Results 11 to 20 of about 177,132 (246)

Mutational analysis of mitochondrial DNA in Brugada syndrome [PDF]

Cardiovascular Pathology, 2016
Brugada syndrome (BrS) is a primary electrical disease associated with an increased risk of sudden cardiac death due to ventricular fibrillation. This pathology has nuclear heterogeneous genetic origins, and at present, molecular diagnostic tests on nuclear DNA cover only 30% of BrS patients. The aim of this study was to assess the possible involvement
STOCCHI, LAURA, Polidori, E, Potenza, L, Rocchi, Mbl, Calcabrini, C, Busacca, P, Capalbo, M, Potenza, D, AMATI, FRANCESCA, MANGO, RUGGIERO, ROMEO, FRANCESCO, NOVELLI, GIUSEPPE, Stocchi, V.   +12 more
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Chitosan-modified graphene electrodes for DNA mutation analysis [PDF]

Journal 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, Kyle, Cissell, Suraj, Dixit, Shyam, Mohapatra, Chen-Zhong, Li   +4 more
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Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies

Frontiers in Bioscience-Landmark, 2023
Background: There is considerable interest in the molecular evaluation of solid tumors in pediatric cases. Although clinical trials are in progress for targeted therapies against neuroblastoma (NB), novel therapeutic strategies are needed for high-risk ...
Tekincan Aktas, Deniz Kızmazoglu, Safiye Aktas, Aylin Erol, Efe Serinan, Ozde Gokbayrak, Sefayi Merve Ozdemir, Zekiye Altun, Erdener Ozer, Emre Cecen, Dilek Ince, Nur Olgun   +11 more
doaj   +1 more source

Quantitative Mitochondrial DNA Mutation Analysis by Denaturing HPLC [PDF]

Clinical 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, Robert K, Naviaux, Richard H, Haas   +2 more
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Sporadic Kindler Syndrome with a novel mutation [PDF]

Anais Brasileiros de Dermatologia, 2013
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous ...
Hiram Larangeira de Almeida Jr, Gláucia Thomas Heckler, Kenneth Fong, Joey Lai-Cheong, John McGrath   +4 more
doaj   +1 more source

Chlorella virus DNA ligase: Nick recognition and mutational analysis [PDF]

Nucleic Acids Research, 1998
Chlorella virus PBCV-1 DNA ligase seals nicked DNA substrates consisting of a 5'-phosphate-terminated strand and a 3'-hydroxyl-terminated strand annealed to a bridging DNA template strand. The enzyme discriminates at the DNA binding step between substrates containing a 5'-phosphate versus a 5'-hydroxyl at the nick.
V, Sriskanda, S, Shuman
openaire   +3 more sources

Mutational analysis of the lambda int gene: DNA sequence of dominant mutations [PDF]

Journal of Bacteriology, 1987
We have combined techniques of genetic and physical mapping with rapid DNA sequence analysis to identify the nucleotide change in lambda int mutations. These mutations define two dominant phenotypic classes: (i) recombination that is partially independent of accessory factors, and (ii) inhibition of wild-type Int by missense or nonsense proteins, i.e.,
S E, Bear, J B, Clemens, L W, Enquist, R J, Zagursky   +3 more
openaire   +2 more sources

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

Genome 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, Damian Wojtowicz, Rebecca Sarto Basso, Itay Sason, Welles Robinson, Dorit S. Hochbaum, Mark D. M. Leiserson, Roded Sharan, Fabio Vadin, Teresa M. Przytycka   +9 more
doaj   +1 more source

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

Gut and Liver, 2017
Background/Aimsα-Fetoprotein (AFP) is normally 1 year, and 20 controls with low AFP levels (
Yejoo Jeon, Yun Suk Choi, Eun Sun Jang, Jin Wook Kim, Sook-Hyang Jeong   +4 more
doaj   +1 more source

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

Journal 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, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez   +6 more
doaj   +1 more source