(Q28296164)

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update (English)

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author name string

Ilenia Boria

1

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Emanuela Garelli

2

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Hanna T Gazda

3

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Anna Aspesi

4

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Paola Quarello

5

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Elisa Pavesi

6

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Daniela Ferrante

7

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Joerg J Meerpohl

8

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Mutlu Kartal

9

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Lydie Da Costa

10

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Alexis Proust

11

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Thierry Leblanc

12

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Maud Simansour

13

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Niklas Dahl

14

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Anne-Sophie Fröjmark

15

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Dagmar Pospisilova

16

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Radek Cmejla

17

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Alan H Beggs

18

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Mee R Sheen

19

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Michael Landowski

20

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Christopher M Buros

21

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Catherine M Clinton

22

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Lori J Dobson

23

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Adrianna Vlachos

24

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Eva Atsidaftos

25

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Jeffrey M Lipton

26

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Steven R Ellis

27

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Ugo Ramenghi

28

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Irma Dianzani

29

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original language of film or TV show

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publication date

December 2010

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31

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12

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1269-79

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Regulation of nucleolar signalling to p53 through NEDDylation of L11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

RPS19 mutations in patients with Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

Impaired ribosome biogenesis in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

Human ribosomal protein S26 suppresses the splicing of its pre-mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

A 5S rRNA/L5 complex is a precursor to ribosome assembly in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

20 March 2017

Pre-ribosomes on the road from the nucleolus to the cytoplasm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

7 April 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485435

7 April 2017

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