Tuysuz, Gulen Guler, Elif Ozel, Deniz Kupesiz, Alphan
Published in
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure (BMF) in patients with Fanconi anemia (FA). We retrospectively analyzed the records of patients with FA who underwent HSCT with a radiation-free, reduced-intensity conditioning regimen (fludarabine, cyclophosphamide, and antithymocyte globulin) alo...
Fiesco-Roa, Moisés O Giri, Neelam McReynolds, Lisa J Best, Ana F Alter, Blanche P
Published in
Blood reviews
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital abnormalities include all those seen in VACTERL-H association and those described under the PHENOS acronym. Pathogenic variants in at least 22 genes are associated with FA, wh...
Mori, Minako
学位規則第4条第1項該当
Esteban-Medina, Marina Peña-Chilet, María Loucera, Carlos Dopazo, Joaquín
Published in
BMC Bioinformatics
BackgroundIn spite of the abundance of genomic data, predictive models that describe phenotypes as a function of gene expression or mutations are difficult to obtain because they are affected by the curse of dimensionality, given the disbalance between samples and candidate genes. And this is especially dramatic in scenarios in which the availabili...
Sakai, Wataru Sugasawa, Kaoru
Published in
Genes and Environment
Fanconi anemia (FA) is a rare genetic disease characterized by the deficiency of the cellular response and repair pathway for DNA interstrand crosslink (ICL) damage. Although recent studies have revealed the detailed molecular functions of FA proteins encoded by 22 genes, the mechanism of occurrence of endogenous ICLs in the human body remains poor...
Niraj, Joshi Färkkilä, Anniina D'Andrea, Alan D.
Published in
Annual Review of Cancer Biology
Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure (BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer predisposition. FA presents two seemingly opposite characteristics: (a) massive cell death of the hematopoietic stem and progenitor cell (HSPC) compartment due to extens...
jr., brosh
Fanconi anemia (FA) is a hereditary chromosomal instability disorder often displaying congenital abnormalities and characterized by a predisposition to progressive bone marrow failure (BMF) and cancer. Over the last 25 years since the discovery of the first linkage of genetic mutations to FA, its molecular genetic landscape has expanded tremendousl...
Onishi, Sachiyo Tajika, Masahiro Tanaka, Tsutomu Ishihara, Makoto Hirayama, Yutaka Mizuno, Nobumasa Kuwahara, Takamichi Okuno, Nozomi Matsumoto, Shinpei Toriyama, Kazuhiro
...
Published in
Internal medicine (Tokyo, Japan)
Fanconi anemia (FA) is a disorder of chromosomal fragility characterized by progression to aplastic anemia, myelodysplastic syndrome, and leukemia. FA patients are also predisposed to solid cancers. A case of FA in an adult patient who developed tongue and superficial esophageal cancers following hematopoietic stem cell transplantation is reported....
Sondalle, Samuel B Longerich, Simonne Ogawa, Lisa M Sung, Patrick Baserga, Susan J
Published in
Proceedings of the National Academy of Sciences of the United States of America
Fanconi anemia (FA) is a disease of DNA repair characterized by bone marrow failure and a reduced ability to remove DNA interstrand cross-links. Here, we provide evidence that the FA protein FANCI also functions in ribosome biogenesis, the process of making ribosomes that initiates in the nucleolus. We show that FANCI localizes to the nucleolus and...
Degan, P Cappelli, E Regis, S Ravera, S
Published in
Trends in molecular medicine
Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunct...
