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Epilepsy, EEG and chromosomal rearrangements [PDF]

open access: yesEpilepsia Open
Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy.
Justyna Paprocka   +2 more
exaly   +6 more sources

Chromoanagenesis: cataclysms behind complex chromosomal rearrangements

open access: yesMolecular Cytogenetics, 2019
Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during ...
Franck Pellestor
doaj   +3 more sources

Quantitative evaluation of chromosomal rearrangements in gene-edited human stem cells by CAST-Seq

open access: yesCell Stem Cell, 2021
Genome editing has shown great promise for clinical translation but also revealed the risk of genotoxicity caused by off-target effects of programmable nucleases.
Giandomenico Turchiano   +2 more
exaly   +2 more sources

Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

open access: yesGenome Biology, 2017
Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly ...
Louise Harewood   +7 more
doaj   +2 more sources

DNA Double-Strand Breaks Affect Chromosomal Rearrangements during Methotrexate-Mediated Gene Amplification in Chinese Hamster Ovary Cells

open access: yesPharmaceutics, 2021
Methotrexate (MTX)-mediated gene amplification has been widely used in Chinese hamster ovary (CHO) cells for the biomanufacturing of therapeutic proteins.
Jong Youn Baik   +2 more
exaly   +3 more sources

Chromosomal rearrangements as a source of new gene formation in Drosophila yakuba. [PDF]

open access: yesPLoS Genetics, 2019
The origins of new genes are among the most fundamental questions in evolutionary biology. Our understanding of the ways that new genetic material appears and how that genetic material shapes population variation remains incomplete.
Nicholas B Stewart, Rebekah L Rogers
doaj   +2 more sources

Precise and Predictable CRISPR Chromosomal Rearrangements Reveal Principles of Cas9-Mediated Nucleotide Insertion

open access: yesMolecular Cell, 2018
Chromosomal rearrangements including large DNA-fragment inversions, deletions, and duplications by Cas9 with paired sgRNAs are important to investigate genome structural variations and developmental gene regulation, but little is known about the ...
Jinhuan Li, Yingbin Liu, Qiang Wu
exaly   +2 more sources

The Role of RNA in DNA Breaks, Repair and Chromosomal Rearrangements

open access: yesBiomolecules, 2021
Incorrect reparation of DNA double-strand breaks (DSB) leading to chromosomal rearrangements is one of oncogenesis’s primary causes. Recently published data elucidate the key role of various types of RNA in DSB formation, recognition and repair.
Denis Eriksonovich Demin
exaly   +3 more sources

Dynamic large-scale chromosomal rearrangements fuel rapid adaptation in yeast populations. [PDF]

open access: yesPLoS Genetics, 2013
Large-scale genome rearrangements have been observed in cells adapting to various selective conditions during laboratory evolution experiments. However, it remains unclear whether these types of mutations can be stably maintained in populations and how ...
Shang-Lin Chang   +3 more
doaj   +2 more sources

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

open access: yesFrontiers in Genetics
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Yanjun Tian
exaly   +3 more sources

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