bioinformatics, 2012
Variation in DNA copy number, due to gains and losses of chromosome segments, is common. A first step for analyzing DNA copy number data is to identify amplified or deleted regions in individuals. To locate such regions, we propose a circular binary segmentation procedure, which is based on a sequence of nested hypothesis tests, each using the Bayesian
openaire   +3 more sources

DNA copy number variations at chromosome 7p14.1 and chromosome 14q11.2 are associated with Dupuytren's disease: Potential role for MMP and Wnt signaling pathway [PDF]

open access: yes, 2012
Background: Dupuytren's disease is a common fibroproliferative disorder with an unknown etiology. Emerging evidence suggests a strong genetic component involved in the manifestation of the disease. This study aims to investigate the potential involvement
Shih, B.   +7 more
core   +1 more source

Organellar genome dynamics of exogenous stages of Eimeria tenella

open access: yesParasites & Vectors
Background Coccidia are a group of intracellular protozoal parasites within the phylum Apicomplexa. Eimeria tenella, one of the species that cause intestinal coccidiosis in poultry, can cause significant mortality and morbidity.
Perryn S. Kruth   +2 more
doaj   +1 more source

AscF in the mycobacterial CIII–CIV supercomplex lacks metal and nucleotide binding but links malate oxidation to respiration

open access: yesFEBS Letters, EarlyView.
The mycobacterial CIII‐CIV respiratory supercomplex is an obligate assembly, encompassing several subunits of unknown functions. We have characterized the intracellular subunit AscF, and show that it is unlikely to be a sensor for metals or nucleotides, but is required for growth on nonfermentable energy sources, and likely works as an adapter for ...
Eni Rile   +8 more
wiley   +1 more source

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

open access: yesMolecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce   +11 more
wiley   +1 more source

Methods and strategies for analyzing copy number variation using DNA microarrays [PDF]

open access: yesNature Genetics, 2007
The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are ...
openaire   +2 more sources

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

open access: yesMolecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge   +17 more
wiley   +1 more source

Genet-CNV: Boolean Implication Networks for Modeling Genome-Wide Co-occurrence of DNA Copy Number Variations [PDF]

open access: yes, 2019
Lung cancer is the leading cause of cancer-related death in the world. Lung cancer can be categorized as non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). NSCLC makes up about 80% to 85% of lung cancer cases diagnosed, whereas SCLC is
Singh, Salvi
core   +2 more sources

Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To investigate the clinical phenotype and genotype of facioscapulohumeral muscular dystrophy type 1 (FSHD1) and the correlation between the two.
Huan LI   +7 more
doaj  

Genomic Diversification, Structural Plasticity, and Hybridization in Leishmania (Viannia) braziliensis

open access: yesFrontiers in Cellular and Infection Microbiology, 2020
Leishmania (Viannia) braziliensis is an important Leishmania species circulating in several Central and South American countries. Among Leishmania species circulating in Brazil, Argentina and Colombia, L. braziliensis has the highest genomic variability.
Luz H. Patino   +4 more
doaj   +1 more source

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