Published in The American Journal of Human Genetics
Summary Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A–FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of ∼65% but may widely vary according...
Published in Biochemical and Biophysical Research Communications
Fanconi anemia (FA) is an autosomal recessive chromosomal breakage disorder characterized by developmental defects, hypersensitivity toward oxygen and DNA crosslinking agents, and susceptibility to cancer. An increased level of reactive oxygen intermediates and an increased level of 8-oxoguanine in FA cells point to a defective oxygen metabolism. R...
Published in Biochemical and Biophysical Research Communications
The function of the Fanconi anemia complementation group A (FANCA) protein remains unclear. To investigate possible protein-protein interactions, we performed yeast two-hybrid screening using a FANCA fragment as bait. Sorting nexin 5 (SNX5), a new member of the human SNX family, was identified as a putative FANCA-binding protein. The interaction be...
Published in The American Journal of Human Genetics
Summary Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients with FA are hypersensitive to DNA cross-linking agents in terms of cell survival and chromosomal breakage. Of the eight co...
Published in The American Journal of Human Genetics
Summary Fanconi anemia (FA) is an autosomal recessive disorder exhibiting chromosomal fragility, bone-marrow failure, congenital abnormalities, and cancer. At least eight complementation groups have been described, with group A accounting for 60%–65% of FA patients. Mutation screening of the group A gene ( FANCA) is complicated by its highly interr...
Published in Biochemical and Biophysical Research Communications
Fanconi anemia is a chromosomal breakage disorder with eight complementation groups (A–H), and three genes ( FANCA, FANCC, and FANCG) have been identified. Initial investigations of the interaction between FANCA and FANCC, principally by co-immunoprecipitation, have proved controversial. We used the yeast two-hybrid assay to test for interactions o...
Published in The American Journal of Human Genetics
Fanconi anemia (FA) is a rare autosomal recessive disease manifested by bone-marrow failure and an elevated incidence of cancer. Cells taken from patients exhibit spontaneous chromosomal breaks and rearrangements. These breaks and rearrangements are greatly elevated by treatment of FA cells with the use of DNA cross-linking agents. The FA complemen...
Published in The Indian Journal of Pediatrics
To study the anthropometric ratios in parents (heterozygotes) of children withFanconi anemia. The study was carried out in the Department of Hematology, Institute of Child Health & Hospital for Children, Chennai. Parents of children with Fanconi anemia were the subjects of the study. Applying standard instruments and methods, various body measureme...
Published in Cancer Causes & Control
The evidence associating Fanconi anemia (FA) phenotype to in-vitro and ex-vivo oxidative stress is reviewed. A cancer-prone genetic disease, FA is characterized by delayed bone marrow failure with a progression to aplastic anemia. It is diagnosed by excess chromosomal instability induced by two clastogens, either diepoxybutane (DEB) or mitomycin C ...
Published in Annales de genetique
We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to abse...
