Results 1 to 10 of about 131,037 (206)

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, Peizhi Huang, Ruiling Yan, Ruiman Li   +3 more
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Epilepsy, EEG and chromosomal rearrangements [PDF]

Epilepsia Open
Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy.
Justyna Paprocka, Antonietta Coppola, Claudia Cuccurullo, Elżbieta Stawicka, Pasquale Striano   +4 more
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Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements [PDF]

Frontiers in Genetics
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang   +9 more
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Sequence features contributing to chromosomal rearrangements in Neisseria gonorrhoeae. [PDF]

PLoS ONE, 2012
Through whole genome sequence alignments, breakpoints in chromosomal synteny can be identified and the sequence features associated with these determined.
Russell Spencer-Smith, Eldho M Varkey, Mark D Fielder, Lori A S Snyder   +3 more
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Chromosomal rearrangements drive diversity in arboreal rodents of the genus Oecomys [PDF]

Scientific Reports
Oecomys (Rodentia, Sigmodontinae, Oryzomyini) is a taxonomically complex and cytogenetically diverse genus with a controversial intraspecific phylogenetic relationship.
Vergiana dos Santos Paixão, Stella Miranda Malcher, Willam Oliveira da Silva, Malcolm Andrew Ferguson-Smith, Patricia Caroline Mary O’Brien, Rogério Vieira Rossi, Julio Cesar Pieczarka, Cleusa Yoshiko Nagamachi   +7 more
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Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements [PDF]

Communications Biology
CRISPR-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, Kah Mun Siow, Dominik Wrona, Carla Fuster-García, Oleksandr Pastukhov, Michael Schmitz, Katja Bargsten, Lucas Kissling, Daan C. Swarts, Geoffroy Andrieux, Toni Cathomen, Ute Modlich, Martin Jinek, Ulrich Siler, Janine Reichenbach   +14 more
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DNA Double-Strand Breaks Affect Chromosomal Rearrangements during Methotrexate-Mediated Gene Amplification in Chinese Hamster Ovary Cells

Pharmaceutics, 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, Hye-Jin Han, Kelvin H. Lee   +2 more
doaj   +1 more source

Identification of a familial complex chromosomal rearrangement by optical genome mapping

Molecular Cytogenetics, 2022
Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion.
Yang Yang, Wang Hao
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Convergent adaptation of Saccharomyces uvarum to sulfite, an antimicrobial preservative widely used in human-driven fermentations.

PLoS Genetics, 2021
Different species can find convergent solutions to adapt their genome to the same evolutionary constraints, although functional convergence promoted by chromosomal rearrangements in different species has not previously been found.
Laura G Macías, Melisa González Flores, Ana Cristina Adam, María E Rodríguez, Amparo Querol, Eladio Barrio, Christian Ariel Lopes, Roberto Pérez-Torrado   +7 more
doaj   +1 more source

Mechanisms of structural chromosomal rearrangement formation

Molecular Cytogenetics, 2022
Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability.
Bruna Burssed, Malú Zamariolli, Fernanda Teixeira Bellucco, Maria Isabel Melaragno   +3 more
doaj   +1 more source