(Q38199150)

30 August 2017

Diamond Blackfan anemia: a model for the translational approach to understanding human disease (English)

1 reference

30 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1

Adrianna Vlachos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Jeffrey M Lipton

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

26 March 2014

1 reference

Expert Review of Hematology

30 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

7

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

359-372

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

ANAEMIA OF INFANCY AND EARLY CHILDHOOD

11 June 2020

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

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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

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Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia

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Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome

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Occurrence of infection with a parvovirus-like agent in children with sickle cell anaemia during a two-year period

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Direct demonstration of the human parvovirus in erythroid progenitor cells infected in vitro

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Characterization of a virus that causes transient aplastic crisis

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Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia

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Transient erythroblastopenia of adolescence

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Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

21 January 2018

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Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

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Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases

21 January 2018

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Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.

21 January 2018

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Congenital anemia and triphalangeal thumbs: A new syndrome

21 January 2018

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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

21 January 2018

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Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

21 January 2018

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Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

21 January 2018

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How I treat Diamond-Blackfan anemia

21 January 2018

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

21 January 2018

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Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. International Diamond-Blackfan Anemia Study Group

21 January 2018

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Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.

21 January 2018

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Combined chelation therapy with deferasirox and deferoxamine in thalassemia

21 January 2018

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

21 January 2018

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Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

21 January 2018

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Lymphocyte dysfunction in congenital hypoplastic anemia

21 January 2018

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Erythroid colony growth in congenital hypoplastic anemia

21 January 2018

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Erythroid Precursors in Congenital Hypoplastic (Diamond-Blackfan) Anemia

21 January 2018

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An intrinsic progenitor defect in Diamond-Blackfan anaemia

21 January 2018

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Diamond-Blackfan syndrome. II. In vitro corticosteroid effect on erythropoiesis.

21 January 2018

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X-ray-sensitivity of lymphocytes of aplastic- and Diamond-Blackfan-anemia patients as detected by conventional cytogenetic and chromosome painting techniques

21 January 2018

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Congenital hypoplastic anemia associated with hypogammaglobulinemia.

21 January 2018

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Do ribosomopathies explain some cases of common variable immunodeficiency?

21 January 2018

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21 January 2018

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Congenital (erythroid) hypoplastic anaemia: modified expression in males

21 January 2018

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Congenital erythroid hypoplastic anaemia in mother and daughter

21 January 2018

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Congenital (Erythroid) Hypoplastic Anemia

21 January 2018

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Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.

21 January 2018

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Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation

21 January 2018

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Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

21 January 2018

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

21 January 2018

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

21 January 2018

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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

21 January 2018

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Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders

21 January 2018

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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

21 January 2018

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

21 January 2018

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

21 January 2018

1 reference

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

21 January 2018

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Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.

21 January 2018

1 reference

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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.

21 January 2018

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Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.2014.897923

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.2014.897923

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

21 January 2018

1 reference

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Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

21 January 2018

1 reference

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Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia

21 January 2018

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Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

21 January 2018

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The role of p53 in ribosomopathies

21 January 2018

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5S ribosomal RNA is an essential component of a nascent ribosomal precursor complex that regulates the Hdm2-p53 checkpoint

21 January 2018

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Loss of tumor suppressor RPL5/RPL11 does not induce cell cycle arrest but impedes proliferation due to reduced ribosome content and translation capacity.

21 January 2018

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Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts

21 January 2018

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Specialized ribosomes: a new frontier in gene regulation and organismal biology

21 January 2018

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Animal models of Diamond Blackfan anemia

21 January 2018

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Louis K. Diamond: an incomparable legacy.

21 January 2018

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Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine

21 January 2018

1 reference

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Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.2014.897923

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

21 January 2018

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Ribosome biogenesis and control of cell proliferation: p53 is not alone

21 January 2018

1 reference

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10.1586/17474086.2014.897923

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665981%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference