Results 61 to 70 of about 1,002,198 (296)

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

Fusion Genes and RNAs in Cancer Development

Non-Coding RNA, 2021
Fusion RNAs are a hallmark of some cancers. They result either from chromosomal rearrangements or from splicing mechanisms that are non-chromosomal rearrangements.
Kenzui Taniue, Nobuyoshi Akimitsu
doaj   +1 more source

PARP3 is a promoter of chromosomal rearrangements and limits G4 DNA

Nature Communications, 2017
Chromosomal rearrangements are essential events in the pathogenesis of both malignant and nonmalignant disorders, yet the factors affecting their formation are incompletely understood.
Tovah A. Day, Jacob V. Layer, J. Cleary, Srijoy Guha, K. Stevenson, Trevor Tivey, Sunhee Kim, Anna C. Schinzel, F. Izzo, John G Doench, D. Root, W. Hahn, B. Price, D. Weinstock   +13 more
semanticscholar   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

PLoS ONE, 2018
The detection of recurrent somatic chromosomal rearrangements is standard of care for most leukemia types. Even though karyotype analysis-a low-resolution genome-wide chromosome analysis-is still the gold standard, it often needs to be complemented with ...
Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany   +10 more
doaj   +1 more source

Ultrafine anaphase bridges, broken DNA and illegitimate recombination induced by a replication fork barrier [PDF]

, 2011
Most DNA double-strand breaks (DSBs) in S- and G2-phase cells are repaired accurately by Rad51-dependent sister chromatid recombination. However, a minority give rise to gross chromosome rearrangements (GCRs), which can result in disease/death.
Ledesma, Jennifer, Whitby, Matthew C., Castagnetti, S, Sofueva, Sevil, Alexander Lorenz, Steinacher, R, Fekret Osman, Lorenz, Alexander, Sofueva, S, Ledesma, J, Castagnetti, Stefania, Whitby, Matthew, Steinacher, Roland, Sevil Sofueva, Stefania Castagnetti, Osman, F, Lorenz, A, Matthew C. Whitby, Whitby, MC, Osman, Fekret, Roland Steinacher, Jennifer Ledesma   +21 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Chromosomal rearrangements and karyotype evolution in carnivores revealed by chromosome painting

, 2011
Chromosomal evolution in carnivores has been revisited extensively using cross-species chromosome painting. Painting probes derived from flow-sorted chromosomes of the domestic dog, which has one of the most rearranged karyotypes in mammals and the ...
Perelman, P. L., Graphodatsky, A. S., Nie, W., W Su, Yang, F., A Tanomtong, P L Perelman, Su, W., Tanomtong, A., D Wang, J Wang, Wang, J., Nie, W (reprint author), Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming 650223, Yunnan, Peoples R China, Wang, D., A S Graphodatsky, W Nie, F Yang   +16 more
core   +1 more source

Diploid-specific genome stability genes of S. cerevisiae: genomic screen reveals haploidization as an escape from persisting DNA rearrangement stress. [PDF]

, 2011
Maintaining a stable genome is one of the most important tasks of every living cell and the mechanisms ensuring it are similar in all of them. The events leading to changes in DNA sequence (mutations) in diploid cells occur one to two orders of magnitude
Skoneczna, Adrianna, Malgorzata Alabrudzinska, Marek Skoneczny, Alabrudzinska Malgorzata, Skoneczna Adrianna, Skoneczny Marek, Alabrudzinska, Malgorzata, Skoneczny, Marek, Adrianna Skoneczna   +8 more
core   +1 more source