Home / Deep Research / Diamond-Blackfan Anemia

Diamond-Blackfan Anemia

Disease Pathophysiology Research Template

2026-02-15
Falcon MONDO:0015253 Model: Edison Scientific Literature 35 citations

Question: You are an expert researcher providing comprehensive, well-cited information.

Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies

Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.

Disease Pathophysiology Research Template

Target Disease

  • Disease Name: Diamond-Blackfan Anemia
  • MONDO ID: (if available)
  • Category: Mendelian

Research Objectives

Please provide a comprehensive research report on the pathophysiology of Diamond-Blackfan Anemia. Focus on the molecular and cellular mechanisms underlying disease progression.

Required Information

1. Core Pathophysiology

  • What are the primary pathophysiological mechanisms?
  • What molecular pathways are dysregulated?
  • What cellular processes are affected?

2. Key Molecular Players

  • Genes/Proteins: Which genes are causally involved or implicated?
  • Chemical Entities: What metabolites, drugs, or small molecules are relevant?
  • Cell Types: Which cell types are primarily affected?
  • Anatomical Locations: Which tissues/organs are involved?

3. Biological Processes (for GO annotation)

  • What biological processes (GO terms) are disrupted?
  • Consider: signaling pathways, metabolic processes, cellular responses, transport, etc.

4. Cellular Components

  • Where in the cell do key processes occur?
  • Consider: organelles, membrane compartments, extracellular space, etc.

5. Disease Progression

  • What is the sequence of events from initial trigger to clinical manifestation?
  • Are there distinct stages or phases?

6. Phenotypic Manifestations

  • What are the key clinical phenotypes?
  • How do they relate to the underlying mechanisms?

Citation Requirements

  • Cite primary literature (PMID preferred) for all mechanistic claims
  • Prioritize recent reviews and landmark papers
  • Include direct quotes where possible to support key statements

Output Format

Structure your response as a narrative that could be used to populate a disease knowledge base entry with: - Pathophysiology description - Gene/protein annotations with ontology terms (HGNC, GO) - Phenotype associations (HP terms) - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Evidence items with PMIDs

Diamond–Blackfan anemia (DBA) pathophysiology research report (molecular/cellular focus)

0. Disease identifiers and scope

1. Key concepts, definitions, and current understanding (2023–2024)

1.1 Core definition (hematologic phenotype)

DBA is a congenital bone marrow failure disorder with selective erythroid hypoplasia and typically macrocytic, reticulocytopenic anemia. The 2024 international consensus defines DBA diagnosis by either (i) a pathogenic/likely pathogenic variant in a DBA gene or (ii) compatible hematologic findings including “macrocytic anemia… with reticulocytopenia and BM erythroblastopenia; absence of dysplasia, dyserythropoiesis, and sideroblasts” plus exclusion of differential diagnoses. (wlodarski2024diagnosistreatmentand pages 20-23)

1.2 DBA as a “ribosomopathy”

DBA is considered a prototypic ribosomopathy, usually caused by heterozygous RP gene variants that impair ribosome biogenesis (rRNA processing/maturation and/or subunit assembly). A 2024 review notes: “Around 75% of cases of DBA are related to a heterozygous allelic variation in ribosomal protein (RP) genes” and “mutations in 23 RP genes have been identified.” (liu2024perspectivesofcurrent pages 1-2)

1.3 Multi-hit molecular pathophysiology model

Current syntheses emphasize that impaired erythropoiesis results from several interacting stress programs downstream of RP haploinsufficiency, including p53 activation, translational dysfunction, inflammation, globin/heme imbalance with ROS, and autophagy/mitochondrial/metabolic perturbations. (liu2024perspectivesofcurrent pages 1-2, liu2024perspectivesofcurrent pages 3-4, pelagiadis2023thediversegenomic pages 5-8)

2. Core pathophysiology (molecular pathways and cellular processes)

2.1 Primary lesion: impaired ribosome biogenesis and rRNA processing

Mechanism. Pathogenic RP variants reduce effective ribosome production (“ribosomal insufficiency”), causing pre-rRNA processing defects and altered ribosomal subunit maturation. (liu2024perspectivesofcurrent pages 1-2, pelagiadis2023thediversegenomic pages 1-2)

Recent mechanistic example (2024, RPL17). In DBA pedigrees with RPL17 variants, patient-derived lines showed rRNA maturation defects and atypical large subunits: “5.8SC consisted of 8% to 21% of 5.8S rRNAs in affected case-derived cells,” and 10–20% of 60S subunits carried this short 5.8S rRNA species yet remained translationally active. (fellmann2024anatypicalform pages 1-2, fellmann2024anatypicalform pages 6-9)

