Tategu, Moe Arauchi, Takako Tanaka, Rena Nakagawa, Hiroki Yoshida, Kenichi
Published in
Gene regulation and systems biology
Fanconi anemia (FA) is an autosomal recessive disorder characterized by congenital abnormalities, bone marrow failure, chromosome fragility, and cancer susceptibility. At least eleven members of the FA gene family have been identified using complementation experiments. Ubiquitin-proteasome has been shown to be a key regulator of FA proteins and the...
Wreesmann, Volkert B. Estilo, Cherry Eisele, David W. Singh, Bhuvanesh Wang, Steven J.
Published in
ORL
Background/Aims: Much of our understanding of human cancer has come from studies of the hereditary cancer predisposition syndromes. Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA crosslinking agents, progressive bone marrow failure, and cancer predisposition to solid malignancies, especially...
Lamine, F. Turki, Z. Mrad, R. Ben Salem, L. Ben Hafsa, I. Akrout, S. Ben Slama, C.
Published in
Annales d'Endocrinologie
Fanconi anemia is a rare disorder inherited by recessive autosomic transmission belonging to the group of chromosomal instability syndromes. It is characterized by progressively developing medullary aplasia, various congenital malformations and especially a high risk of cancer, particularly acute myeloblastic leukemia and certain solid tumors. The ...
Medeiros, C.R. de Bitencourt, M.A. Zanis-Neto, J. Maluf, E.C.P. Carvalho, D.S. Bonfim, C.S. Funke, V.M. Setubal, D.C. Farah, N. Pasquini, R.
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We transplanted 47 patients with Fanconi anemia using an alternative source of hematopoietic cells. The patients were assigned to the following groups: group 1, unrelated bone marrow (N = 15); group 2, unrelated cord blood (N = 17), and group 3, related non-sibling bone marrow (N = 15). Twenty-four patients (51%) had complete engraftment, which was...
Salum, Fernanda Gonçalves Martins, Gabriela Botelho Figueiredo, Maria Antonia Zancanaro de Cherubini, Karen Yurgel, Liliane Soares Torres-Pereira, Cassius
Fanconi anemia (FA) is an autosomal recessive disorder that might cause a variety of congenital and developmental abnormalities. The most important features of FA are progressive bone marrow failure and development of malignancies, particularly acute myeloid leukemia and solid tumors. This paper reports the case of a 12-year-old patient with FA ass...
Lee, Kyong Yun Yang, Insil Park, Jung-Eun Baek, Ok-Ryun Chung, Kee Yang Koo, Hyeon-Sook
Published in
Biochemical and Biophysical Research Communications
In this study, we set out to investigate the role of Fanconi anemia complementation group D2 protein (FANCD2) in developmental stage-specific DNA damage responses in Caenorhabditis elegans. A mutant C. elegans strain containing a deletion in the gene encoding the FANCD2 homolog, FCD-2, exhibited egg-laying defects, precocious oogenesis, and partial...
Bechtold, Astrid Friedl, Richard Kalb, Reinhard Gottwald, Benni Neveling, Kornelia Gavvovidis, Ioannis Herterich, Sabine Schindler, Detlev Hoehn, Holger
Published in
Fetal Diagnosis and Therapy
Objective: To explore the potential of flow cytometry in the prenatal exclusion or confirmation of Fanconi anemia (FA). Methods: Indications for prenatal diagnosis were (1) FA-negative family history, but suspicious ultrasound findings such as radial ray aplasia, (2) FA-positive family history, but without knowledge of the affected gene and/or muta...
Collins, Natalie Kupfer, Gary M.
Published in
International Journal of Hematology
Fanconi anemia (FA) is a rare inherited disorder characterized clinically by aplastic anemia, developmental defects, and a susceptibility to cancer. Eleven complementation groups have been identified (FA-A, -B, -C, -D1, -D2, -E, -F, -G, -I, -J, and -L), and the genes responsible for 9 groups (FANCA, B, C, D1, D2, E, F,G, and L) have been cloned.The...
Magdalena, N. Pilonetto, D.V. Bitencourt, M.A. Pereira, N.F. Ribeiro, R.C. Jeng, M. Pasquini, R.
Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of tr...
Kutler, David I. Auerbach, Arleen D.
Published in
Familial Cancer
Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patie...
