Cargando…

Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation

Introduction: Diamond Blackfan anemia (DBA) is a rare congenital disease characterized by defective maturation of the erythroid progenitors in the bone marrow, for which treatment involves steroids, chronic transfusions, or hematopoietic stem cells transplantation. Diamond Blackfan anemia is caused...

Descripción completa

Detalles Bibliográficos
Autores principales:	Piantanida, Noemy, La Vecchia, Marta, Sculco, Marika, Talmon, Maria, Palattella, Gioele, Kurita, Ryo, Nakamura, Yukio, Ronchi, Antonella Ellena, Dianzani, Irma, Ellis, Steven R., Fresu, Luigia Grazia, Aspesi, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790993/ https://www.ncbi.nlm.nih.gov/pubmed/36579335 http://dx.doi.org/10.3389/fgene.2022.1045236

Ejemplares similares

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

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
por: Aspesi, Anna, et al.
Publicado: (2018)

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
por: Aspesi, Anna, et al.
Publicado: (2017)

Emerging Therapeutic Approaches for Diamond Blackfan Anemia
por: Aspesi, Anna, et al.
Publicado: (2018)

Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
por: Aspesi, Anna, et al.
Publicado: (2018)

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
por: Aspesi, Anna, et al.
Publicado: (2014)

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

Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia
por: Qanash, Husam, et al.
Publicado: (2021)

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

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

Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond–Blackfan anemia
por: Wilkes, Mark C., et al.
Publicado: (2022)

Decoding the pathogenesis of Diamond–Blackfan anemia using single-cell RNA-seq
por: Wang, Bingrui, et al.
Publicado: (2022)

An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia
por: Da Costa, Lydie, et al.
Publicado: (2018)

Shock in the Setting of Diamond-Blackfan Anemia Relapse
por: Haddaden, Metri, et al.
Publicado: (2021)

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
por: van Dooijeweert, Birgit, et al.
Publicado: (2022)

The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis
por: Lonetti, Annalisa, et al.
Publicado: (2021)

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

Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment
por: Engidaye, Getabalew, et al.
Publicado: (2019)

How I manage children with Diamond‐Blackfan anaemia
por: Bartels, Marije, et al.
Publicado: (2018)

PSAT224 Endocrine Manifestations in Diamond Blackfan Anemia
por: Shah, Anvay, et al.
Publicado: (2022)

Animal models of Diamond-Blackfan anemia: updates and challenges
por: Liu, Y. Lucy, et al.
Publicado: (2022)

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer
por: Avondo, Federica, et al.
Publicado: (2009)

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
por: Wlodarski, Marcin W., et al.
Publicado: (2018)

The nuclear gene rpl18 regulates erythroid maturation via JAK2-STAT3 signaling in zebrafish model of Diamond–Blackfan anemia
por: Chen, Cheng, et al.
Publicado: (2020)

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

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

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

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

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

Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia
por: Chai, Kern Y., et al.
Publicado: (2019)

Mid-life extra-haematopoetic manifestations of Diamond–Blackfan anaemia
por: Muir, Christopher, et al.
Publicado: (2017)

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
por: Wilkes, M. C., et al.
Publicado: (2020)

Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems
por: Macečková, Zuzana, et al.
Publicado: (2022)

Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
por: Chiabrando, Deborah, et al.
Publicado: (2010)

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

Diamond–Blackfan anemia RPL35A: a case report
por: Noel, Colin Byron
Publicado: (2019)

Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia
por: Kazerounian, Shideh, et al.
Publicado: (2019)

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

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
por: Martinez Barrio, Alvaro, et al.
Publicado: (2009)

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
por: Vlachos, Adrianna, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_rqbb7mbl9j2k9ici676i896dva