Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.797
Abstract: Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype‐phenotype correlations in DS is the study of the extremely rare cases… read more here.
Keywords: dscr; critical region; region dscr; highly restricted ... See more keywords
What microRNAs could tell us about the human X chromosome
Sign Up to like & getrecommendations! Published in 2020 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-020-03526-7
Abstract: MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also in the pathogenesis of several diseases. Surprisingly, genomic distribution analysis revealed… read more here.
Keywords: micrornas could; could tell; human chromosome; chromosome ... See more keywords
Straight to the X: Modeling Human X Chromosome Inactivation in hESCs by FGF Signal Blockade.
Sign Up to like & getrecommendations! Published in 2020 at "Cell stem cell"
DOI: 10.1016/j.stem.2020.08.008
Abstract: In this issue of Cell Stem Cell, An et al. (2020) provide a model to study human X chromosome inactivation. They followed X chromosome activity and traced cellular heterogeneity in naive hESCS, showed that it is… read more here.
Keywords: blockade; chromosome inactivation; hescs; human chromosome ... See more keywords
Selective single molecule sequencing and assembly of a human Y chromosome of African origin
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-018-07885-5
Abstract: Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions, only a handful of species have their Y chromosome properly characterized. To date,… read more here.
Keywords: african origin; assembly human; chromosome african; human chromosome ... See more keywords
The structure, function and evolution of a complete human chromosome 8
Sign Up to like & getrecommendations! Published in 2021 at "Nature"
DOI: 10.1038/s41586-021-03420-7
Abstract: The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human chromosome 8. Our assembly resolves the… read more here.
Keywords: human chromosome; centromeric satellite; higher order; structure ... See more keywords
Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-34774-0
Abstract: The majority of human chromosome ends remain incompletely assembled due to their highly repetitive structure. In this study, we use BioNano data to anchor and extend chromosome ends from two European trios as well as… read more here.
Keywords: bionano; human chromosome; nanopore data; extension ... See more keywords
Automated human chromosome segmentation and feature extraction: Current trends and prospects
Sign Up to like & getrecommendations! Published in 2022 at "F1000Research"
DOI: 10.12688/f1000research.84360.1
Abstract: Automated human chromosome segmentation and feature extraction aim to improve the overall quality of genetic disorder diagnosis by addressing the limitations of tedious manual processes such as expertise dependence, time-inefficiency, observer variability and fatigue errors.… read more here.
Keywords: human chromosome; chromosome segmentation; feature extraction;
Structure of the human chromosome interaction network
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0188201
Abstract: New Hi-C technologies have revealed that chromosomes have a complex network of spatial contacts in the cell nucleus of higher organisms, whose organisation is only partially understood. Here, we investigate the structure of such a… read more here.
Keywords: interaction network; network; structure; human chromosome ... See more keywords
Activation of PPARγ in bladder cancer via introduction of the long arm of human chromosome 9
Sign Up to like & getrecommendations! Published in 2022 at "Oncology Letters"
DOI: 10.3892/ol.2022.13212
Abstract: Bladder cancer is divided into two molecular subtypes, luminal and basal, which form papillary and nodular tumors, respectively, and are identifiable by gene expression profiling. Although loss of heterozygosity (LOH) of the long arm of… read more here.
Keywords: human chromosome; bladder cancer; bladder; long arm ... See more keywords
Hypermetabolism in mice carrying a near-complete human chromosome 21
Sign Up to like & getrecommendations! Published in 2023 at "eLife"
DOI: 10.7554/elife.86023
Abstract: The consequences of aneuploidy have traditionally been studied in cell and animal models in which the extrachromosomal DNA is from the same species. Here, we explore a fundamental question concerning the impact of aneuploidy on… read more here.
Keywords: carrying near; hypermetabolism; near complete; complete human ... See more keywords