Microtechnologies for single-cell and spatial multi-omics

Y Deng, Z Bai, R Fan - Nature Reviews Bioengineering, 2023 - nature.com
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 …

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 …

[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 …

[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) …

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 …

Inhibition of PLK4 remodels histone methylation and activates the immune response via the cGAS-STING pathway in TP53-mutated AML

CH Man, W Lam, CC Dang, X Zeng, LC Zheng… - Blood, 2023 - ashpublications.org
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 …

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 …

[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 …

[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 …

[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 …