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Nucleolar stress in Diamond Blackfan anemia pathophysiology

Biochimica et biophysica acta, 2014-06, Vol.1842 (6), p.765-768

Ellis, Steven R.

2014

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Identification of RPS14 as a 5q - syndrome gene by RNA interference screen

Nature (London), 2008-01, Vol.451 (7176), p.335-339

2008

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Rare ribosomopathies: insights into mechanisms of cancer

Nature reviews. Cancer, 2019-04, Vol.19 (4), p.228-238

2019

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Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis

Hematology/oncology clinics of North America, 2009-04, Vol.23 (2), p.261-282

2009

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Ribosomal protein gene deletions in Diamond-Blackfan anemia

Blood, 2011-12, Vol.118 (26), p.6943-6951

2011

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Ribosomes and marrow failure: coincidental association or molecular paradigm?

Blood, 2006-06, Vol.107 (12), p.4583-4588

2006

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

Pediatric blood & cancer, 2014-07, Vol.61 (7), p.1319-1321

2014

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Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Blood, 2014-07, Vol.124 (1), p.24-32

2014

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The Sua5 Protein Is Essential for Normal Translational Regulation in Yeast

Molecular and Cellular Biology, 2010-01, Vol.30 (1), p.354-363

2010

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Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Blood, 2007-02, Vol.109 (3), p.980-986

2007

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Molecular convergence in ex vivo models of Diamond-Blackfan anemia

Blood, 2017-06, Vol.129 (23), p.3111-3120

2017

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

Frontiers in genetics, 2022-12, Vol.13, p.1045236-1045236

2022

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Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia

Genes, 2021-12, Vol.13 (1), p.56

2021

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p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5

PloS one, 2014-02, Vol.9 (2), p.e89098-e89098

2014

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Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

American journal of hematology, 2014-10, Vol.89 (10), p.985-991

2014

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Bmi1 Promotes Erythroid Development Through Regulating Ribosome Biogenesis

Stem cells (Dayton, Ohio), 2015-03, Vol.33 (3), p.925-938

2015

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Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Gene, 2014-07, Vol.545 (2), p.282-289

2014

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

JCI insight, 2023-01, Vol.8 (1)

2023

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Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome

PloS one, 2013-07, Vol.8 (7), p.e68045-e68045

2013

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A new system for naming ribosomal proteins

Current opinion in structural biology, 2014-02, Vol.24, p.165-169

2014

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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

Journal of medical genetics, 2017-06, Vol.54 (6), p.417-425

2017

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Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome

Haematologica (Roma), 2010-01, Vol.95 (1), p.57-64

2010

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Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS

Pediatric blood & cancer, 2013-02, Vol.60 (2), p.281-286

2013

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Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations

EMBO molecular medicine, 2017-04, Vol.9 (4), p.498-507

2017

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Nucleolar stress in Diamond Blackfan anemia pathophysiology

Identification of RPS14 as a 5q - syndrome gene by RNA interference screen

Rare ribosomopathies: insights into mechanisms of cancer

Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis

Ribosomal protein gene deletions in Diamond-Blackfan anemia

Ribosomes and marrow failure: coincidental association or molecular paradigm?

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

The Sua5 Protein Is Essential for Normal Translational Regulation in Yeast

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

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

Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia

p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5

Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

Bmi1 Promotes Erythroid Development Through Regulating Ribosome Biogenesis

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

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

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome

A new system for naming ribosomal proteins

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome

Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS

Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations

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