Article
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Blood - 1 Sept 2008
Farrar Jason E, Nater Michelle, Caywood Emi, McDevitt Michael A, Kowalski Jeanne, Takemoto Clifford M, Talbot C Conover, Meltzer Paul, Esposito Diane, Beggs Alan H, Schneider Hal E, Grabowska Agnieszka, Ball Sarah E, Niewiadomska Edyta, Sieff Colin A, Vlachos Adrianna, Atsidaftos Eva, Ellis Steven R, Lipton Jeffrey M, Gazda Hanna T, Arceci Robert J
Abstract excerpt
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, congenital abnormalities, and cancer predisposition. Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients. We used a candidate gene strategy combining high-resolution genomic mapping and gene expression microarray in the analysis of 2 DBA patients with chromosome...
Topics
- Amino Acid Sequence
- Anemia, Diamond-Blackfan
- Apoptosis
- Base Sequence
- Case-Control Studies
- Cell Line
- Cell Proliferation
- Chromosome Deletion
- Chromosome Mapping