Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia (Q24337910)

GOA release 2020-03-11

erythrocyte homeostasis

1 reference

GOA release 2020-03-11

Diamond-Blackfan anemia

1 reference

Edyta Niewiadomska

11

0 references

Joerg J Meerpohl

Joerg J Meerpohl

15

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Alan H. Beggs

Alan H Beggs

22

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Hanna T Gazda

1

Hanna T Gazda

0 references

Colin A Sieff

23

Colin A Sieff

0 references

Eva Atsidaftos

8

Eva Atsidaftos

0 references

Adrianna Vlachos

7

Adrianna Vlachos

0 references

Bertil Glader

18

Bertil Glader

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author name string

Agnieszka Grabowska

2

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Lilia B Merida-Long

3

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Elzbieta Latawiec

4

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Hal E Schneider

5

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Jeffrey M Lipton

6

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Sarah E Ball

9

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Karen A Orfali

10

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Lydie Da Costa

12

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Gil Tchernia

13

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Charlotte Niemeyer

14

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Joachim Stahl

16

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Gerhard Schratt

17

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Karen Backer

19

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Carolyn Wong

20

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David G Nathan

American Journal of Human Genetics

21

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language of work or name

English

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publication date

December 2006

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published in

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volume

79

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page(s)

1110-8

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issue

6

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cites work

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Molecular characterization of the mouse ribosomal protein S24 multigene family: a uniquely expressed intron-containing gene with cell-specific expression of three alternatively spliced mRNAs

19 March 2017

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

19 March 2017

1 reference

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

19 March 2017

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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Immunoelectron microscopic studies on the location of ribosomal proteins on the surface of the 40S ribosomal subunit from rat liver

19 March 2017

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Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia

19 March 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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Ribosomal protein S19 expression during erythroid differentiation.

27 September 2017

1 reference

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

27 September 2017

1 reference

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Regulation of ribosome biosynthesis in Escherichia coli and Saccharomyces cerevisiae: diversity and common principles

27 September 2017

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The gene encoding human ribosomal protein S24 and tissue-specific expression of differentially spliced mRNAs

27 September 2017

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Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

27 September 2017

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Coordinate expression of ribosomal protein genes in yeast as a function of cellular growth rate

27 September 2017

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27 September 2017

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

27 September 2017

1 reference

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BDNF regulates the translation of a select group of mRNAs by a mammalian target of rapamycin-phosphatidylinositol 3-kinase-dependent pathway during neuronal development.

29 November 2018

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Ribosomal proteins S3a, S13, S16, and S24 are not mutated in patients with Diamond-Blackfan anemia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698708

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

29 November 2018

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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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186470

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/17186470