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 …
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 …
cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia …
Common chemical inductors of replication stress: focus on cell-based studies
E Vesela, K Chroma, Z Turi, M Mistrik - Biomolecules, 2017 - mdpi.com
DNA replication is a highly demanding process regarding the energy and material supply
and must be precisely regulated, involving multiple cellular feedbacks. The slowing down or …
and must be precisely regulated, involving multiple cellular feedbacks. The slowing down or …
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Fanconi anemia is a rare disease characterized by congenital malformations, aplastic
anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia …
anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia …
Germ-Line TP53 Mutation in an Adolescent With CMML/Atypical CML and Familiar Cancer Predisposition
Atypical chronic myeloid leukemia (aCML) and chronic myelomonocytic leukemia (CMML)
are rare hematological malignancies, belonging to the group of translocation t (9; 22) …
are rare hematological malignancies, belonging to the group of translocation t (9; 22) …
Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia
Y Doubaj, A Zrhidri, SC Elalaoui, J Lyahyai… - Pan African Medical …, 2021 - ajol.info
Introduction: Fanconi anemia (FA) is a rare inherited hematological disease due to a defect
in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to …
in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to …
[PDF][PDF] DNA damage response pathways in DNA double strand break repair and hepatic metabolism
ES Moore - 2019 - ecommons.cornell.edu
The maintenance of genomic integrity and cellular homeostasis relies upon the appropriate
selection and coordination of signaling and effector pathways in response to damage or …
selection and coordination of signaling and effector pathways in response to damage or …
Common Chemical Inductors of Replication Stress: Focus on Cell-Based Studies.
K Chroma, Z Turi, M Mistrik… - Biomolecules (2218 …, 2017 - search.ebscohost.com
DNA replication is a highly demanding process regarding the energy and material supply
and must be precisely regulated, involving multiple cellular feedbacks. The slowing down or …
and must be precisely regulated, involving multiple cellular feedbacks. The slowing down or …