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   Articles with "chromosomal rearrangements" as a keyword



Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

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recommendations! Published in 2017 at "JAMA Neurology"

DOI: 10.1001/jamaneurol.2017.0666

Abstract: Importance Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective To elucidate the causal genetic variant in a large US family… read more here.

Keywords: dopa responsive; chromosomal rearrangements; family; responsive dystonia ... See more keywords

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

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recommendations! Published in 2017 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2017.06.011

Abstract: Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants,… read more here.

Keywords: position effects; position; apparently balanced; chromosomal rearrangements ... See more keywords

Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases.

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recommendations! Published in 2018 at "Fertility and sterility"

DOI: 10.1016/j.fertnstert.2017.11.021

Abstract: OBJECTIVE To evaluate the clinical outcomes in carriers of complex chromosomal rearrangements (CCRs). DESIGN Case series. SETTING An institute for reproductive and stem cell engineering. PATIENT(S) Seven couples with CCRs. INTERVENTION(S) Assisted reproduction with preimplantation… read more here.

Keywords: carriers complex; clinical outcomes; pgd; chromosomal rearrangements ... See more keywords
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Functional consequences of chromosomal rearrangements on gene expression: not so deleterious after all?

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recommendations! Published in 2019 at "Journal of molecular biology"

DOI: 10.1016/j.jmb.2019.09.010

Abstract: Chromosomes are folded and organized into topologically associated domains (TADs) which provide a framework for the interaction of enhancers with the promoter of their target gene(s). Structural rearrangements observed during evolution or in disease contexts… read more here.

Keywords: functional consequences; gene expression; chromosomal rearrangements; consequences chromosomal ... See more keywords

Cancer genetics: A 3D view of genome rearrangements

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recommendations! Published in 2017 at "Nature Reviews Genetics"

DOI: 10.1038/nrg.2017.56

Abstract: Somatic structural genome alterations such as changes in copy number or chromosomal rearrangements can promote genome instability and cancer development, and identification of these mutations is crucial to diagnose cancer early and provide targeted therapies.… read more here.

Keywords: view genome; genetics view; genetics; chromosomal rearrangements ... See more keywords

Chromosomal rearrangements drive diversity in arboreal rodents of the genus Oecomys

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recommendations! Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-89517-9

Abstract: Oecomys (Rodentia, Sigmodontinae, Oryzomyini) is a taxonomically complex and cytogenetically diverse genus with a controversial intraspecific phylogenetic relationship. Karyotypic analyses, using whole chromosome probes from Hylaeamys megacephalus (HME, Sigmodontinae, Oryzomyini) in some taxonomic lineages of… read more here.

Keywords: hme; chromosomal rearrangements; hme oru; oru hme ... See more keywords

Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements

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recommendations! Published in 2024 at "Communications Biology"

DOI: 10.1038/s42003-024-06959-z

Abstract: CRISPR-based genome editing of pseudogene-associated disorders, such as p47phox-deficient chronic granulomatous disease (p47 CGD), is challenged by chromosomal rearrangements due to presence of multiple targets. We report that interactions between highly homologous sequences that are… read more here.

Keywords: recombination; chromosomal rearrangements; recombination chromosomal; associated homologous ... See more keywords

Linked-Read Sequencing of Eight Falcons Reveals a Unique Genomic Architecture in Flux

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recommendations! Published in 2022 at "Genome Biology and Evolution"

DOI: 10.1093/gbe/evac090

Abstract: Falcons are diverse birds of cultural and economic importance. They have undergone major lineage-specific chromosomal rearrangements, resulting in greatly-reduced chromosome counts relative to other birds. Here, we use 10X Genomics linked reads to provide new… read more here.

Keywords: falcon genomes; linked read; chromosomal rearrangements; genomic architecture ... See more keywords

Limited Introgression between Rock-Wallabies with Extensive Chromosomal Rearrangements

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recommendations! Published in 2021 at "Molecular Biology and Evolution"

DOI: 10.1093/molbev/msab333

Abstract: Abstract Chromosome rearrangements can result in the rapid evolution of hybrid incompatibilities. Robertsonian fusions, particularly those with monobrachial homology, can drive reproductive isolation amongst recently diverged taxa. The recent radiation of rock-wallabies (genus Petrogale) is… read more here.

Keywords: robertsonian fusions; chromosomal rearrangements; rock wallabies; introgression ... See more keywords

Widely spaced and divergent inverted repeats become a potent source of chromosomal rearrangements in long single-stranded DNA regions

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recommendations! Published in 2023 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkad153

Abstract: Abstract DNA inverted repeats (IRs) are widespread across many eukaryotic genomes. Their ability to form stable hairpin/cruciform secondary structures is causative in triggering chromosome instability leading to several human diseases. Distance and sequence divergence between… read more here.

Keywords: single stranded; dna; chromosomal rearrangements; inverted repeats ... See more keywords

Revisiting the role of the spindle assembly checkpoint in the formation of gross chromosomal rearrangements in Saccharomyces cerevisiae

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recommendations! Published in 2024 at "Genetics"

DOI: 10.1101/2024.04.11.589040

Abstract: Multiple pathways are known to suppress the formation of gross chromosomal rearrangements (GCRs), which can cause human diseases including cancer. In contrast, much less is known about pathways that promote their formation. The spindle assembly… read more here.

Keywords: formation gross; chromosomal rearrangements; assembly checkpoint; spindle assembly ... See more keywords