Pathway-level consequence. Reduced ribosome output acts as a bottleneck for high-demand erythroid differentiation, driving lineage-selective failure of erythroid progenitors/precursors. (liu2024perspectivesofcurrent pages 1-2, fellmann2024anatypicalform pages 1-2)

2.2 Ribosomal/nucleolar stress → MDM2 inhibition → p53 stabilization

A central model is that disrupted ribosome biogenesis triggers nucleolar stress, leading to p53 stabilization (classically via RP/5S RNP interactions with MDM2). The 2023 mini-review summarizes defective rRNA maturation provoking nucleolar stress and p53 stabilization/activation, causing erythroid-specific arrest/apoptosis. (pelagiadis2023thediversegenomic pages 1-2)

The RPL17 JCI Insight paper situates its findings in the broader DBA framework whereby defective biogenesis leads to free 5S RNP binding and deactivation of HDM2/MDM2, stabilizing p53 and contributing to progenitor proliferation arrest and anemia. (fellmann2024anatypicalform pages 1-2)

2.3 Translational dysfunction and erythroid selectivity (GATA1 as a key node)

Beyond a modest global translation reduction, DBA exhibits selective translational vulnerability of key erythroid regulators. - A 2023 mini-review states: “Haploinsufficiency in RPs results in an impaired translation of GATA1 mRNA.” (pelagiadis2023thediversegenomic pages 5-8) - A 2024 review explains that GATA1 can be reduced via splice-site mutations and also by poor translation attributable to a structured 5′UTR, linking ribosome shortage to erythroid-specific defects. (liu2024perspectivesofcurrent pages 3-4)

2.4 Imbalanced globin/heme synthesis, oxidative stress, and apoptosis

Multiple sources converge on a model in which RP/GATA1 perturbations dysregulate globin–heme coordination, leading to free heme toxicity and ROS. - The 2023 review links reduced GATA1/RP deficiency to globin–heme imbalance and “accumulation of free cytoplasmic heme in erythroid progenitors, increasing the p53-dependent apoptosis” underlying erythroid failure. (pelagiadis2023thediversegenomic pages 5-8) - Additional supportive framing includes ROS contribution to defective erythropoiesis. (pelagiadis2023thediversegenomic pages 1-2)

2.5 Inflammatory signaling as a modifier/amplifier

A 2024 Leukemia review notes elevated inflammatory cytokines (e.g., IFN-γ, TNF-α) and enrichment of TNFα/NF-κB signatures (e.g., in RPS19-deficient CD34+ cells), consistent with inflammation contributing to marrow suppression and erythroid failure. (liu2024perspectivesofcurrent pages 3-4)

2.6 Autophagy/mitophagy and mitochondrial/metabolic mechanisms (rapidly developing area, 2024)

Two 2024 primary studies highlight mitochondrial control points that may interact with ribosome biogenesis and translation:

(i) OXPHOS → ribosome biogenesis coupling (iScience, Mar 2024). OXPHOS suppression in a primary HSPC-to-erythroid model caused erythroid differentiation failure and ribosome biogenesis defects; RanGAP1 was identified as an OXPHOS-dependent mediator and coenzyme Q10 (CoQ10) activation of OXPHOS rescued erythroid defects. Patient data suggested OXPHOS suppression with reduced ribosome biogenesis and that OXPHOS gene mutations (~10%) might contribute. (xiao2024disruptionofmitochondrial pages 1-2)

(ii) NLK–mTORC1–mitochondrial biogenesis axis (JBC, Aug 2024). In erythroid progenitors from DBA patients, NLK is “hyperactivated” and suppresses mTORC1 via Raptor phosphorylation. The authors state: “NLK-mediated phosphorylation of Raptor suppresses mTORC1 activity” and “Phosphorylation of Raptor at S863 prevents mTORC1 from localizing to the outer lysosomal membrane where the complex is activated by Rheb.” This suppresses translation of mitochondrial biogenesis factors and impairs early erythropoiesis. (wilkes2024activationofnemolike pages 1-2)

3. Key molecular players (genes/proteins), chemical entities, cell types, and anatomic sites

3.1 Causal/implicated genes (HGNC symbols) and roles

Major RP genes (examples; not exhaustive): - RPS19 (most frequent; commonly cited ~25% of cases). (liu2024perspectivesofcurrent pages 1-2, gimenez2024lentivirusmediatedgenetherapy pages 1-2) - RPL5, RPL11, RPS26, RPS24 (frequent; linked to congenital anomalies and other genotype–phenotype differences). (liu2024perspectivesofcurrent pages 1-2, liu2024perspectivesofcurrent pages 2-3) - RPL17 (2024: causes atypical 60S/5.8S rRNA phenotype). (fellmann2024anatypicalform pages 1-2, fellmann2024anatypicalform pages 6-9)

