The ribosomal basis of diamond-blackfan anemia: mutation and database update

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

(2010) Leana Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe iron overload in Blackfan-Diamond anemia: A case-control study

(2009) Simona Roggero et al.   AMERICAN JOURNAL OF HEMATOLOGY

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond–Blackfan anemia

(2009) Jitendra Badhai et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Signaling to p53: Ribosomal Proteins Find Their Way

(2009) Yanping Zhang et al.   CANCER CELL

Regulation of nucleolar signalling to p53 through NEDDylation of L11

(2009) Anders Sundqvist et al.   EMBO REPORTS

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

(2009) P. Quarello et al.   HAEMATOLOGICA

Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis

(2009) Jeffrey M. Lipton et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

(2009) Radek Cmejla et al.   HUMAN MUTATION

Ribosomal Protein S7 Is Both a Regulator and a Substrate of MDM2

(2009) Yan Zhu et al.   MOLECULAR CELL

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

(2009) Stefano Fumagalli et al.   NATURE CELL BIOLOGY

Loss of Ribosomal Protein L11 Affects Zebrafish Embryonic Development through a p53-Dependent Apoptotic Response

(2009) Anirban Chakraborty et al.   PLoS One

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

(2008) Hanna T. Gazda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

(2008) J. E. Farrar et al.   BLOOD

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

(2008) Adrianna Vlachos et al.   BRITISH JOURNAL OF HAEMATOLOGY

Gene therapy of Diamond Blackfan anemia CD34+ cells leads to improved erythroid development and engraftment following transplantation

(2008) Johan Flygare et al.   EXPERIMENTAL HEMATOLOGY

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia

(2008) A. Cretien et al.   HAEMATOLOGICA

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

(2008) V. Choesmel et al.   HUMAN MOLECULAR GENETICS

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia

(2008) Ilenia Boria et al.   HUMAN MUTATION

RPS19 mutations in patients with Diamond-Blackfan anemia

(2008) Maria Francesca Campagnoli et al.   HUMAN MUTATION