Results 21 to 30 of about 188,397 (314)

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

Electronic transport in DNA [PDF]

, 2005
We study the electronic properties of DNA by way of a tight-binding model applied to four particular DNA sequences. The charge transfer properties are presented in terms of localization lengths (crudely speaking, the length over which electrons travel).
Klotsa, Daphne, Turner, Matthew S., Römer, Rudolf A., Roemer, Rudolf A.   +3 more
core   +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

Ancient DNA Analysis of the Delta F508 Mutation

Human 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, Hummel, S, Chiarelli, B, Herrmann, B   +3 more
openaire   +4 more sources

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

ACS 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, Golbarg M. Roozbahani, Zijing Ye, Youwen Zhang, Rui Ma, Jialing Xiang, Xiyun Guan   +6 more
openaire   +2 more sources

Protein structural consequences of DNA mutational signatures: A meta-analysis of somatic variants and deep mutational scanning data

, 2021
Data generated for the manuscript "Protein structural consequences of DNA mutational signatures: A meta-analysis of somatic variants and deep mutational scanning data". Please consult the README file for detailed description of data files included in
Ng, Joseph, Fraternali, Franca
core   +1 more source

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

Journal 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, Gayatri Moghe, J Sharada Reddy   +2 more
doaj   +1 more source

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

Frontiers 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, Guglielmo Nasti, Mariachiara Santorsola, Vincenzo Altieri, Giuseppina Di Fruscio, Luisa Circelli, Amalia Luce, Amalia Luce, Alessia Maria Cossu, Alessia Maria Cossu, Giosuè Scognamiglio, Francesco Perri, Marco Correra, Andrea Belli, Paolo Delrio, Gerardo Botti, Michele Caraglia, Michele Caraglia   +17 more
doaj   +1 more source

The impact of the C-terminal domain on the interaction of human DNA topoisomerase II α and β with DNA [PDF]

, 2011
<b>Background</b> Type II DNA topoisomerases are essential, ubiquitous enzymes that act to relieve topological problems arising in DNA from normal cellular activity.
Caroline A. Austin, Kathryn L Gilroy, Caroline A Austin, Austin Caroline A., Austin, C.A., Gilroy Kathryn L., Gilroy, K.L., Kathryn L. Gilroy   +7 more
core   +1 more source