Non-RP DBA/DBA-like genes discussed in recent synthesis: - GATA1 (erythroid TF; splice mutations and translation sensitivity). (liu2024perspectivesofcurrent pages 1-2, liu2024perspectivesofcurrent pages 3-4) - TSR2 (RPS26 chaperone; X-linked DBA-like). (liu2024perspectivesofcurrent pages 3-4, pelagiadis2023thediversegenomic pages 1-2) - HEATR3 (ribosome biogenesis factor; variants can reduce nuclear uL18/RPL5 and impair ribosome biogenesis, described as potentially p53-independent in parts of the pathway). (liu2024perspectivesofcurrent pages 3-4) - EPO (rare recessive DBA-like; altered receptor affinity described in review). (liu2024perspectivesofcurrent pages 3-4) - CECR1 / ADA2 (DBA-like; clinically relevant as HSCT may be effective). (pelagiadis2023thediversegenomic pages 5-8) - TP53 gain-of-function (rare DBA-like phenotypes discussed in consensus context). (wlodarski2024diagnosistreatmentand pages 16-18, wlodarski2024diagnosistreatmentand pages 3-5)

3.2 Key pathways (GO-style biological process labels)

Ontology-ready GO biological process descriptors supported by the cited evidence include: - Ribosome biogenesis / ribosomal large/small subunit assembly / rRNA processing (including pre-rRNA cleavage steps). (liu2024perspectivesofcurrent pages 1-2, fellmann2024anatypicalform pages 6-9) - Nucleolar stress response leading to p53-mediated apoptotic signaling and cell cycle arrest. (pelagiadis2023thediversegenomic pages 1-2, fellmann2024anatypicalform pages 1-2) - Regulation of translation (global and selective translation; GATA1 sensitivity). (liu2024perspectivesofcurrent pages 3-4, pelagiadis2023thediversegenomic pages 5-8) - Erythrocyte differentiation / erythropoiesis (failure of progenitor expansion/maturation). (liu2024perspectivesofcurrent pages 1-2, wu2024brafinhibitorsenhance pages 1-2) - Response to oxidative stress and heme metabolic process (free heme → ROS → apoptosis model). (pelagiadis2023thediversegenomic pages 5-8) - Inflammatory response / NF-κB signaling / TNF signaling (as modifiers). (liu2024perspectivesofcurrent pages 3-4) - Mitochondrial biogenesis and oxidative phosphorylation as modulators of erythroid commitment and ribosome output. (xiao2024disruptionofmitochondrial pages 1-2, wilkes2024activationofnemolike pages 1-2)

3.3 Cellular components (GO cellular component labels)

Ontology-ready cellular component descriptors include: - Nucleolus (site of rRNA transcription/processing and early ribosome biogenesis; nucleolar stress trigger). (pelagiadis2023thediversegenomic pages 1-2, fellmann2024anatypicalform pages 6-9) - Ribosome (40S/60S subunits; atypical 60S with altered 5.8S rRNA in RPL17 DBA). (fellmann2024anatypicalform pages 1-2) - Cytosol (translation; globin/heme imbalance effects). (pelagiadis2023thediversegenomic pages 5-8) - Mitochondrion (OXPHOS; mitochondrial biogenesis/mitophagy programs affecting erythropoiesis). (xiao2024disruptionofmitochondrial pages 1-2, wilkes2024activationofnemolike pages 1-2) - Lysosomal membrane (mTORC1 activation platform; Raptor phosphorylation affecting localization). (wilkes2024activationofnemolike pages 1-2)

3.4 Key cell types (CL-style)

Primary affected hematopoietic populations include: - Hematopoietic stem and progenitor cells (HSPCs) and early erythroid progenitors. (xiao2024disruptionofmitochondrial pages 1-2, wu2024brafinhibitorsenhance pages 1-2) - Erythroid progenitors/precursors (reduced in marrow; early erythropoiesis block). (liu2024perspectivesofcurrent pages 1-2, wlodarski2024diagnosistreatmentand pages 20-23)

