Results 81 to 90 of about 353,576 (232)
Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats. [PDF]
PLoS Genetics, 2014 Tandem repeats are common in eukaryotic genomes, but due to difficulties in assaying them remain poorly studied. Here, we demonstrate the utility of Nanostring technology as a targeted approach to perform accurate measurement of tandem repeats even at ...
Manisha Brahmachary +6 more
doaj +1 more source
Unique single-nucleotide variations, insertions/deletions and copy number variations in myelodysplastic syndrome during treatment resistance and progression revealed by a single-cell DNA sequencing platform [PDF]
, 2022 Paul Lee +9 more
openalex +1 more source
Hepatitis Monthly, 2016 Background There is growing evidence that deficiencies observed in the mitochondrial DNA (mtDNA) functions could play an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD).
Sharareh Kamfar +7 more
semanticscholar +1 more source
Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. [PDF]
, 2009 Alpha-synuclein (SNCA) gene has been implicated in the development of rare forms of familial Parkinson disease (PD). Recently, it was shown that an increase in SNCA copy numbers leads to elevated levels of wild-type SNCA-mRNA and protein and is ...
Bernard, David J +10 more
core +2 more sources
Asian Pacific Journal of Tropical Biomedicine, 2015 Objective: To identify prevalence of chloroquine resistance point mutation at (Pfcrt, K76T) and (Pfmdr1, N86Y) copy number variation. Methods: SYBR Green I based real time PCR was used. One hundred and thirty-three samples were analyzed for (Pfcrt, K76T)
Addimas Tajebe +3 more
doaj +1 more source
Clinical Cancer Research, 2014 Purpose: Global DNA hypomethylation plays a crucial role in genomic instability and carcinogenesis. DNA methylation of the long interspersed nucleotide element-1, L1 (LINE-1) repetitive element is a good indicator of the global DNA methylation level, and
Y. Baba +12 more
semanticscholar +1 more source
Stem-Like Adaptive Aneuploidy and Cancer Quasispecies [PDF]
, 2013 We analyze and reinterpret experimental evidence from the literature to argue for an ability of tumor cells to self-regulate their aneuploidy rate. We conjecture that this ability is mediated by a diversification factor that exploits molecular mechanisms
Napoletani, Domenico +2 more
core +4 more sources
BMC Medical Genomics, 2011 Background Molecular alterations critical to development of cancer include mutations, copy number alterations (amplifications and deletions) as well as genomic rearrangements resulting in gene fusions. Massively parallel next generation sequencing, which
Basik Mark +2 more
doaj +1 more source
SInC: An accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data [PDF]
, 2013 We report SInC (SNV, Indel and CNV) simulator and read generator, an open-source tool capable of simulating biological variants taking into account a platform-specific error model. SInC is capable of simulating and generating single- and paired-end reads
Gupta, Saurabh +3 more
core +2 more sources
Chinese 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