Molecular mechanisms of fanconi anemia

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.

A. Malcolm and R. TaylorGrover C. Bagby, Jr.Laura S. HanelineSusan M. Gordon and Manuel BuchwaldFilippo RosselliGary M. KupferTakayuki YamashitaTetsuya Otsuki and Johnson M. LiuGiovanni Pagano and Shamim I. AhmadMadeleine CarreauAkira Tachibana

Preface	p. vii
1 Clinical Features of Fanconi Anaemia	p. 1
Genetics of Fanconi Anaemia	p. 2
Clinical Features of Fanconi Anaemia	p. 3
Fanconi Anaemia and Nijmegen Breakage Syndrome	p. 5
Confirmation of the Diagnosis in FA Patients	p. 6
Relationship of Complementation Group to Clinical Features	p. 7
Evidence for Modifying Mutations	p. 10
2 The Genetic Basis of Fanconi Anemia	p. 13
Genetic Heterogeneity	p. 13
The FANC Genes	p. 14
FA Protein Complexes	p. 21
3 The FANCA Gene and Its Products	p. 28
FANCA Gene	p. 28
FANCA Protein	p. 29
FANCA Function	p. 30
Acquired AML and FANCA Defects	p. 32
4 The FANCC Gene and Its Products	p. 36
Cloning and Characteristics of the FANCC Gene	p. 36
Mammalian Homologs of FANCC	p. 37
FANCC Gene Mutations	p. 39
Expression of the FANCC Gene Products	p. 40
FANCC Protein Expression and Stability	p. 41
FANCC Subcellular Localization	p. 41
FANCC in the Cellular Response to ICL Inducers	p. 42
Apoptosis	p. 43
FANCC Loss of Function	p. 43
FANCC and Cytokine Signalling	p. 45
FANCC and Oxidative Stress	p. 47
5 The FANC B, E, F and G Genes and Their Products	p. 54
FANCB	p. 55
FANCG	p. 56
FANCF	p. 57
FANCE	p. 57
6 FANCD1/BRCA2 and FANCD2	p. 61
The FA-D Complementation Group	p. 61
7 The-FANC Genome Surveillance Complex	p. 67
Historical Overview	p. 67
Structure of the FA Core Complex	p. 69
Functions of the FA Core Complex	p. 70
Perspectives	p. 71
8 Other Proteins and Their Interactions with FA Gene Products	p. 74
FANCC-Binding Proteins	p. 74
FANCA-Binding Proteins	p. 75
FA Protein Complex and Human [alpha] Spectrin II	p. 78
9 Fanconi Anaemia and Oxidative Stress: Cellular and Clinical Phenotypes	p. 82
10 Therapy for Fanconi Anemia	p. 92
Androgens	p. 92
Hematopoietic Growth Factors	p. 92
BM Transplants	p. 93
Gene Therapy	p. 96
Prospects for Therapy	p. 98
11 Mutational Analyses of Fanconi Anemia Genes in Japanese Patients	p. 103
Patients, Cell Culture and Mutation Analysis	p. 103
Sequence Variations in the FANCA Gene	p. 104
Sequence Variations in the FANCG Gene	p. 108
Mutations of the FANCC Gene	p. 111
Mutations of Other FA Genes	p. 111
Characteristics and Genetic Basis of Japanese FA Patients	p. 111
Index	p. 115

Available:*

On Order

Summary

Summary

Table of Contents