3.5 Anatomical locations (UBERON-style)

3.6 Chemical entities (CHEBI-style)

4. Disease progression model (sequence of events)

A knowledge-base-ready sequence supported by 2023–2024 evidence: 1. Germline RP haploinsufficiency (or specific non-RP gene defects) reduces effective ribosome biogenesis and/or alters rRNA processing and ribosome output. (liu2024perspectivesofcurrent pages 1-2, pelagiadis2023thediversegenomic pages 1-2, fellmann2024anatypicalform pages 6-9) 2. Ribosomal/nucleolar stress activates p53 programs via MDM2 inhibition (canonical model), promoting progenitor cell cycle arrest/apoptosis. (pelagiadis2023thediversegenomic pages 1-2, fellmann2024anatypicalform pages 1-2) 3. Selective translational insufficiency reduces key erythroid regulators such as GATA1, compromising erythroid lineage specification and maturation. (pelagiadis2023thediversegenomic pages 5-8, liu2024perspectivesofcurrent pages 3-4) 4. Downstream metabolic and proteostatic stress emerges, including globin/heme imbalance (free heme → ROS) and potentially autophagy/mitochondrial dysfunction. (pelagiadis2023thediversegenomic pages 5-8, liu2024perspectivesofcurrent pages 3-4) 5. Failure of early erythropoiesis manifests as marrow erythroid hypoplasia/erythroblastopenia and reticulocytopenic anemia, with variable congenital anomalies and cancer predisposition. (wlodarski2024diagnosistreatmentand pages 20-23, liu2024perspectivesofcurrent pages 1-2)

5. Phenotypic manifestations and mechanistic links (HP-style)

Common/important clinical phenotypes and their mechanistic relationships: - Macrocytic anemia and reticulocytopenia: direct consequence of erythroid progenitor depletion and maturation failure. (wlodarski2024diagnosistreatmentand pages 20-23) - Bone marrow erythroblastopenia: defining tissue phenotype consistent with early erythroid block. (wlodarski2024diagnosistreatmentand pages 20-23) - Congenital anomalies (subset): genotype–phenotype correlations show higher malformation rates with some large subunit genes (e.g., RPL5/RPL11) than with RPS19 in recent review synthesis. (liu2024perspectivesofcurrent pages 2-3) - Cancer predisposition (MDS/AML and solid tumors including colon cancer): increased risk is recognized and drives lifelong surveillance recommendations. (liu2024perspectivesofcurrent pages 1-2, pelagiadis2023thediversegenomic pages 1-2, wlodarski2024diagnosistreatmentand pages 3-5)

6. Recent developments (2023–2024) and latest research highlights

6.1 Ribosome structural/processing diversity in DBA (2024)

RPL17 DBA can yield an atypical translated ribosome pool with altered 5.8S rRNA length and measurable pre-rRNA processing changes, reinforcing that DBA can involve both quantity (ribosome abundance) and qualitative rRNA processing perturbations. (fellmann2024anatypicalform pages 1-2, fellmann2024anatypicalform pages 6-9)

6.2 Mitochondrial energy metabolism as a mechanistic contributor and potential target (2024)

A primary mechanistic proposal is that OXPHOS suppression can impair ribosome biogenesis and erythroid differentiation, with RanGAP1 as a mediator and CoQ10 as a rescuing intervention in model systems; patient transcriptomics suggest an OXPHOS-gene mutation signal (~10%). (xiao2024disruptionofmitochondrial pages 1-2)

6.3 Kinase signaling control of mitochondrial biogenesis in DBA (2024)

NLK hyperactivation suppresses mTORC1 and blocks translation of mitochondrial biogenesis factors (e.g., TFAM, PHB2 protein upregulation is translation-controlled), connecting ribosome insufficiency to a specific kinase→mTORC1→mitochondrial biogenesis bottleneck in early erythropoiesis. (wilkes2024activationofnemolike pages 1-2)

6.4 Small-molecule pathway modulation: paradoxical MAPK activation by BRAF inhibitors (2024)

A 2024 Signal Transduction and Targeted Therapy study reported that BRAF inhibitors can act as MAPK “amplifiers” in WT BRAF contexts, boosting progenitor proliferation; “overall cell numbers [increased] by nearly 10-fold” in culture and activity was observed in DBA patient samples and an Rpl11 haploinsufficiency DBA model. (wu2024brafinhibitorsenhance pages 1-2)

6.5 Gene therapy trajectory (2024)

Lentiviral gene addition remains a leading experimental curative approach for RPS19-deficient DBA: - A 2024 JCI Insight paper developed clinically applicable vectors (PGK.CoRPS19, EF1α.CoRPS19) and reported restoration of erythroid differentiation in patient CD34+ cells plus long-term repopulating properties and non-toxic insertion-site/safety profiles. (gimenez2024lentivirusmediatedgenetherapy pages 1-2) - A 2024 Cells review summarizes preclinical evidence that enforced RPS19 expression can “cure” anemia and prevent lethal marrow failure in mouse models and supports the rationale for autologous gene therapy to circumvent donor limitations of allogeneic HSCT. (vale2024towardsacure pages 4-6)

