Microtechnologies for single-cell and spatial multi-omics
Single-cell omics assays allow the identification of the type, subtype and functional state of a
single cell. To put such single-cell data in the context of tissues, spatially resolved omics can …
single cell. To put such single-cell data in the context of tissues, spatially resolved omics can …
Aldehyde-Associated Mutagenesis─ Current State of Knowledge
S Vijayraghavan, N Saini - Chemical Research in Toxicology, 2023 - ACS Publications
Aldehydes are widespread in the environment, with multiple sources such as food and
beverages, industrial effluents, cigarette smoke, and additives. The toxic effects of exposure …
beverages, industrial effluents, cigarette smoke, and additives. The toxic effects of exposure …
[HTML][HTML] Fanconi anemia DNA crosslink repair factors protect against LINE-1 retrotransposition during mouse development
N Bona, GP Crossan - Nature Structural & Molecular Biology, 2023 - nature.com
Long interspersed nuclear element 1 (LINE-1) is the only autonomous retrotransposon in
humans and new integrations are a major source of genetic variation between individuals …
humans and new integrations are a major source of genetic variation between individuals …
[HTML][HTML] Chromosomal instability in genome evolution: from cancer to macroevolution
V Comaills, M Castellano-Pozo - Biology, 2023 - mdpi.com
Simple Summary The experimental/pathological observation of genome chaos (including
massive and large-scale translocations, chromothripsis, and polyploidy cancer cells) …
massive and large-scale translocations, chromothripsis, and polyploidy cancer cells) …
Rare disease research resources at the rat genome database
ML Kaldunski, JR Smith, KC Brodie, JL De Pons… - Genetics, 2023 - academic.oup.com
Rare diseases individually affect relatively few people, but as a group they impact
considerable numbers of people. The Rat Genome Database (https://rgd. mcw. edu) is a …
considerable numbers of people. The Rat Genome Database (https://rgd. mcw. edu) is a …
Inhibition of PLK4 remodels histone methylation and activates the immune response via the cGAS-STING pathway in TP53-mutated AML
Acute myeloid leukemia (AML) with TP53 mutation is one of the most lethal cancers and
portends an extremely poor prognosis. Based on in silico analyses of druggable genes and …
portends an extremely poor prognosis. Based on in silico analyses of druggable genes and …
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
R Ramanagoudr-Bhojappa, R Tryon, FP Lach… - Blood …, 2024 - ashpublications.org
Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic
variants in any 1 of 22 known genes (FANCA-FANCW). Variants in FANCA account for …
variants in any 1 of 22 known genes (FANCA-FANCW). Variants in FANCA account for …
[HTML][HTML] Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism
AM Al-Zain, MR Nester, I Ahmed… - Nature …, 2023 - nature.com
Inverted duplications, also known as foldback inversions, are commonly observed in
cancers and are the major class of chromosome rearrangement recovered from yeast cells …
cancers and are the major class of chromosome rearrangement recovered from yeast cells …
[HTML][HTML] DNA damage response and mismatch repair gene defects in advanced and metastatic prostate cancer
D Akhoundova, P Francica, S Rottenberg… - Advances in anatomic …, 2024 - journals.lww.com
Alterations in DNA damage response (DDR) and related genes are present in up to 25% of
advanced prostate cancers (PCa). Most frequently altered genes are involved in the …
advanced prostate cancers (PCa). Most frequently altered genes are involved in the …
[PDF][PDF] Mutational topography reflects clinical neuroblastoma heterogeneity
E Rodriguez-Fos, M Planas-Fèlix, M Burkert… - Cell Genomics, 2023 - cell.com
Neuroblastoma is a pediatric solid tumor characterized by strong clinical heterogeneity.
Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational …
Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational …