Chromosome instability in Fanconi anemia: from breaks to phenotypic consequences

B García-de-Teresa, A Rodríguez, S Frias - Genes, 2020 - mdpi.com
Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited
pathogenic variants in any of 22 FANC genes, which cooperate in the FA/BRCA pathway …

A new frontier in Fanconi anemia: From DNA repair to ribosome biogenesis

A Gueiderikh, F Maczkowiak-Chartois, F Rosselli - Blood reviews, 2022 - Elsevier
Abstract Described by Guido Fanconi almost 100 years ago, Fanconi anemia (FA) is a rare
genetic disease characterized by developmental abnormalities, bone marrow failure (BMF) …

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia

M Sebert, S Gachet, T Leblanc, A Rousseau, O Bluteau… - Cell Stem Cell, 2023 - cell.com
Fanconi anemia (FA) patients experience chromosome instability, yielding hematopoietic
stem/progenitor cell (HSPC) exhaustion and predisposition to poor-prognosis myeloid …

Genotoxic aldehyde stress prematurely ages hematopoietic stem cells in a p53-driven manner

M Wang, LTL Brandt, X Wang, H Russell, E Mitchell… - Molecular cell, 2023 - cell.com
Aged hematopoietic stem cells (HSCs) display diminished self-renewal and a myeloid
differentiation bias. However, the drivers and mechanisms that underpin this fundamental …

PU. 1 enforces quiescence and limits hematopoietic stem cell expansion during inflammatory stress

JS Chavez, JL Rabe, D Loeffler, KC Higa… - Journal of Experimental …, 2021 - rupress.org
Hematopoietic stem cells (HSCs) are capable of entering the cell cycle to replenish the
blood system in response to inflammatory cues; however, excessive proliferation in …

Deregulated protein homeostasis constrains fetal hematopoietic stem cell pool expansion in Fanconi anemia

N Kovuru, M Mochizuki-Kashio, T Menna… - Nature …, 2024 - nature.com
Demand-adjusted and cell type specific rates of protein synthesis represent an important
safeguard for fate and function of long-term hematopoietic stem cells. Here, we identify …

[HTML][HTML] Shared molecular, cellular, and environmental hallmarks in cardiovascular disease and cancer: any place for drug repurposing?

E Avolio, B Bassani, M Campanile… - Pharmacological …, 2024 - Elsevier
Cancer and cardiovascular disease (CVD) are the two biggest killers worldwide. Specific
treatments have been developed for the two diseases. However, mutual therapeutic targets …

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

MÓ Fiesco-Roa, B García-de Teresa… - Frontiers in …, 2022 - frontiersin.org
Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group
of genetic diseases. To date, at least 13 IBMFS have been characterized. Their …

NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair step

N Li, Y Xu, H Chen, L Chen, Y Zhang, T Yu, R Yao… - Cell Reports, 2022 - cell.com
Interstrand crosslinks (ICLs) repair by the canonical Fanconi anemia (FA) pathway
generates double-strand breaks (DSBs), which are subsequently repaired by the …

TGFβ pathway is required for viable gestation of Fanconi anemia embryos

A Rodríguez, M Epperly, J Filiatrault, M Velázquez… - PLoS …, 2022 - journals.plos.org
Overexpression of the TGFβ pathway impairs the proliferation of the hematopoietic stem and
progenitor cells (HSPCs) pool in Fanconi anemia (FA). TGFβ promotes the expression of …