Results 21 to 30 of about 182,601 (264)

Chitosan-modified graphene electrodes for DNA mutation analysis [PDF]

open access: yesJournal of Electroanalytical Chemistry, 2012
Graphene has remarkable electrochemical properties that make it an ideal material for constructing biosensors,however it has not been explored for DNA biosensing. Herein, we report on a chitosan-modified graphene platform for the electrochemical detection of changes in DNA sequences.
Subbiah, Alwarappan   +4 more
openaire   +2 more sources

Network-based approaches elucidate differences within APOBEC and clock-like signatures in breast cancer

open access: yesGenome Medicine, 2020
Background Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various ...
Yoo-Ah Kim   +9 more
doaj   +1 more source

Quantitative Mitochondrial DNA Mutation Analysis by Denaturing HPLC [PDF]

open access: yesClinical Chemistry, 2007
AbstractBackground: In recent years, denaturing HPLC (DHPLC) has been widely used to screen the whole mitochondrial genome or specific regions of the genome for DNA mutations. The quantification and mathematical modeling of DHPLC results is, however, underexplored.Methods: We generated site-directed mutants containing some common mutations in the ...
Kok Seong, Lim   +2 more
openaire   +2 more sources

Persistent α-Fetoprotein Elevation in Healthy Adults and Mutational Analysis of α-Fetoprotein Promoter, Enhancer, and Silencer Regions

open access: yesGut and Liver, 2017
Background/Aimsα-Fetoprotein (AFP) is normally 1 year, and 20 controls with low AFP levels (
Yejoo Jeon   +4 more
doaj   +1 more source

Ancient DNA Analysis of the Delta F508 Mutation

open access: yesHuman Biology, 2003
When working with highly degraded DNA, validating the results of a slightly polymorphic system always complicates the analysis because of the difficulties in recognizing contamination and artifacts. Recognition can be greatly simplified by employing a multiplex reaction that coamplifies the fragments together with several highly polymorphic markers ...
Bramanti, B   +3 more
openaire   +4 more sources

Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5

open access: yesJournal of Biochemical and Clinical Genetics, 2020
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various ...
Muhsin Elmas   +6 more
doaj   +1 more source

Label-Free Detection of DNA Mutations by Nanopore Analysis [PDF]

open access: yesACS Applied Materials & Interfaces, 2018
Cancers are caused by mutations to genes that regulate cell normal functions. The capability to rapid and reliable detection of specific target gene variations can facilitate early disease detection and diagnosis and also enables personalized treatment of cancer.
Xiaohan Chen   +6 more
openaire   +2 more sources

Hereditary sensory autonomic neuropathy Type VIII: A rare clinical presentation, genomics, diagnosis, and management in an infant

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2020
A 7-month-old female child born to nonconsanguineous parents with a history of global developmental delay, since early infancy had reported to the department with facial features of mild dysmorphism.
Shaik Hasanuddin   +2 more
doaj   +1 more source

KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer

open access: yesFrontiers in Oncology, 2021
BackgroundWe previously reported that loss of KRAS mutations (“regressive” mutational trajectories) from primary tumors to metastases associated with the oligo-metastatic status in colorectal cancer (CRC).
Alessandro Ottaiano   +17 more
doaj   +1 more source

Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis [PDF]

open access: yesGenomics & Informatics, 2013
In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes having candidate somatic mutations in ...
Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim
doaj   +1 more source

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