(Q45072261)

9 December 2017

title

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

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9 December 2017

17

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Joerg J Meerpohl

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Jan M Zaucha

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1

Hanna T Gazda

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Colin A Sieff

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4

Edyta Niewiadomska

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9 December 2017

8

Adrianna Vlachos

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W Wiktor-Jedrzejczak

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9 December 2017

Roma Rokicka-Milewska

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object named as

Roma Rokicka-Milewska

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9 December 2017

Rong Zhong

2

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9 December 2017

Lilia Long

3

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9 December 2017

Jeffrey M Lipton

5

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9 December 2017

Anna Ploszynska

6

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9 December 2017

Evangelia Atsidaftos

9

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9 December 2017

David H Viskochil

10

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9 December 2017

Charlotte M Niemeyer

11

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9 December 2017

Dagmar Pospisilova

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9 December 2017

David G Nathan

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9 December 2017

language of work or name

English

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publication date

1 October 2004

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British Journal of Haematology

9 December 2017

published in

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9 December 2017

volume

127

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9 December 2017

issue

1

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9 December 2017

page(s)

105-113

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Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

9 December 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Ribosomal protein S19 expression during erythroid differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Solubilization and purification of enzymatically active glutathione S-transferase (pGEX) fusion proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Quality control of mRNA function

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

Williams syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05152.X

10.1111/J.1365-2141.2004.05152.X

21 January 2018

Identifiers

DOI

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9 December 2017

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