Diamond-Blackfan anemia, ribosome and erythropoiesis.

[1]  B. Ebert,et al.  Ribosomopathies: human disorders of ribosome dysfunction. , 2010, Blood.

[2]  Alfredo Brusco,et al.  Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations , 2010, Haematologica.

[3]  H. Tamary,et al.  Genetic variants in the noncoding region of RPS19 gene in Diamond‐Blackfan anemia: Potential implications for phenotypic heterogeneity , 2010, American journal of hematology.

[4]  Jason E. Farrar,et al.  Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. , 2009, American journal of human genetics.

[5]  S. Ellis,et al.  Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. , 2009, Hematology/oncology clinics of North America.

[6]  P. Pandolfi,et al.  Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction , 2009, Nature Cell Biology.

[7]  Jiri Petrak,et al.  Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond‐Blackfan anemia , 2009, Human mutation.

[8]  A. Chakraborty,et al.  Loss of Ribosomal Protein L11 Affects Zebrafish Embryonic Development through a p53-Dependent Apoptotic Response , 2009, PloS one.

[9]  Shuo Lin,et al.  Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. , 2008, Blood.

[10]  Alan H Beggs,et al.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. , 2008, American journal of human genetics.

[11]  D. Bodine,et al.  A Mouse Model for Diamond-Blackfan Anemia Demonstrates a Dominant Negative Effect of a Point Mutation in the RPS19 Gene , 2008 .

[12]  S. Karlsson,et al.  Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. , 2008, Experimental hematology.

[13]  S. Karlsson,et al.  Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference , 2008, British journal of haematology.

[14]  C Conover Talbot,et al.  Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. , 2008, Blood.

[15]  Christopher Y. Park,et al.  Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects , 2008, Nature Genetics.

[16]  I. Dianzani,et al.  RPS19 mutations in patients with Diamond‐Blackfan anemia , 2008, Human mutation.

[17]  P. Gleizes,et al.  Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. , 2008, Human molecular genetics.

[18]  S. Karlsson,et al.  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 , 2008, Stem cells.

[19]  Jiri Petrak,et al.  Ribosomal protein S17 gene (RPS17) is mutated in Diamond‐Blackfan anemia , 2007, Human mutation.

[20]  T. Golub,et al.  Identification of RPS14 as a 5q- syndrome gene by RNA interference screen , 2007, Nature.

[21]  M. Cazzola,et al.  Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study , 2007, European journal of haematology.

[22]  Bejaoui Mohamed,et al.  Successful treatment of Diamond Blackfan anemia with metoclopramide. , 2007, Journal of pediatric hematology/oncology.

[23]  P. Gleizes,et al.  Molecular basis of Diamond–Blackfan anemia: structure and function analysis of RPS19 , 2007, Nucleic acids research.

[24]  D. Pospíšilová,et al.  Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. , 2007, Haematologica.

[25]  M. Zucchetti,et al.  Imatinib concentrations in human milk. , 2007, Blood.

[26]  Jacqueline Noaillac-Depeyre,et al.  Impaired ribosome biogenesis in Diamond-Blackfan anemia. , 2007, Blood.

[27]  A. Beggs,et al.  Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. , 2006, American journal of human genetics.

[28]  Isaac S Kohane,et al.  Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond‐Blackfan Anemia , 2006, Stem cells.

[29]  M. Dai,et al.  Regulation of the MDM2-p53 Pathway by Ribosomal Protein L11 Involves a Post-ubiquitination Mechanism* , 2006, Journal of Biological Chemistry.

[30]  J. Lipton,et al.  Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry , 2006, Pediatric blood & cancer.

[31]  Tatsuo Tanaka,et al.  A novel nucleolar protein interacts with ribosomal protein S19. , 2006, Biochemical and biophysical research communications.

[32]  S. Bertolone,et al.  Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis* , 2005, Journal of Biological Chemistry.

[33]  B. Bader-Meunier,et al.  Diamond-blackfan anemia and growth status: the French registry. , 2005, The Journal of pediatrics.

[34]  T. Sugimoto,et al.  Use of rituximab to treat refractory Diamond‐Blackfan anemia , 2005, European journal of haematology.

[35]  S. Ball,et al.  Articles on similar topics can be found in the following Blood collections , 2003 .

[36]  A. Taher,et al.  Diamond-Blackfan anemia responding to valproic acid. , 2004, Blood.

[37]  M. Dai,et al.  Inhibition of MDM2-mediated p53 Ubiquitination and Degradation by Ribosomal Protein L5* , 2004, Journal of Biological Chemistry.

[38]  K. Itahana,et al.  Inhibition of HDM2 and Activation of p53 by Ribosomal Protein L23 , 2004, Molecular and Cellular Biology.

[39]  M. Dai,et al.  Ribosomal Protein L23 Activates p53 by Inhibiting MDM2 Function in Response to Ribosomal Perturbation but Not to Translation Inhibition , 2004, Molecular and Cellular Biology.

[40]  K. Bhat,et al.  Essential role of ribosomal protein L11 in mediating growth inhibition‐induced p53 activation , 2004, The EMBO journal.

[41]  S. Karlsson,et al.  Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation , 2004, Molecular and Cellular Biology.

[42]  S. Ball,et al.  Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity , 2004, British journal of haematology.

[43]  T. Allio,et al.  Ribosomal Protein L11 Negatively Regulates Oncoprotein MDM2 and Mediates a p53-Dependent Ribosomal-Stress Checkpoint Pathway , 2003, Molecular and Cellular Biology.

