Epilepsy, EEG and chromosomal rearrangements [PDF]
Epilepsia OpenChromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy.
Antonietta Coppola +2 more
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Identification of complex and cryptic chromosomal rearrangements by optical genome mapping [PDF]
Molecular Cytogenetics, 2023 Background Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered ...
Shanshan Shi +3 more
doaj +3 more sources
Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements [PDF]
Frontiers in GeneticsIntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu +9 more
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Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model [PDF]
International Journal of Molecular Sciences, 2023 Chromothripsis defines a genetic phenomenon where up to hundreds of clustered chromosomal rearrangements can arise in a single catastrophic event. The phenomenon is associated with cancer and congenital diseases.
Heinz Jacobs, Daniel De Groot
exaly +4 more sources
Pharmaceutics, 2021 Methotrexate (MTX)-mediated gene amplification has been widely used in Chinese hamster ovary (CHO) cells for the biomanufacturing of therapeutic proteins.
Hye-Jin Han +2 more
exaly +3 more sources
Recent advances in the detection technologies for balanced chromosomal rearrangements [PDF]
Frontiers in GeneticsBalanced chromosomal rearrangements (BCRs) refer to a type of chromosomal structural variations without chromosomal gains or losses. BCR carriers may experience fertility issues, including a higher risk of infertility, recurrent miscarriages, or having ...
Meng Gao +5 more
doaj +2 more sources
The Role of RNA in DNA Breaks, Repair and Chromosomal Rearrangements
Biomolecules, 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 Demin
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Chromosomal rearrangements drive diversity in arboreal rodents of the genus Oecomys [PDF]
Scientific ReportsOecomys (Rodentia, Sigmodontinae, Oryzomyini) is a taxonomically complex and cytogenetically diverse genus with a controversial intraspecific phylogenetic relationship.
Vergiana dos Santos Paixão +7 more
doaj +2 more sources
Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements [PDF]
Communications BiologyCRISPR-based genome editing of pseudogene-associated disorders, such as p47 phox -deficient chronic granulomatous disease (p47 CGD), is challenged by chromosomal rearrangements due to presence of multiple targets.
Federica Raimondi +14 more
doaj +2 more sources
Engineering chromosome rearrangements in cancer [PDF]
Disease Models & Mechanisms, 2021 ABSTRACT The identification of large chromosomal rearrangements in cancers has multiplied exponentially over the last decade. These complex and often rare genomic events have traditionally been challenging to study, in part owing to lack of tools that efficiently engineer disease-associated inversions, deletions and translocations in ...
Salvador Alonso, Lukas E. Dow
openaire +3 more sources