Molecular Mechanisms of Fanconi Anemia
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Edited By:Shamim I. AhmadNottingham Trent University Nottingham, England Sandra H. Kirk School of Science and Technology, Nottingham Trent University ISBN: 978-0-387-31972-8 Published: 2006-02-24 This book may be purchased as an eBook (pdf) for $99, or individual chapters (pdf) may be purchased from the list below for $19. |
Fanconi anemia (FA) is a rare largely autosomal recessive genetic disorder (one complementation group being X?linked) that was first recognized almost 40 years ago as a cause of juvenile leukemia. Other phenotypes include bone marrow failure leading to aplastic anemia, growth retardation, congenital malformations of renal, cardiac, skeletal and skin structures, pancytopenia and pronounced cancer predisposition. Working with the leading researchers and clinicians in the field, this book has been produced to provide a comprehensive treatise on FA. This covers in detail what is known of the 12 complementation groups identified to date. Molecular Mechanisms of Fanconi Anemia will give research students a platform for further investigation, and act as a source of information regarding experimental design. Clinicians will find this title useful for its comprehensive description of Fanconi Anemia and information on the latest molecular theories underlying its causes.
Chapters available from this book
Fanconi Anaemia and Oxidative Stress: Cellular and Clinical Phenotypes
Giovanni Pagano and Shamim I. Ahmad
The cellular and clinical phenotypes of Fanconi Anaemia (FA) have been associated with a set of redox abnormalities using evidence arising from in vitro, in vivo and molecular studies. The available information points to: (i) the influence of oxygen and antioxidants in chromosomal instability and in...
Clinical Features of Fanconi Anaemia
A. Malcolm R. Taylor
Fanconi anaemia is an autosomal recessive disorder in which patients develop bone mar row failure and aplastic anaemia but this can occur at widely differing ages from the first year to age 12 years or more. This means that often the diagnosis is made before the onset of any haematological abnorm...
The Genetic Basis of Fanconi Anemia
Grover C. Bagby, Jr.
Seventy-five years ago, Dr. Guido Fanconi reported three siblings who exhibited both congenital defects and aplastic anemia.1 Since then, we have learned that Fanconi anemia (FA) is a rare multigenic disorder (a prevalence of 1-5 per million2), that predisposes children and adults to life-threate...
The FANC B, E, F and G Genes and their Products
Filippo Rosselli
The rare autosomal recessive syndrome Fanconi anemia (FA) leads to bone marrow failure and malignancy predisposition. Moreover, patients may present with several congenital anomalies of the skeleton and genito-urinary tract, growth retardation and hyperpigmentation of the skin. Cells from FA pati...
The FANCA Gene and its Products
L. S. Haneline
Fanconi anemia (FA), type A is the most common FA complementation type with muta tions in the FANCA gene accounting for approximately 65% of cases.1,2 The FANCA protein is recognized as an integral component of the multimeric FA protein nuclear complex, which participates in activation of the ubi...
FANCD1/BRCA2 and FANCD2
Gary M.Kupfer
The field of FA was both excited as well as surprised when the first cloned genes encoded proteins that resembled no known protein motif. Several binding proteins were described, yet no biochemical function could be discerned. Now, 11 years after the cloning of FANCC, we have in hand 8 FA genes, ...
The FANC Genome Surveillance Complex
Takayuki Yamashita
FA is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, congenital anomalies and susceptibility to hematological and solid malignancies. The most consistent feature of FA cells is their hypersensitivity to DNA cross-linking agents such as diepoxybutane (DEB...
Mutational Analyses of Fanconi Anemia Genes in Japanese Patients
Akira Tachibana
Fanconi anemia (FA) is an autosomal recessive disorder characterized by a progressive pancytopenia associated with congenital anomalies and high predisposition to malig nancies.1 Certain FA cell lines are hypersensitive to DNA cross-linking agents such as mitomycin C (MMC) and diepoxybutane (DEB)...
Therapy for Fanconi Anemia
Madeleine Carreau
Treatment of the hematological manifestation in Fanconi anemia is first supportive (trans fusions) with attempts to stimulate hematopoiesis with either androgens, usually oxymetholone, or the hematopoietic growth factor granulocyte-colony stimulating factor (G-CSF), all of which are aimed at tran...
Other Proteins and Their Interactions With FA Gene Products
Tetsuya Otsuki, Johnson M. Liu
Fanconi anemia (FA) is a genetically heterogeneous disorder, consisting of at least eight complementation groups (FA-A, -B, -C, -D1, -D2, -E, -F and –G).1-3 To date, seven FA genes, FANC-A, -C, -D1 (BRCA2), -D2, -E, -F and –G, have been identified, but the function of each gene product remains un...
The FANCC Gene and its Products
Susan M. Gordon and Manuel Buchwald
Fanconi anaemia (FA) is an autosomal recessive disorder characterized by progressive pancytopaenia and predisposition to malignancy, often accompanied by congenital malformations. The cellular phenotype of FA includes increased chromosomal instability and accumulation in the G2 phase of the cell ...