[44]  P. Gascard,et al.  Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. , 2003, Blood.

[45]  M. Kubbutat,et al.  Regulation of HDM2 activity by the ribosomal protein L11. , 2003, Cancer cell.

[46]  Hiroshi Nishiura,et al.  Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer. , 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

[47]  Johan Richter,et al.  Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. , 2002, Blood.

[48]  J. Abkowitz,et al.  Response of Diamond-Blackfan anemia to metoclopramide: evidence for a role for prolactin in erythropoiesis. , 2002, Blood.

[49]  Amal El-Beshlawy,et al.  Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results. , 2002, Pediatrics.

[50]  K. Kim,et al.  Clinical characteristics of children with complicated pneumonia caused by Streptococcus pneumoniae. , 2002, Pediatrics.

[51]  D N Firmin,et al.  Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. , 2001, European heart journal.

[52]  F. Amalric,et al.  Fibroblast growth factor-2 interacts with free ribosomal protein S19. , 2001, Biochemical and biophysical research communications.

[53]  A. Vlachos,et al.  The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. , 2001, Journal of pediatric hematology/oncology.

[54]  J. Lipton,et al.  Osteogenic Sarcoma Associated With Diamond–Blackfan Anemia: A Report From the Diamond–Blackfan Anemia Registry , 2001, Journal of pediatric hematology/oncology.

[55]  I. Dianzani,et al.  Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. , 2000, Blood cells, molecules & diseases.

[56]  J. Zavadil,et al.  Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. , 2000, Blood cells, molecules & diseases.

[57]  Giri,et al.  Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond–Blackfan anaemia , 2000, British journal of haematology.

[58]  I. Dianzani,et al.  Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. , 1999, Blood.

[59]  T. Leblanc,et al.  Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients , 1999, Pediatric Research.

[60]  Peter Gustavsson,et al.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia , 1999, Nature Genetics.

[61]  P. Gane,et al.  High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP). , 1998, Blood.

[62]  S. Saebøe-Larssen,et al.  Ribosomal protein insufficiency and the minute syndrome in Drosophila: a dose-response relationship. , 1998, Genetics.

[63]  N. Dahl,et al.  Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. , 1997, Journal of medical genetics.

[64]  W. Kamps,et al.  Is there a role for interleukin‐3 in Diamond‐Blackfan anaemia? Results of a European multicentre study , 1995, British journal of haematology.

[65]  C. McGuckin,et al.  Diamond‐Blackfan anaemia: three patterns of in vitro response to haemopoietic growth factors , 1995, British journal of haematology.

[66]  A. Levine,et al.  The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes , 1994, Molecular and cellular biology.

[67]  N. Casadevall,et al.  Age‐related alterations in erythroid and granulopoietic progenitors in Diamond‐Blackfan anaemia , 1994, British journal of haematology.

[68]  J. Lipton,et al.  Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. , 1994, Blood.

[69]  J. Lipton,et al.  An intrinsic progenitor defect in Diamond‐Blackfan anaemia , 1989, British journal of haematology.

[70]  B. Glader,et al.  Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond‐Blackfan anaemia and other haematologic diseases , 1988, British journal of haematology.

[71]  J. Lipton,et al.  Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. , 1986, Blood.

[72]  M. Rosbash,et al.  A Drosophila Minute gene encodes a ribosomal protein , 1985, Nature.

[73]  M. Freedman,et al.  Erythroid colony growth in congenital hypoplastic anemia. , 1976, The Journal of clinical investigation.

[74]  H. Josephs Anaemia of infancy and early childhood. , 1936 .

[75]  Almass-Houd Aguissa-Touré,et al.  Anémie de Diamond-Blackfan - Le côté obscur de la biogenèse des ribosomes , 2009 .

[76]  L. D. Da Costa,et al.  [Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis]. , 2009, Medecine sciences : M/S.

[77]  Shuo Lin,et al.  Ribosomal protein S 19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p 53 protein family , 2008 .

[78]  L. D. Da Costa,et al.  Metoclopramide treatment in DBA patients: no complete response in a French prospective study. , 2007, Blood.

[79]  A. Berrebi,et al.  High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. , 2006, Haematologica.

[80]  D. Pospíšilová,et al.  Translational efficiency in patients with Diamond-Blackfan anemia. , 2006, Haematologica.

[81]  Claudio Santoro,et al.  Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. , 2005, Haematologica.

[82]  S. Ball,et al.  Molecular diagnosis of Diamond-Blackfan anemia. , 2004, Methods in molecular medicine.

[83]  G. Narla,et al.  Ribosomal protein S19 expression during erythroid differentiation. , 2003, Blood.

[84]  L. D. Da Costa,et al.  Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. , 2003, The hematology journal : the official journal of the European Haematology Association.

[85]  F. Locatelli,et al.  Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors. , 1999, Experimental hematology.

[86]  A. Lambertsson The minute genes in Drosophila and their molecular functions. , 1998, Advances in genetics.

[87]  M. Kalmanti,et al.  Correlation of in vitro enhancement of erythropoiesis and clinical response to steroids in Diamond-Blackfan anaemia. , 1993, Haematologia.

[88]  Halpérin Ds,et al.  Diamond-blackfan anemia: etiology, pathophysiology, and treatment. , 1989, The American journal of pediatric hematology/oncology.

[89]  K. Starling,et al.  Hypoplastic anemia. , 1973, The Journal of pediatrics.