(Q33645930)

28 July 2017

title

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

1 reference

28 July 2017

main subject

Diamond-Blackfan anemia

1 reference

Edyta Niewiadomska

11

0 references

Jason E Farrar

Jason E Farrar

15

0 references

Pierre-Emmanuel Gleizes

Pierre-Emmanuel Gleizes

18

0 references

Peter Newburger

Peter E Newburger

9

0 references

Michał Matysiak

12

Michal Matysiak

1 reference

28 July 2017

19

Hanna T Gazda

1 reference

28 July 2017

8

Colin A Sieff

1 reference

28 July 2017

16

Eva Atsidaftos

1 reference

28 July 2017

3

Adrianna Vlachos

1 reference

28 July 2017

13

Bertil Glader

1 reference

28 July 2017

Leana Doherty

1

1 reference

28 July 2017

Mee Rie Sheen

2

1 reference

28 July 2017

Valerie Choesmel

4

1 reference

28 July 2017

Marie-Françoise O'Donohue

5

1 reference

28 July 2017

Catherine Clinton

6

1 reference

28 July 2017

Hal E Schneider

7

1 reference

28 July 2017

Sarah E Ball

10

1 reference

28 July 2017

Robert J Arceci

14

1 reference

28 July 2017

Jeffrey M Lipton

17

1 reference

28 July 2017

language of work or name

English

0 references

publication date

28 January 2010

1 reference

American Journal of Human Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

86

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

222-228

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Impaired ribosome biogenesis in Diamond-Blackfan anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820177

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20116044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20116044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diamond-Blackfan anemia. Natural history and sequelae of treatment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20116044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.12.015

1 reference

28 July 2017

1 reference

28 July 2017

1 reference