Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients

Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint

(2012) S. Fumagalli et al.   GENES & DEVELOPMENT

Characterization of a Novel Association between Two Trypanosome-Specific Proteins and 5S rRNA

(2012) Martin Ciganda et al.   PLoS One

Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells

(2012) S. T. Chou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro

(2012) H Moniz et al.   Cell Death & Disease

Ataxia-telangiectasia mutated (ATM) deficiency decreases reprogramming efficiency and leads to genomic instability in iPS cells

(2011) Taisuke Kinoshita et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting

(2011) J. Zou et al.   BLOOD

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

(2011) P. Jaako et al.   BLOOD

In vivo genome editing restores haemostasis in a mouse model of haemophilia

(2011) Hojun Li et al.   NATURE

Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue

(2011) Steven R. Ellis et al.   SEMINARS IN HEMATOLOGY

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

(2010) E. E. Devlin et al.   BLOOD

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

(2010) S. Dutt et al.   BLOOD

p53: Guardian of reprogramming

(2010) Sergio Menendez et al.   CELL CYCLE

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

(2010) Ilenia Boria et al.   HUMAN MUTATION

Pathogenesis of the erythroid failure in Diamond Blackfan anaemia

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

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells

(2009) Ángel Raya et al.   NATURE

Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases

(2009) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

Hematopoietic and Endothelial Differentiation of Human Induced Pluripotent Stem Cells

(2009) Kyung-Dal Choi et al.   STEM CELLS

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

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

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

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

(2008) S. Robledo et al.   RNA

Robust, Persistent Transgene Expression in Human Embryonic Stem Cells Is Achieved with AAVS1-Targeted Integration

(2007) Joseph R. Smith et al.   STEM CELLS