Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis (Q35095302)

25042156

6 August 2017

title

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis (English)

1 reference

6 August 2017

1 reference

Paola Quarello

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Ross Fisher

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Kelly A O'Brien

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Anna Aspesi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sara Parrella

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Adrianna L Henson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nancy E Seidel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Eva Atsidaftos

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Supraja Prakash

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Shahla Bari

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Emanuela Garelli

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Robert J Arceci

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Irma Dianzani

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Ugo Ramenghi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Jeffrey M Lipton

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

David M Bodine

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Steven R Ellis

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

0 references

publication date

4 August 2014

1 reference

25042156

American Journal of Hematology

6 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

985-991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

13 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Proofreading of pre-40S ribosome maturation by a translation initiation factor and 60S subunits

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Do ribosomopathies explain some cases of common variable immunodeficiency?

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Advances in the 5q- syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Impaired ribosome biogenesis in Diamond-Blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Genome-scale loss-of-function screening with a lentiviral RNAi library

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

A lentiviral RNAi library for human and mouse genes applied to an arrayed viral high-content screen

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Ribosomes and marrow failure: coincidental association or molecular paradigm?

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

RPG: the Ribosomal Protein Gene database

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Congenital anemia and triphalangeal thumbs: A new syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Spleen length in childhood with US: normal values based on age, sex, and somatometric parameters.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4332597

Diamond-Blackfan anaemia in the Italian population

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25042156

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25042156

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJH.23807

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

25042156

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042156%20AND%20SRC:MED&resulttype=core&format=json