Anemia: progress in molecular mechanisms and therapies

VG Sankaran, MJ Weiss - Nature medicine, 2015 - nature.com
Anemia is a major source of morbidity and mortality worldwide. Here we review recent
insights into how red blood cells (RBCs) are produced, the pathogenic mechanisms …

Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications

W Wang, S Nag, X Zhang, MH Wang… - Medicinal research …, 2015 - Wiley Online Library
Ribosomes are essential components of the protein synthesis machinery. The process of
ribosome biogenesis is well organized and tightly regulated. Recent studies have shown …

Ribosomopathies: how a common root can cause a tree of pathologies

N Danilova, HT Gazda - Disease models & mechanisms, 2015 - journals.biologists.com
Defects in ribosome biogenesis are associated with a group of diseases called the
ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes …

The ribosomal basis of Diamond‐Blackfan Anemia: mutation and database update

I Boria, E Garelli, HT Gazda, A Aspesi… - Human …, 2010 - Wiley Online Library
Abstract Diamond‐Blackfan Anemia (DBA) is characterized by a defect of erythroid
progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal …

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis

JM Lipton, SR Ellis - Hematology/oncology clinics of North America, 2009 - Elsevier
Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder
characterized by erythroid failure, congenital anomalies, and a predisposition to cancer …

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

P Jaako, J Flygare, K Olsson, R Quere… - Blood, The Journal …, 2011 - ashpublications.org
Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a
functional haploinsufficiency of genes encoding for ribosomal proteins. Among these genes …

[HTML][HTML] An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity

SV Bhoopalan, JS Yen, T Mayuranathan… - JCI insight, 2023 - ncbi.nlm.nih.gov
Diamond-Blackfan anemia (DBA) is a genetic blood disease caused by heterozygous loss-
of-function mutations in ribosomal protein (RP) genes, most commonly RPS19. The …

Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia

RA Voit, X Liao, A Caulier, M Antoszewski, B Cohen… - Cell stem cell, 2025 - cell.com
Gene therapy using hematopoietic stem and progenitor cells is altering the therapeutic
landscape for patients with hematologic, immunologic, and metabolic disorders but has not …

[HTML][HTML] Diamond Blackfan anemia: genetics, pathogenesis, diagnosis and treatment

G Engidaye, M Melku, B Enawgaw - Ejifcc, 2019 - ncbi.nlm.nih.gov
Abstract Diamond Blackfan Anaemia (DBA) is a sporadic inherited anemia with broad
spectrum of anomalies that are presented soon after delivery. It is inherited mainly in …

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

L Garçon, J Ge, SH Manjunath, JA Mills… - Blood, The Journal …, 2013 - ashpublications.org
Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia
and tissue morphogenic abnormalities. Most DBA cases are caused by heterozygous null …