Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains...

Full description

Bibliographic Details
Main Authors:	Aspesi, Anna, Pavesi, Elisa, Robotti, Elisa, Crescitelli, Rossella, Boria, Ilenia, Avondo, Federica, Moniz, Hélène, Da Costa, Lydie, Mohandas, Narla, Roncaglia, Paola, Ramenghi, Ugo, Ronchi, Antonella, Gustincich, Stefano, Merlin, Simone, Marengo, Emilio, Ellis, Steven R., Follenzi, Antonia, Santoro, Claudio, Dianzani, Irma
Format:	Online
Language:	English
Published:	Elsevier/North-Holland 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058751/

Similar Items

Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy
by: Macrì, Serena, et al.
Published: (2015)

An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia [version 1; referees: 2 approved]
by: Lydie Da Costa, et al.
Published: (2018-08-01)

Altered translation of GATA1 in Diamond-Blackfan anemia
by: Ludwig, Leif S., et al.
Published: (2014)

Effects of Nickel, Chlorpyrifos and Their Mixture on the Dictyostelium discoideum Proteome
by: Boatti, Lara, et al.
Published: (2012)

Oral and Dental Manifestations of Diamond-Blackfan Anemia: Case Reports
by: Ozden, Feyza Otan, et al.
Published: (2011)

Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia
by: Sjögren, Sara E., et al.
Published: (2012)

Molecular basis of Diamond–Blackfan anemia: structure and function analysis of RPS19
by: Gregory, Lynn A., et al.
Published: (2007)

Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea
by: Kim, Soon-Ki, et al.
Published: (2012)

Diamond Blackfan Anemia: a Tertiary Care Center Experience
by: Singh, Avinash Kumar, et al.
Published: (2013)

Successful Treatment of Refractory Diamond-Blackfan Anemia Using Metoclopramide and Prednisolone
by: Malbora, Barış, et al.
Published: (2012)

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia
by: Danilova, Nadia, et al.
Published: (2014)

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
by: Chae, Hyojin, et al.
Published: (2014)

Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia
by: Zhang, Zhaojun, et al.
Published: (2014)

Direct Analysis in Real Time Mass Spectrometry for the Nondestructive Investigation of Conservation Treatments of Cultural Heritage
by: Manfredi, Marcello, et al.
Published: (2016)

Blood transcriptomics of drug-naïve sporadic Parkinson’s disease patients
by: Calligaris, Raffaella, et al.
Published: (2015)

Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders
by: Palamaro, Loredana, et al.
Published: (2012)

Hemin Augments Growth and Hemoglobinization of Erythroid Precursors from Patients with Diamond-Blackfan Anemia
by: Fibach, Eitan, et al.
Published: (2012)

5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability
by: Badhai, Jitendra, et al.
Published: (2011)

Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
by: Watkins-Chow, Dawn E., et al.
Published: (2013)

Dysferlin and Other Non-Red Cell Proteins Accumulate in the Red Cell Membrane of Diamond-Blackfan Anemia Patients
by: Pesciotta, Esther N., et al.
Published: (2014)

Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing
by: Zhang, Zhaojun, et al.
Published: (2013)

In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature.
by: Esther N Pesciotta, et al.

Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients.
by: Esther N Pesciotta, et al.

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia
by: Ge, Jingping, et al.
Published: (2015)

Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond–Blackfan anaemia
by: Sjögren, Sara E., et al.
Published: (2015)

In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature
by: Pesciotta, Esther N., et al.
Published: (2015)

Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare
by: Flores Ballester, Elena, et al.
Published: (2015)

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
by: Watkins-Chow, Dawn E., et al.
Published: (2015)

Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia
by: Wan, Yang, et al.
Published: (2016)

Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency
by: Song, Binfeng, et al.
Published: (2014)

Defects of protein production in erythroid cells revealed in a zebrafish Diamond–Blackfan anemia model for mutation in RPS19
by: Zhang, Y, et al.
Published: (2014)

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome
by: Cerutti, Elisa, et al.
Published: (2007)

Distinct RNA profiles in subpopulations of extracellular vesicles: apoptotic bodies, microvesicles and exosomes
by: Crescitelli, Rossella, et al.
Published: (2013)

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report
by: Nair, Velu, et al.
Published: (2011)

The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
by: Farruggia, Piero, et al.
Published: (2012)

Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways
by: Jia, Qiong, et al.
Published: (2013)

Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways
by: Jia, Qiong, et al.
Published: (2013)

Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways
by: Jia, Qiong, et al.
Published: (2013)

Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network
by: Abbas Khan, et al.
Published: (2018-04-01)

NGS-Trex: Next Generation Sequencing Transcriptome profile explorer
by: Boria, Ilenia, et al.
Published: (2013)