Articles with "loss heterozygosity" as a keyword



Gain and Loss of Heterozygosity in the Genome of the Asexual Nematode Halicephalobus mephisto

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Published in 2025 at "Journal of Molecular Evolution"

DOI: 10.1007/s00239-025-10259-3

Abstract: Asexual reproduction often leads to loss of genetic diversity, but several mechanisms have evolved to maintain heterozygosity. The subterrestrial nematode, Halicephalobus mephisto, reproduces parthenogenetically, and here, we investigate how its genetic diversity -\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym}… read more here.

Keywords: loss; history; loss heterozygosity; heterozygosity ... See more keywords

Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors

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Published in 2024 at "Acta Neuropathologica"

DOI: 10.1007/s00401-024-02736-8

Abstract: Pituitary neuroendocrine tumors (PitNETs) exhibiting aggressive, treatment-refractory behavior are the rare subset that progress after surgery, conventional medical therapies, and an initial course of radiation and are characterized by unrelenting growth and/or metastatic dissemination. Two… read more here.

Keywords: aggressive treatment; refractory behavior; treatment; treatment refractory ... See more keywords

HuH-7 reference genome profile: complex karyotype composed of massive loss of heterozygosity

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Published in 2018 at "Human Cell"

DOI: 10.1007/s13577-018-0212-3

Abstract: Human cell lines represent a valuable resource as in vitro experimental models. A hepatoma cell line, HuH-7 (JCRB0403), has been used extensively in various research fields and a number of studies using this line have… read more here.

Keywords: massive loss; cell line; line; genome profile ... See more keywords

Genomic landscape of copy number variation and copy neutral loss of heterozygosity events in equine sarcoids reveals increased instability of the sarcoid genome.

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Published in 2017 at "Biochimie"

DOI: 10.1016/j.biochi.2017.07.006

Abstract: Although they are the most common neoplasms in equids, sarcoids are not fully characterized at the molecular level. Therefore, the objective of this study was to characterize the landscape of structural rearrangements, such as copy… read more here.

Keywords: copy number; number variation; neutral loss; loss heterozygosity ... See more keywords

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations

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Published in 2024 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-024-01626-7

Abstract: Loss-of-function variants in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations. However, genomic DNA sequencing combined with large rearrangement screening fails to detect a… read more here.

Keywords: cavernous malformations; multiple cerebral; loss; variant ... See more keywords

Resolving spatial subclonal genomic heterogeneity of loss of heterozygosity and extrachromosomal DNA in gliomas

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Published in 2025 at "Nature Communications"

DOI: 10.1038/s41467-025-59805-z

Abstract: Mapping the spatial organization of DNA-level somatic copy number changes in tumors can provide insight to understanding higher-level molecular and cellular processes that drive pathogenesis. We describe an integrated framework of spatial transcriptomics, tumor/normal DNA… read more here.

Keywords: loss heterozygosity; tumor; extrachromosomal dna; heterogeneity ... See more keywords

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing

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Published in 2024 at "Scientific Reports"

DOI: 10.1038/s41598-024-52812-y

Abstract: The study explored the clinical significance of fetal loss of heterozygosity (LOH) identified by single-nucleotide polymorphism array (SNP array). We retrospectively reviewed data from pregnant women who underwent invasive diagnostic procedures at prenatal diagnosis centers… read more here.

Keywords: fetal loss; polymorphism array; loss heterozygosity; single nucleotide ... See more keywords

The dynamics of loss of heterozygosity events in genomes

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Published in 2025 at "EMBO Reports"

DOI: 10.1038/s44319-024-00353-w

Abstract: Genomic instability is a hallmark of tumorigenesis, yet it also plays an essential role in evolution. Large-scale population genomics studies have highlighted the importance of loss of heterozygosity (LOH) events, which have long been overlooked… read more here.

Keywords: loh events; genomic instability; loss heterozygosity;
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Overdominant Mutations Restrict Adaptive Loss of Heterozygosity at Linked Loci

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Published in 2021 at "Genome Biology and Evolution"

DOI: 10.1093/gbe/evab181

Abstract: Abstract Loss of heterozygosity is a common mode of adaptation in asexual diploid populations. Because mitotic recombination frequently extends the full length of a chromosome arm, the selective benefit of loss of heterozygosity may be… read more here.

Keywords: overdominant mutations; loss heterozygosity; heterozygous mutations; heterozygosity whi2 ... See more keywords

Genome-scale patterns in the loss of heterozygosity incidence in Saccharomyces cerevisiae

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Published in 2022 at "Genetics"

DOI: 10.1093/genetics/iyac032

Abstract: Abstract Former studies have established that loss of heterozygosity can be a key driver of sequence evolution in unicellular eukaryotes and tissues of metazoans. However, little is known about whether the distribution of loss of… read more here.

Keywords: loss heterozygosity; heterozygosity events; incidence; loss ... See more keywords

Loss of Heterozygosity Spectrum Depends on Ploidy Level in Natural Yeast Populations

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Published in 2022 at "Molecular Biology and Evolution"

DOI: 10.1093/molbev/msac214

Abstract: Abstract The appearance of genomic variations such as loss of heterozygosity (LOH) has a significant impact on phenotypic diversity observed in a population. Recent large-scale yeast population genomic surveys have shown a high frequency of… read more here.

Keywords: ploidy level; spectrum; loss heterozygosity; loh events ... See more keywords