A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

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

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

Pathogenesis of the erythroid failure in Diamond Blackfan anaemia

(2009) Colin A. Sieff et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2009) P. Quarello et al.   HAEMATOLOGICA

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

Dominant negative factors in health and disease

(2009) Reiner A Veitia   JOURNAL OF PATHOLOGY

Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis

(2009) K. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

(2008) N. Danilova 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

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia

(2008) Tamayo Uechi et al.   HUMAN MOLECULAR GENETICS

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

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Ribosomal Protein S19 Deficiency Leads to Reduced Proliferation and Increased Apoptosis but Does Not Affect Terminal Erythroid Differentiation in a Cell Line Model of Diamond-Blackfan Anemia

(2007) Koich Miyake et al.   STEM CELLS