Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair
JD Peake, E Noguchi - Human genetics, 2022 - Springer
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well
as a predisposition to malignancies including leukemia and squamous cell carcinoma …
as a predisposition to malignancies including leukemia and squamous cell carcinoma …
Identifying and treating refractory ITP: difficulty in diagnosis and role of combination treatment
O Miltiadous, M Hou, JB Bussel - Blood, The Journal of the …, 2020 - ashpublications.org
Immune thrombocytopenia (ITP) is the most common acquired thrombocytopenia after
chemotherapy-induced thrombocytopenia. Existing guidelines describe the management …
chemotherapy-induced thrombocytopenia. Existing guidelines describe the management …
Functions of breast cancer predisposition genes: implications for clinical management
A Yoshimura, I Imoto, H Iwata - International journal of molecular sciences, 2022 - mdpi.com
Approximately 5–10% of all breast cancer (BC) cases are caused by germline pathogenic
variants (GPVs) in various cancer predisposition genes (CPGs). The most common …
variants (GPVs) in various cancer predisposition genes (CPGs). The most common …
DNA repair syndromes and cancer: insights into genetics and phenotype patterns
R Sharma, S Lewis, MW Wlodarski - Frontiers in Pediatrics, 2020 - frontiersin.org
DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …
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 …
pathogenic variants in any of 22 FANC genes, which cooperate in the FA/BRCA pathway …
MRE11-dependent instability in mitochondrial DNA fork protection activates a cGAS immune signaling pathway
Mitochondrial DNA (mtDNA) instability activates cGAS-dependent innate immune signaling
by unknown mechanisms. Here, we find that Fanconi anemia suppressor genes are acting …
by unknown mechanisms. Here, we find that Fanconi anemia suppressor genes are acting …
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) …
genetic disease characterized by developmental abnormalities, bone marrow failure (BMF) …
[HTML][HTML] Fanconi anemia
PA Mehta, C Ebens - 2021 - europepmc.org
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and
increased risk for malignancy. Physical abnormalities, present in approximately 75% of …
increased risk for malignancy. Physical abnormalities, present in approximately 75% of …
Erythrocytes as a preferential target of oxidative stress in blood
J Fujii, T Homma, S Kobayashi, P Warang… - Free Radical …, 2021 - Taylor & Francis
Red blood cells (RBC) are specifically differentiated to transport oxygen and carbon dioxide
in the blood and they lack most organelles, including mitochondria. The autoxidation of …
in the blood and they lack most organelles, including mitochondria. The autoxidation of …
Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome
A Helbling-Leclerc, C Garcin, F Rosselli - Cell Death & Differentiation, 2021 - nature.com
Fanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to
mutations in genes encoding proteins involved in replication fork protection, DNA interstrand …
mutations in genes encoding proteins involved in replication fork protection, DNA interstrand …