Results 71 to 80 of about 358,877 (267)

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

Clinical and molecular characterization of HER2 amplified-pancreatic cancer [PDF]

, 2013
<p>Background: Pancreatic cancer is one of the most lethal and molecularly diverse malignancies. Repurposing of therapeutics that target specific molecular mechanisms in different disease types offers potential for rapid improvements in outcome ...
Biankin, A.V., Chang, D.K., Chantrill, L., Chin, V., Chou, A., Cowley, M.J., Gill, A.J., Goldstein, D., Grimmond, S.M., Humphris, J., Johns, A.L., Kassahn, K.S., Mead, R., Miller, D.K., Morey, A.L., Musgrove, E.A., Nagrial, A.M., Nones, K., Pajic, M., Patch, A.M., Pearson, J.V., Pinese, M., Rooman, I., Samra, J.S., Toon, C.W., Waddell, N., Wasan, H., Wu, J.   +27 more
core   +3 more sources

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Crop pangenomes

Вавиловский журнал генетики и селекции, 2021
Progress in genome sequencing, assembly and analysis allows for a deeper study of agricultural plants’ chromosome structures, gene identif ication and annotation.
A. Yu. Pronozin, M. K. Bragina, E. A. Salina   +2 more
doaj   +1 more source

Integrated genomic and proteomic profiling reveals insights into chemoradiation resistance in cervical cancer

Molecular Oncology, EarlyView.
A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath, Irene A. George, Srikanth S. Manda, Prasanth Ariyannur, Ekta R. Dhawale, Raja Sekhar Kommu, Rajan Datar, Darshana Patil, Vinita Trivedi, Manisha Singh, Kumar Prabhash, Sewanti Limaye, Richa Chauhan, Prashant Kumar   +13 more
wiley   +1 more source

Machine-learning predicts genomic determinants of meiosis-driven structural variation in a eukaryotic pathogen

Nature Communications, 2021
Structural variation in genomes of the same species is frequent but what drives the rearrangements remains unclear. Machine-learning of rearrangement patterns among telomere-to-telomere assemblies can accurately identify regions of intrinsic DNA ...
Thomas Badet, Simone Fouché, Fanny E. Hartmann, Marcello Zala, Daniel Croll   +4 more
doaj   +1 more source

A synthetic benzoxazine dimer derivative targets c‐Myc to inhibit colorectal cancer progression

Molecular Oncology, EarlyView.
Benzoxazine dimer derivatives bind to the bHLH‐LZ region of c‐Myc, disrupting c‐Myc/MAX complexes, which are evaluated from SAR analysis. This increases ubiquitination and reduces cellular c‐Myc. Impairing DNA repair mechanisms is shown through proteomic analysis.
Nicharat Sriratanasak, Bodee Nutho, Worawat Wattanathana, Narumon Phaonakrop, Bunnatut Panasawatwong, Katharina Erlenbach‐Wuensch, Sittiruk Roytrakul, Regine Schneider‐Stock, Pithi Chanvorachote   +8 more
wiley   +1 more source

Landscape of standing variation for tandem duplications in Drosophila yakuba and Drosophila simulans [PDF]

, 2014
We have used whole genome paired-end Illumina sequence data to identify tandem duplications in 20 isofemale lines of D. yakuba, and 20 isofemale lines of D. simulans and performed genome wide validation with PacBio long molecule sequencing. We identify 1,
Andolfatto, Peter, Cridland, Julie M., Hu, Tina T., Rogers, Rebekah L., Shao, Ling, Thornton, Kevin R.   +5 more
core   +3 more sources

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

Molecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard, Sarmad Mehmood, Eva Boysen Fynboe Ebert, Peter Meldgaard, Anindya Dutta, Boe S. Sorensen   +5 more
wiley   +1 more source

Genomic structural variations lead to dysregulation of important coding and non‐coding RNA species in dilated cardiomyopathy

EMBO Molecular Medicine, 2017
The transcriptome needs to be tightly regulated by mechanisms that include transcription factors, enhancers, and repressors as well as non‐coding RNAs.
Jan Haas, Stefan Mester, Alan Lai, Karen S Frese, Farbod Sedaghat‐Hamedani, Elham Kayvanpour, Tobias Rausch, Rouven Nietsch, Jes‐Niels Boeckel, Avisha Carstensen, Mirko Völkers, Carsten Dietrich, Dietmar Pils, Ali Amr, Daniel B Holzer, Diana Martins Bordalo, Daniel Oehler, Tanja Weis, Derliz Mereles, Sebastian Buss, Eva Riechert, Emil Wirsz, Maximilian Wuerstle, Jan O Korbel, Andreas Keller, Hugo A Katus, Andreas E Posch, Benjamin Meder   +27 more
doaj   +1 more source