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Diamond-Blackfan anemia

Blood, 2020-09, Vol.136 (11), p.1262-1273

2020

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An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia [version 1; peer review: 2 approved]

F1000 research, 2018, Vol.7, p.1350

2018

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Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

Blood reviews, 2013-07, Vol.27 (4), p.167-178

2013

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Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway

PLoS genetics, 2014-05, Vol.10 (5), p.e1004371-e1004371

2014

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Managing the Unusual Causes of Fetal Anemia

Fetal diagnosis and therapy, 2020-02, Vol.47 (2), p.156-164

2020

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Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement

The Lancet. Haematology, 2024-05, Vol.11 (5), p.e368-e382

2024

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Diamond-Blackfan anemia

Hematology, 2021-12, Vol.2021 (1), p.353-360

2021

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Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic condition

Scientific reports, 2019-05, Vol.9 (1), p.6771-6771, Article 6771

2019

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Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes

Experimental hematology, 2014-05, Vol.42 (5), p.394-403.e4

2014

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Mechanical Signature of Red Blood Cells Flowing Out of a Microfluidic Constriction Is Impacted by Membrane Elasticity, Cell Surface-to-Volume Ratio and Diseases

Frontiers in physiology, 2020-06, Vol.11, p.576-576

2020

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Brain injury pathophysiology study by a multimodal approach in children with sickle cell anemia with no intra or extra cranial arteriopathy

Haematologica (Roma), 2022-04, Vol.107 (4), p.958

2022

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Blocking Macrophage Migration Inhibitory Factor Protects Against Cisplatin-Induced Acute Kidney Injury in Mice

Molecular therapy, 2018-10, Vol.26 (10), p.2523-2532

2018

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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

American journal of human genetics, 2010-11, Vol.87 (5), p.721-727

2010

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Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia

Haematologica (Roma), 2021-12, Vol.106 (12), p.3202

2021

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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

Frontiers in physiology, 2021-10, Vol.12, p.745032-745032

2021

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Annals of neurology, 2017-07, Vol.82 (1), p.133-138

2017

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

Blood, 2007-02, Vol.109 (3), p.1275-1283

2007

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Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

American journal of human genetics, 2006-12, Vol.79 (6), p.1110-1118

2006

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GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

Genes, 2022-02, Vol.13 (3), p.447

2022

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Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway

PLoS genetics, 2015-07, Vol.11 (7), p.e1005326-e1005326

2015

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Diamond-Blackfan anemia

An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia [version 1; peer review: 2 approved]

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway

Managing the Unusual Causes of Fetal Anemia

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement

Diamond-Blackfan anemia

Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic condition

Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes

Mechanical Signature of Red Blood Cells Flowing Out of a Microfluidic Constriction Is Impacted by Membrane Elasticity, Cell Surface-to-Volume Ratio and Diseases

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Brain injury pathophysiology study by a multimodal approach in children with sickle cell anemia with no intra or extra cranial arteriopathy

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

Blocking Macrophage Migration Inhibitory Factor Protects Against Cisplatin-Induced Acute Kidney Injury in Mice

The ribosomal basis of diamond-blackfan anemia: mutation and database update

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia

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

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Impaired ribosome biogenesis in Diamond-Blackfan anemia

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway

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