Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
Functional consequences of chromosomal rearrangements on gene expression: not so deleterious after all?
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Linked-Read Sequencing of Eight Falcons Reveals a Unique Genomic Architecture in Flux
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Theragnostic chromosomal rearrangements in treatment‐naive pancreatic ductal adenocarcinomas obtained via endoscopic ultrasound
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.16381
Abstract: A crucial mutational mechanism in malignancy is structural variation, in which chromosomal rearrangements alter gene functions that drive cancer progression. Herein, the presence and pattern of structural variations were investigated in twelve prospectively acquired treatment‐naïve… read more here.
Keywords: obtained via; treatment; via endoscopic; chromosomal rearrangements ... See more keywords
Chromosomal rearrangements and the first indication of an ♀X1 X1 X2 X2 /♂X1 X2 Y sex chromosome system in Rineloricaria fishes (Teleostei: Siluriformes).
Sign Up to like & getrecommendations! Published in 2022 at "Journal of fish biology"
DOI: 10.1111/jfb.15275
Abstract: Rineloricaria is the most diverse genus within the freshwater fish subfamily Loricariinae, and it is widely distributed in the Neotropical region. Despite limited cytogenetic data, the records from southern and southeastern Brazil suggest a high… read more here.
Keywords: chromosomal rearrangements; sex chromosome; chromosome; sex ... See more keywords
Chromosomal Rearrangements during Turtle Evolution Altered the Synteny of Genes Involved in Vertebrate Sex Determination
Sign Up to like & getrecommendations! Published in 2019 at "Cytogenetic and Genome Research"
DOI: 10.1159/000497302
Abstract: Sex-determining mechanisms (SDMs) set an individual's sexual fate by its genotype (genotypic sex determination, GSD) or environmental factors like temperature (temperature- dependent sex determination, TSD), as in turtles where the GSD “trigger” remains unknown. SDMs… read more here.
Keywords: evolution; sex determination; sex; chromosomal rearrangements ... See more keywords