Results 91 to 100 of about 363,020 (279)

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

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

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Genome-wide diversity and gene expression profiling of Babesia microti isolates identify polymorphic genes that mediate host-pathogen interactions [PDF]

, 2016
Babesia microti, a tick-transmitted, intraerythrocytic protozoan parasite circulating mainly among small mammals, is the primary cause of human babesiosis.
Ben Mamoun, Choukri, Brancato, Jana, Chibucos, Marcus, Colinge, Jacques, Cornillot, Emmanuel, Crabtree, Jonathan, Dwivedi, Ankit, Fraser, Claire M., Frutos, Roger, Gotia, Hanzel T., Hung, Chris, Ifeonu, Olukemi O., Krause, Peter J., Kumar, Vidya, Kumari, Priti, Lawres, Lauren, McCracken, Carrie, Molina, Douglas M., Orvis, Joshua, Ott, Sandy, Pablo, Jozelyn V., Pazzi, Joseph E., Reynes, Christelle, Sadzewicz, Lisa, Sengamalay, Naomi, Shetty, Amol C., Silva, Joana C., Su, Qi, Tallon, Luke, Tretina, Kyle, Usmani-Brown, Sahar, Virji, Azan Z.   +31 more
core   +3 more sources

Structure and variation of the mitochondrial genome of fishes

BMC Genomics, 2016
The mitochondrial (mt) genome has been used as an effective tool for phylogenetic and population genetic analyses in vertebrates. However, the structure and variability of the vertebrate mt genome are not well understood. A potential strategy for improving our understanding is to conduct a comprehensive comparative study of large mt genome data.
Satoh, Takashi P., Miya, Masaki, Mabuchi, Kohji, Nishida, Mutsumi   +3 more
openaire   +2 more sources

Establishment of a humanized patient‐derived xenograft mouse model of high‐grade serous ovarian cancer for preclinical evaluation of combination immunotherapy

Molecular Oncology, EarlyView.
We have established a humanized orthotopic patient‐derived xenograft (Hu‐oPDX) mouse model of high‐grade serous ovarian cancer (HGSOC) that recapitulates human tumor–immune interactions. Using combined anti‐PD‐L1/anti‐CD73 immunotherapy, we demonstrate the model's improved biological relevance and enhanced translational value for preclinical ...
Luka Tandaric, Line Bjørge, Martine Rott Lode, Cecilie Fredvik Torkildsen, Pia Aehnlich, Rammah Elnour, Daniela Elena Costea, Lars Andreas Akslen, Liv Cecilie Vestrheim Thomsen, Emmet McCormack, Katrin Kleinmanns   +10 more
wiley   +1 more source

Barrier loci and progress towards evolutionary generalities [PDF]

, 2017
No abstract ...
Berner, Brawand, Burri, Elmer, Elmer, Nosil, Roesti, Seehausen   +7 more
core   +1 more source

LoRTE: Detecting transposon-induced genomic variants using low coverage PacBio long read sequences

Mobile DNA, 2017
Background Population genomic analysis of transposable elements has greatly benefited from recent advances of sequencing technologies. However, the short size of the reads and the propensity of transposable elements to nest in highly repeated regions of ...
Eric Disdero, Jonathan Filée
doaj   +1 more source

A robust framework for detecting structural variations in a genome [PDF]

Bioinformatics, 2008
Abstract Motivation: Recently, structural genomic variants have come to the forefront as a significant source of variation in the human population, but the identification of these variants in a large genome remains a challenge. The complete sequencing of a human individual is prohibitive at current costs, while current polymorphism ...
Seunghak Lee, Elango Cheran, Michael Brudno   +2 more
openaire   +2 more sources

Insights into a long life without cancer: The case of the bowhead whale

Molecular Oncology, EarlyView.
Long‐lived, large‐bodied organisms have evolved powerful anticancer mechanisms that preserve cellular and tissue integrity across extended lifespans. A recent study by Firsanov et al. shows that greater genome stability is a key factor underlying the remarkable longevity and cancer resistance of one such species, the bowhead whale.
Inés Paniagua, Johanna A. Joyce
wiley   +1 more source