7. Current applications and real-world implementations (clinical practice)

7.1 Diagnostic implementation (2024 consensus)

Practical diagnostic approach includes genetic confirmation or classic hematology/BM findings with exclusion of mimics (TEC, viral PRCA, MDS with 5q-, other inherited bone marrow failure syndromes, Pearson syndrome, congenital sideroblastic/dyserythropoietic anemias). (wlodarski2024diagnosistreatmentand pages 20-23)

7.2 First-line therapy: corticosteroids

The 2024 international consensus provides specific implementation details: - Initial prednisone/prednisolone: 2 mg/kg/day (with max limits) and avoid extending the initial high-dose course beyond ~4 weeks; assess reticulocyte/Hb response at ~10–14 days. (wlodarski2024diagnosistreatmentand pages 8-10) - Initial steroid response rate ~60–80%; ~30–40% remain on durable steroid therapy. (wlodarski2024diagnosistreatmentand pages 8-10)

7.3 Chronic transfusion strategy and iron overload management

The 2024 consensus recommends higher transfusion targets than restrictive adult triggers: maintain pre-transfusion nadir ≥9–10 g/dL to support growth and quality of life, often using q3-week schedules. (wlodarski2024diagnosistreatmentand pages 8-10)

Because transfusions are the major iron source and iron overload is a major cause of death in non-transplanted patients, the consensus emphasizes MRI-based monitoring and quantitative targets/thresholds (e.g., LIC goal <3 mg Fe/g dry weight; cardiac T2* thresholds). (wlodarski2024diagnosistreatmentand pages 10-11)

7.4 Curative therapy: HSCT (and movement toward gene therapy)

7.5 Clinical trials and experimental therapeutics (implementation evidence)

L-leucine (ClinicalTrials.gov). NCT01362595 (Northwell Health) is a single-group, open-label Phase I/II trial in transfusion-dependent DBA. Dose: 700 mg/m² per dose, orally three times daily; primary efficacy endpoint at 9 months; enrollment 55; results posted 2022-12-02. (NCT01362595 chunk 1)

8. Expert opinions and authoritative analyses (2024 consensus and high-impact reviews)

  • The 2024 Lancet Haematology consensus explicitly states that the evidence base is largely non-randomized (“level C”) and therefore provides expert-derived implementation thresholds (transfusion Hb targets, steroid dose ceilings, iron MRI targets, and systematic surveillance including early colorectal cancer screening). (wlodarski2024diagnosistreatmentand pages 3-5)
  • The 2024 Leukemia review frames DBA as a multi-mechanism disorder and highlights emerging therapeutics (notably gene therapy for RPS19) while emphasizing unresolved questions such as erythroid lineage selectivity and variable penetrance/remission. (liu2024perspectivesofcurrent pages 1-2)

9. Relevant recent statistics and data (2023–2024)

9.1 Epidemiology

9.2 Genetics (frequency highlights)

9.3 Biomarkers and genotype–phenotype

9.4 Treatment outcomes

9.5 Malignancy risk

10. Knowledge-base-ready annotation blocks

10.1 Gene/protein annotations (HGNC symbols) with mechanistic tags

10.2 GO biological process candidates (text labels)

10.3 CL cell type candidates (text labels)

10.4 UBERON anatomy candidates (text labels)

10.5 HP phenotype candidates (text labels)

10.6 CHEBI chemical candidates (text labels)

11. Evidence items (PMID-focused) and limitations

The provided 2023–2024 evidence extracts are primarily from full-text/registry materials indexed by DOI and trial identifiers, and many excerpts did not include PubMed IDs in the available text. Where PMIDs are required for mechanistic claims, additional targeted PubMed retrieval would be needed to map each mechanistic statement to a PMID explicitly (particularly for classic p53/MDM2/5S-RNP literature). Within the available context, mechanistic claims are supported by peer-reviewed primary papers and consensus/reviews with DOI/URLs (listed above) and ClinicalTrials.gov identifiers. (wlodarski2024diagnosistreatmentand pages 3-5, fellmann2024anatypicalform pages 1-2, xiao2024disruptionofmitochondrial pages 1-2, wilkes2024activationofnemolike pages 1-2, NCT01362595 chunk 1)

