Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia
Sign Up to like & getrecommendations! Published in 2022 at "FEBS Open Bio"
DOI: 10.1002/2211-5463.13444
Abstract: Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine‐tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA,… read more here.
Keywords: biogenesis; diamond blackfan; blackfan anemia;
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24323
Abstract: Diamond–Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majority of the cases genetically described are linked to heterozygous pathogenic variants in more than 20… read more here.
Keywords: diamond blackfan; blackfan anemia; rpl8 variants;
Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders
Sign Up to like & getrecommendations! Published in 2018 at "STEM CELLS"
DOI: 10.1002/stem.2735
Abstract: In vitro surrogate models of human erythropoiesis made many contributions to our understanding of the extrinsic and intrinsic regulation of this process in vivo and how they are altered in erythroid disorders. In the past,… read more here.
Keywords: erythroid disorders; culture; blackfan anemia; diamond blackfan ... See more keywords
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-17100-z
Abstract: Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with ribosomal gene mutations that lead to ribosomal insufficiency. DBA is characterized by anemia, congenital anomalies, and cancer predisposition. Treatment for DBA is… read more here.
Keywords: like kinase; nemo like; blackfan anemia; diamond blackfan ... See more keywords
Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Pathology international"
DOI: 10.1111/pin.13168
Abstract: Diamond-Blackfan anemia (DBA) is a genetic disorder caused by mutations in genes encoding ribosomal proteins and characterized by erythroid aplasia and various physical abnormalities. Although accumulating evidence suggests that defective ribosome biogenesis leads to p53-mediated… read more here.
Keywords: physical abnormalities; haploinsufficiency; blackfan anemia; diamond blackfan ... See more keywords
An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.161810
Abstract: 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 signature feature of DBA is hypoplastic anemia occurring in infants, although some older… read more here.
Keywords: blackfan anemia; diamond blackfan; hematopoietic stem; anemia ... See more keywords
Congenital Anemia Due to Erythropoietin Gene Mutation Presenting With Diamond–Blackfan Anemia-like features
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096251385364
Abstract: Diamond–Blackfan anemia (DBA) is an inherited hypoplastic anemia, caused by mutations in ribosomal protein genes. Other mutations such as mutations in the erythropoietin (EPO) gene can lead to DBA-like (DBAL) through impairment of erythropoiesis. We… read more here.
Keywords: gene; diamond blackfan; anemia; blackfan anemia ... See more keywords
A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia
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DOI: 10.1177/2472555218823531
Abstract: Diamond-Blackfan anemia (DBA) is a bone marrow failure syndrome caused by mutations in ribosomal protein genes. Pathogenic mechanisms are poorly understood but involve severely reduced proliferation of erythroid precursors. Because current DBA therapies are ineffective… read more here.
Keywords: screening assay; phenotypic screening; blackfan anemia; diamond blackfan ... See more keywords
A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-110663
Abstract: Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia associated with haploinsufficiency of more than 15 ribosomal protein genes. We identified in the French registry a DBA patient exhibiting a large heterozygous deletion in ribosomal protein… read more here.
Keywords: pre rrna; diamond blackfan; rpsa; blackfan anemia ... See more keywords
Targeting of Calbindin 1 (CALB1) Rescues Erythropoiesis in a Human Model of Diamond Blackfan Anemia: Implications for Novel Therapies
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood-2020-139823
Abstract: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia, congenital anomalies and a predisposition to cancer. The erythroid defects of DBA include macrocytosis, reticulocytopenia, and a selective decrease… read more here.
Keywords: calb1; diamond blackfan; calbindin calb1; model ... See more keywords
Results from the first clinical trial of the selective GlyT1 inhibitor bitopertin for steroid-refractory Diamond-Blackfan Anemia (NCT05828108)
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DOI: 10.1182/blood-2025-4992
Abstract: Background: Diamond-Blackfan Anemia (DBA) is an inherited macrocytic anemia. Despite an initial 80% steroid response rate, approximately 50% of patients require chronic transfusions due to relapsed/refractory disease or steroid intolerance. The primary genetic defect in… read more here.
Keywords: blackfan anemia; diamond blackfan; bitopertin; dba ... See more keywords