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 …

The genomics of inherited bone marrow failure: from mechanism to the clinic

T Wegman‐Ostrosky, SA Savage - British journal of …, 2017 - Wiley Online Library
The inherited bone marrow failure syndromes (IBMFS) typically present with significant
cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia …

Gene regulatory networks exhibit several kinds of memory: Quantification of memory in biological and random transcriptional networks

S Biswas, S Manicka, E Hoel, M Levin - Iscience, 2021 - cell.com
Gene regulatory networks (GRNs) process important information in developmental biology
and biomedicine. A key knowledge gap concerns how their responses change over time …

Boolean network modeling in systems pharmacology

P Bloomingdale, VA Nguyen, J Niu… - … of pharmacokinetics and …, 2018 - Springer
Quantitative systems pharmacology (QSP) is an emerging discipline that aims to discover
how drugs modulate the dynamics of biological components in molecular and cellular …

[HTML][HTML] A Boolean network model of the double-strand break repair pathway choice

C Ayala-Zambrano, M Yuste, S Frias… - Journal of Theoretical …, 2023 - Elsevier
Double strand break (DSB) repair is critical to maintaining the integrity of the genome. DSB
repair deficiency underlies multiple pathologies, including cancer, chromosome instability …

Antifragility predicts the robustness and evolvability of biological networks through multi-class classification with a convolutional neural network

H Kim, S Muñoz, P Osuna, C Gershenson - Entropy, 2020 - mdpi.com
Robustness and evolvability are essential properties to the evolution of biological networks.
To determine if a biological network is robust and/or evolvable, it is required to compare its …

Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model

C Fu, K Begum, PA Overbeek - PLoS One, 2016 - journals.plos.org
In most cases of primary ovarian insufficiency (POI), the cause of the depletion of ovarian
follicles is unknown. Fanconi anemia (FA) proteins are known to play important roles in …

DNA damage as a driver for growth delay: chromosome instability syndromes with intrauterine growth retardation

B García-de Teresa… - BioMed Research …, 2017 - Wiley Online Library
DNA is constantly exposed to endogenous and exogenous mutagenic stimuli that are
capable of producing diverse lesions. In order to protect the integrity of the genetic material …

Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms

L Wang, H Wang, T Wang, J Liu, W Chen… - Artificial Cells …, 2019 - Taylor & Francis
Cases of more than three primary cancers are very rare. This study analyzed the genetic
susceptibility of gene polymorphisms in three patients with multiple primary malignant …

Diagnosis of Fanconi Anaemia by ionising radiation-or mitomycin C-induced micronuclei

FZ Francies, R Wainwright, J Poole, K De Leeneer… - DNA repair, 2018 - Elsevier
Fanconi Anaemia (FA) is an autosomal recessive disorder characterised by defects in DNA
repair, associated with chromosomal instability and cellular hypersensitivity to DNA cross …