12. Key source list (URLs and publication dates)

References

  1. (wlodarski2024diagnosistreatmentand pages 3-5): Marcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, Lydie M Da Costa, Antonis Kattamis, Irma Dianzani, Cristina Belendez, Sule Unal, Hannah Tamary, Ramune Pasauliene, Dagmar Pospisilova, Josu de la Fuente, Deena Iskander, Lawrence Wolfe, Johnson M Liu, Akiko Shimamura, Katarzyna Albrecht, Birgitte Lausen, Anne Grete Bechensteen, Ulf Tedgard, Alexander Puzik, Paola Quarello, Ugo Ramenghi, Marije Bartels, Heinz Hengartner, Roula A Farah, Mahasen Al Saleh, Amir Ali Hamidieh, Wan Yang, Etsuro Ito, Hoon Kook, Galina Ovsyannikova, Leo Kager, Pierre-Emmanuel Gleizes, Jean-Hugues Dalle, Brigitte Strahm, Charlotte M Niemeyer, Jeffrey M Lipton, and Thierry M Leblanc. Diagnosis, treatment, and surveillance of diamond-blackfan anaemia syndrome: international consensus statement. The Lancet. Haematology, 11 5:e368-e382, May 2024. URL: https://doi.org/10.1016/s2352-3026(24)00063-2, doi:10.1016/s2352-3026(24)00063-2. This article has 48 citations.

  2. (liu2024perspectivesofcurrent pages 3-4): Yang Liu and Stefan Karlsson. Perspectives of current understanding and therapeutics of diamond-blackfan anemia. Leukemia, 38:1-9, Nov 2024. URL: https://doi.org/10.1038/s41375-023-02082-w, doi:10.1038/s41375-023-02082-w. This article has 52 citations and is from a highest quality peer-reviewed journal.

  3. (liu2024perspectivesofcurrent pages 1-2): Yang Liu and Stefan Karlsson. Perspectives of current understanding and therapeutics of diamond-blackfan anemia. Leukemia, 38:1-9, Nov 2024. URL: https://doi.org/10.1038/s41375-023-02082-w, doi:10.1038/s41375-023-02082-w. This article has 52 citations and is from a highest quality peer-reviewed journal.

  4. (pelagiadis2023thediversegenomic pages 1-2): Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, and Eftichia Stiakaki. The diverse genomic landscape of diamond–blackfan anemia: two novel variants and a mini-review. Children, 10:1812, Nov 2023. URL: https://doi.org/10.3390/children10111812, doi:10.3390/children10111812. This article has 4 citations.

  5. (wlodarski2024diagnosistreatmentand pages 20-23): Marcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, Lydie M Da Costa, Antonis Kattamis, Irma Dianzani, Cristina Belendez, Sule Unal, Hannah Tamary, Ramune Pasauliene, Dagmar Pospisilova, Josu de la Fuente, Deena Iskander, Lawrence Wolfe, Johnson M Liu, Akiko Shimamura, Katarzyna Albrecht, Birgitte Lausen, Anne Grete Bechensteen, Ulf Tedgard, Alexander Puzik, Paola Quarello, Ugo Ramenghi, Marije Bartels, Heinz Hengartner, Roula A Farah, Mahasen Al Saleh, Amir Ali Hamidieh, Wan Yang, Etsuro Ito, Hoon Kook, Galina Ovsyannikova, Leo Kager, Pierre-Emmanuel Gleizes, Jean-Hugues Dalle, Brigitte Strahm, Charlotte M Niemeyer, Jeffrey M Lipton, and Thierry M Leblanc. Diagnosis, treatment, and surveillance of diamond-blackfan anaemia syndrome: international consensus statement. The Lancet. Haematology, 11 5:e368-e382, May 2024. URL: https://doi.org/10.1016/s2352-3026(24)00063-2, doi:10.1016/s2352-3026(24)00063-2. This article has 48 citations.

  6. (pelagiadis2023thediversegenomic pages 5-8): Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, and Eftichia Stiakaki. The diverse genomic landscape of diamond–blackfan anemia: two novel variants and a mini-review. Children, 10:1812, Nov 2023. URL: https://doi.org/10.3390/children10111812, doi:10.3390/children10111812. This article has 4 citations.

  7. (fellmann2024anatypicalform pages 1-2): Florence Fellmann, Carol Saunders, Marie-Françoise O’Donohue, David W. Reid, Kelsey A. McFadden, Nathalie Montel-Lehry, Cong Yu, Mingyan Fang, Jianguo Zhang, Beryl Royer-Bertrand, Pietro Farinelli, Narjesse Karboul, Jason R. Willer, Lorraine Fievet, Zahurul Alam Bhuiyan, Alissa L.W. Kleinhenz, Julie Jadeau, Joy Fulbright, Carlo Rivolta, Raffaele Renella, Nicholas Katsanis, Jacques S. Beckmann, Christopher V. Nicchitta, Lydie Da Costa, Erica E. Davis, and Pierre-Emmanuel Gleizes. An atypical form of 60s ribosomal subunit in diamond-blackfan anemia linked to rpl17 variants. JCI Insight, Aug 2024. URL: https://doi.org/10.1172/jci.insight.172475, doi:10.1172/jci.insight.172475. This article has 2 citations and is from a domain leading peer-reviewed journal.

