(Q37087644)

18 August 2017

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title

Diamond Blackfan anemia: a disorder of red blood cell development (English)

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18 August 2017

Steven R Ellis

1

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18 August 2017

Jeffrey M Lipton

series ordinal

2

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18 August 2017

publication date

1 January 2008

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Current Topics in Developmental Biology

18 August 2017

published in

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18 August 2017

volume

82

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18 August 2017

page(s)

217-241

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Congenital anemia and triphalangeal thumbs: A new syndrome

18 August 2017

cites work

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7 January 2021

Bone marrow transplant in Diamond-Blackfan anemia

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7 January 2021

Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia

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7 January 2021

Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome

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7 January 2021

Many ribosomal protein genes are cancer genes in zebrafish

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7 January 2021

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

The Shwachman-Diamond SBDS protein localizes to the nucleolus

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7 January 2021

Diamond-Blackfan syndrome in adult patients

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7 January 2021

Identification of proteins of the 40 S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies

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7 January 2021

N-myc enhances the expression of a large set of genes functioning in ribosome biogenesis and protein synthesis

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7 January 2021

Erythrogenesis imperfecta

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7 January 2021

Diamond-Blackfan syndrome. I. Erythropoiesis in prednisone responsive and resistant disease

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7 January 2021

Impaired ribosome biogenesis in Diamond-Blackfan anemia

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7 January 2021

Ribosomal Protein S19 Gene Mutations in Patients with Diamond-Blackfan Anemia and Identification of Ribosomal Protein S19 Pseudogenes

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7 January 2021

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

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7 January 2021

Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray.

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7 January 2021

Diamond Blackfan anemia: A paradigm for a ribosome-based disease.

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7 January 2021

Bone-marrow microenvironment defect in congenital hypoplastic anemia

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7 January 2021

Mandibulo-facial dysostosis. (Treacher-Collins syndrome)

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Erythroid colony growth in congenital hypoplastic anemia

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

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7 January 2021

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Diamond-Blackfan anemia associated with Treacher-Collins syndrome

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Diamond-Blackfan syndrome: lymphocyte-mediated suppression of erythropoiesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Diamond-Blackfan anemia. Natural history and sequelae of treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

ANAEMIA OF INFANCY AND EARLY CHILDHOOD

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Analysis of nucleolar protein dynamics reveals the nuclear degradation of ribosomal proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis

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7 January 2021

Cancer-associated mutations in the MDM2 zinc finger domain disrupt ribosomal protein interaction and attenuate MDM2-induced p53 degradation

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7 January 2021

Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry

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7 January 2021

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry

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7 January 2021

Ribosomes and marrow failure: coincidental association or molecular paradigm?

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7 January 2021

A novel nucleolar protein interacts with ribosomal protein S19

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7 January 2021

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation

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7 January 2021

Ribosome biogenesis and cell growth: mTOR coordinates transcription by all three classes of nuclear RNA polymerases

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7 January 2021

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

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7 January 2021

The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Erythroid Precursors in Congenital Hypoplastic (Diamond-Blackfan) Anemia

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7 January 2021

Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trial

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7 January 2021

Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect

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7 January 2021

Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation

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7 January 2021

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

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7 January 2021

The Myc trilogy: lord of RNA polymerases.

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7 January 2021

Developmental biology of erythropoiesis

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7 January 2021

Evidence of p53-dependent cross-talk between ribosome biogenesis and the cell cycle: effects of nucleolar protein Bop1 on G(1)/S transition

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Cancer incidence in persons with Fanconi anemia.

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7 January 2021

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Bone marrow transplantation for diamond-blackfan anemia

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Does the ribosome translate cancer?

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Diamond-Blackfan syndrome: a possible role of cellular factors for erythropoietic suppression

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Fibroblast growth factor-2 interacts with free ribosomal protein S19

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response.

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

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7 January 2021

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

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7 January 2021

An intrinsic progenitor defect in Diamond-Blackfan anaemia

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7 January 2021

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

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7 January 2021

Dyskeratosis congenita

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7 January 2021

Preimplantation testing to produce an HLA-matched donor infant

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Erythropoiesis is distinct at each stage of ontogeny

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Molecular mechanism of monocyte predominant infiltration in chronic inflammation: mediation by a novel monocyte chemotactic factor, S19 ribosomal protein dimer

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Treacher Collins syndrome

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https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2807%2900008-7

7 January 2021

10.1016/S0070-2153(07)00008-7

Identifiers

DOI

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18 August 2017

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