Leveraging the replication stress response to optimize cancer therapy
E Cybulla, A Vindigni - Nature Reviews Cancer, 2023 - nature.com
High-fidelity DNA replication is critical for the faithful transmission of genetic information to
daughter cells. Following genotoxic stress, specialized DNA damage tolerance pathways …
daughter cells. Following genotoxic stress, specialized DNA damage tolerance pathways …
[HTML][HTML] Genetics of azoospermia
F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
[HTML][HTML] The FANCM-BLM-TOP3A-RMI complex suppresses alternative lengthening of telomeres (ALT)
The collapse of stalled replication forks is a major driver of genomic instability. Several
committed mechanisms exist to resolve replication stress. These pathways are particularly …
committed mechanisms exist to resolve replication stress. These pathways are particularly …
Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency
I Huhtaniemi, O Hovatta, A La Marca, G Livera… - Trends in Endocrinology …, 2018 - cell.com
Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …
[HTML][HTML] 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 …
[PDF][PDF] Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia
Infertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia
(NOA) is defined as the absence of spermatozoa in the ejaculate due to failed …
(NOA) is defined as the absence of spermatozoa in the ejaculate due to failed …
[HTML][HTML] 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] A homozygous FANCM frameshift pathogenic variant causes male infertility
Purpose Fanconi anemia (FA) genes play important roles in spermatogenesis. In mice,
disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM …
disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM …
[PDF][PDF] FANCM regulates repair pathway choice at stalled replication forks
Repair pathway" choice" at stalled mammalian replication forks is an important determinant
of genome stability; however, the underlying mechanisms are poorly understood. FANCM …
of genome stability; however, the underlying mechanisms are poorly understood. FANCM …
[HTML][HTML] Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display …
I Catucci, A Osorio, B Arver, G Neidhardt… - Genetics in …, 2018 - nature.com
Purpose Monoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and
PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes …
PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes …