Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients (Q24643416)

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18 January 2020

title

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

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18 January 2020

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1 reference

Diamond-Blackfan anemia

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Marie-Francoise O'Donohue

inferred from title

author

5

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18 January 2020

Peter Newburger

10

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18 January 2020

Edyta Niewiadomska

12

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18 January 2020

Michał Matysiak

13

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18 January 2020

Joerg J Meerpohl

17

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18 January 2020

Pierre-Emmanuel Gleizes

20

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18 January 2020

Alan H. Beggs

21

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18 January 2020

14

Jan M Zaucha

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18 January 2020

3

Adrianna Vlachos

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18 January 2020

15

Bertil Glader

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18 January 2020

author name string

Hanna T Gazda

1

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18 January 2020

Mee Rie Sheen

2

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18 January 2020

Valerie Choesmel

4

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18 January 2020

Hal Schneider

6

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18 January 2020

Natasha Darras

7

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18 January 2020

Catherine Hasman

8

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18 January 2020

Colin A Sieff

9

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18 January 2020

Sarah E Ball

11

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18 January 2020

Charlotte Niemeyer

16

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18 January 2020

Eva Atsidaftos

18

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18 January 2020

Jeffrey M Lipton

19

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18 January 2020

language of work or name

English

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publication date

1 December 2008

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American Journal of Human Genetics

18 January 2020

published in

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18 January 2020

volume

83

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18 January 2020

issue

6

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18 January 2020

page(s)

769-780

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The role of human ribosomal proteins in the maturation of rRNA and ribosome production

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Inhibition of c-Myc activity by ribosomal protein L11

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Impaired ribosome biogenesis in Diamond-Blackfan anemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Inhibition of HDM2 and activation of p53 by ribosomal protein L23

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Ribosomal Protein L11 Negatively Regulates Oncoprotein MDM2 and Mediates a p53-Dependent Ribosomal-Stress Checkpoint Pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Assembly factors Rpf2 and Rrs1 recruit 5S rRNA and ribosomal proteins rpL5 and rpL11 into nascent ribosomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

The ribosomal protein Rps15p is required for nuclear exit of the 40S subunit precursors in yeast

7 April 2017

1 reference

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Late cytoplasmic maturation of the small ribosomal subunit requires RIO proteins in Saccharomyces cerevisiae

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Ribosome synthesis in Saccharomyces cerevisiae

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Regulation of HDM2 activity by the ribosomal protein L11

7 April 2017

1 reference

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

7 April 2017

1 reference

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Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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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

7 April 2017

1 reference

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Diamond Blackfan anemia: a disorder of red blood cell development

7 April 2017

1 reference

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Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.

27 September 2017

1 reference

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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.

27 September 2017

1 reference

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5-fluorouracil activation of p53 involves an MDM2-ribosomal protein interaction

27 September 2017

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

27 September 2017

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Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model

27 September 2017

1 reference

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

27 September 2017

1 reference

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Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

27 September 2017

1 reference

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

27 September 2017

1 reference

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Human ribosomal protein L5 contains defined nuclear localization and export signals

27 September 2017

1 reference

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Distinct domains in ribosomal protein L5 mediate 5 S rRNA binding and nucleolar localization

27 September 2017

1 reference

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Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

Congenital anemia and triphalangeal thumbs: A new syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

27 September 2017

1 reference

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668101

The association of Blackfan-Diamond syndrome, physical abnormalities, and an abnormality of chromosome 1

28 November 2018

1 reference

12 December 2020

Alternative pre-rRNA processing pathways in human cells and their alteration by cycloheximide inhibition of protein synthesis

1 reference

12 December 2020

Diamond-Blackfan anemia. Natural history and sequelae of treatment

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.AJHG.2008.11.004

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061985%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061985%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

19061985

2 references