  8. (fellmann2024anatypicalform pages 6-9): Florence Fellmann, Carol Saunders, Marie-Françoise O’Donohue, David W. Reid, Kelsey A. McFadden, Nathalie Montel-Lehry, Cong Yu, Mingyan Fang, Jianguo Zhang, Beryl Royer-Bertrand, Pietro Farinelli, Narjesse Karboul, Jason R. Willer, Lorraine Fievet, Zahurul Alam Bhuiyan, Alissa L.W. Kleinhenz, Julie Jadeau, Joy Fulbright, Carlo Rivolta, Raffaele Renella, Nicholas Katsanis, Jacques S. Beckmann, Christopher V. Nicchitta, Lydie Da Costa, Erica E. Davis, and Pierre-Emmanuel Gleizes. An atypical form of 60s ribosomal subunit in diamond-blackfan anemia linked to rpl17 variants. JCI Insight, Aug 2024. URL: https://doi.org/10.1172/jci.insight.172475, doi:10.1172/jci.insight.172475. This article has 2 citations and is from a domain leading peer-reviewed journal.

  9. (xiao2024disruptionofmitochondrial pages 1-2): Rudan Xiao, Lijuan Zhang, Zijuan Xin, Junwei Zhu, Qian Zhang, Guangmin Zheng, Siyun Chu, Jing Wu, Lu Zhang, Yang Wan, Xiaojuan Chen, Weiping Yuan, Zhaojun Zhang, Xiaofan Zhu, and Xiangdong Fang. Disruption of mitochondrial energy metabolism is a putative pathogenesis of diamond-blackfan anemia. iScience, 27:109172, Mar 2024. URL: https://doi.org/10.1016/j.isci.2024.109172, doi:10.1016/j.isci.2024.109172. This article has 5 citations and is from a peer-reviewed journal.

  10. (wilkes2024activationofnemolike pages 1-2): Mark C. Wilkes, Aya Shibuya, Y. Lucy Liu, Kailen Mark, Jaqueline Mercado, Mallika Saxena, Ryan S. Sathianathen, Hye Na Kim, Bertil Glader, Paraic Kenny, and Kathleen M. Sakamoto. Activation of nemo-like kinase in diamond blackfan anemia suppresses early erythropoiesis by preventing mitochondrial biogenesis. Journal of Biological Chemistry, 300:107542, Aug 2024. URL: https://doi.org/10.1016/j.jbc.2024.107542, doi:10.1016/j.jbc.2024.107542. This article has 3 citations and is from a domain leading peer-reviewed journal.

  11. (gimenez2024lentivirusmediatedgenetherapy pages 1-2): Yari Giménez, Manuel Palacios, Rebeca Sánchez-Domínguez, Christiane Zorbas, Jorge Peral, Alexander Puzik, Laura Ugalde, Omaira Alberquilla, Mariela Villanueva, Paula Río, Eva Gálvez, Lydie Da Costa, Marion Strullu, Albert Catala, Anna Ruiz-Llobet, Jose Carlos Segovia, Julián Sevilla, Brigitte Strahm, Charlotte M. Niemeyer, Cristina Beléndez, Thierry Leblanc, Denis L.J. Lafontaine, Juan Bueren, and Susana Navarro. Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for diamond blackfan anemia. JCI Insight, May 2024. URL: https://doi.org/10.1172/jci.insight.171650, doi:10.1172/jci.insight.171650. This article has 10 citations and is from a domain leading peer-reviewed journal.

  12. (liu2024perspectivesofcurrent pages 2-3): Yang Liu and Stefan Karlsson. Perspectives of current understanding and therapeutics of diamond-blackfan anemia. Leukemia, 38:1-9, Nov 2024. URL: https://doi.org/10.1038/s41375-023-02082-w, doi:10.1038/s41375-023-02082-w. This article has 52 citations and is from a highest quality peer-reviewed journal.

  13. (wlodarski2024diagnosistreatmentand pages 16-18): Marcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, Lydie M Da Costa, Antonis Kattamis, Irma Dianzani, Cristina Belendez, Sule Unal, Hannah Tamary, Ramune Pasauliene, Dagmar Pospisilova, Josu de la Fuente, Deena Iskander, Lawrence Wolfe, Johnson M Liu, Akiko Shimamura, Katarzyna Albrecht, Birgitte Lausen, Anne Grete Bechensteen, Ulf Tedgard, Alexander Puzik, Paola Quarello, Ugo Ramenghi, Marije Bartels, Heinz Hengartner, Roula A Farah, Mahasen Al Saleh, Amir Ali Hamidieh, Wan Yang, Etsuro Ito, Hoon Kook, Galina Ovsyannikova, Leo Kager, Pierre-Emmanuel Gleizes, Jean-Hugues Dalle, Brigitte Strahm, Charlotte M Niemeyer, Jeffrey M Lipton, and Thierry M Leblanc. Diagnosis, treatment, and surveillance of diamond-blackfan anaemia syndrome: international consensus statement. The Lancet. Haematology, 11 5:e368-e382, May 2024. URL: https://doi.org/10.1016/s2352-3026(24)00063-2, doi:10.1016/s2352-3026(24)00063-2. This article has 48 citations.

