(Q24321881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

main subject

Ribosomal protein S17

1 reference

GOA release 2020-03-11

erythrocyte homeostasis

1 reference

GOA release 2020-03-11

Diamond-Blackfan anemia

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Radek Cmejla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Jana Cmejlova

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Helena Handrkova

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Dagmar Pospisilova

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

language of work or name

English

0 references

publication date

1 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

1178-1182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17647292%20AND%20SRC:MED&resulttype=core&format=json

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

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Eukaryotic initiation factors eIF-2 and eIF-3: interactions, structure and localization in ribosomal initiation complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Impaired ribosome biogenesis in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Eukaryotic ribosomal proteins lacking a eubacterial counterpart: important players in ribosomal function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Diamond-Blackfan anemia: erythropoiesis lost in translation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Diamond-Blackfan anaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Recent insights into the pathogenesis of Diamond-Blackfan anaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

Ribosomes and marrow failure: coincidental association or molecular paradigm?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20608

7 January 2021