  14. (wu2024brafinhibitorsenhance pages 1-2): Shunkang Wu, Yuelin Deng, Haobo Sun, Xuewen Liu, Shuo Zhou, Hanxi Zhao, Huan Li, Fusheng Guo, Qiuyu Yue, Fan Wu, Xinying Zhao, Na Li, Shicong Zhu, Qi Hu, Si Xie, Jie Zheng, Meng Lv, Yuan Kong, Xiao-Jun Huang, Xiaoguang Lei, Xiangmin Tong, Xiaofei Gao, and Hsiang-Ying Lee. Braf inhibitors enhance erythropoiesis and treat anemia through paradoxical activation of mapk signaling. Signal Transduction and Targeted Therapy, Dec 2024. URL: https://doi.org/10.1038/s41392-024-02033-6, doi:10.1038/s41392-024-02033-6. This article has 6 citations and is from a peer-reviewed journal.

  15. (NCT01362595 chunk 1): Adrianna Vlachos, MD. Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia. Northwell Health. 2013. ClinicalTrials.gov Identifier: NCT01362595

  16. (wlodarski2024diagnosistreatmentand pages 8-10): Marcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, Lydie M Da Costa, Antonis Kattamis, Irma Dianzani, Cristina Belendez, Sule Unal, Hannah Tamary, Ramune Pasauliene, Dagmar Pospisilova, Josu de la Fuente, Deena Iskander, Lawrence Wolfe, Johnson M Liu, Akiko Shimamura, Katarzyna Albrecht, Birgitte Lausen, Anne Grete Bechensteen, Ulf Tedgard, Alexander Puzik, Paola Quarello, Ugo Ramenghi, Marije Bartels, Heinz Hengartner, Roula A Farah, Mahasen Al Saleh, Amir Ali Hamidieh, Wan Yang, Etsuro Ito, Hoon Kook, Galina Ovsyannikova, Leo Kager, Pierre-Emmanuel Gleizes, Jean-Hugues Dalle, Brigitte Strahm, Charlotte M Niemeyer, Jeffrey M Lipton, and Thierry M Leblanc. Diagnosis, treatment, and surveillance of diamond-blackfan anaemia syndrome: international consensus statement. The Lancet. Haematology, 11 5:e368-e382, May 2024. URL: https://doi.org/10.1016/s2352-3026(24)00063-2, doi:10.1016/s2352-3026(24)00063-2. This article has 48 citations.

  17. (wlodarski2024diagnosistreatmentand pages 10-11): Marcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, Lydie M Da Costa, Antonis Kattamis, Irma Dianzani, Cristina Belendez, Sule Unal, Hannah Tamary, Ramune Pasauliene, Dagmar Pospisilova, Josu de la Fuente, Deena Iskander, Lawrence Wolfe, Johnson M Liu, Akiko Shimamura, Katarzyna Albrecht, Birgitte Lausen, Anne Grete Bechensteen, Ulf Tedgard, Alexander Puzik, Paola Quarello, Ugo Ramenghi, Marije Bartels, Heinz Hengartner, Roula A Farah, Mahasen Al Saleh, Amir Ali Hamidieh, Wan Yang, Etsuro Ito, Hoon Kook, Galina Ovsyannikova, Leo Kager, Pierre-Emmanuel Gleizes, Jean-Hugues Dalle, Brigitte Strahm, Charlotte M Niemeyer, Jeffrey M Lipton, and Thierry M Leblanc. Diagnosis, treatment, and surveillance of diamond-blackfan anaemia syndrome: international consensus statement. The Lancet. Haematology, 11 5:e368-e382, May 2024. URL: https://doi.org/10.1016/s2352-3026(24)00063-2, doi:10.1016/s2352-3026(24)00063-2. This article has 48 citations.

  18. (vale2024towardsacure pages 4-6): Matilde Vale, Jan Prochazka, and Radislav Sedlacek. Towards a cure for diamond–blackfan anemia: views on gene therapy. Cells, 13:920, May 2024. URL: https://doi.org/10.3390/cells13110920, doi:10.3390/cells13110920. This article has 8 citations.