(Q34282181)

1 August 2017

title

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia (English)

1 reference

1 August 2017

10

Eric S Lander

1 reference

1 August 2017

Alan H Beggs

6

0 references

Jo-Anne Vergilio

5

object named as

Jo-Anne Vergilio

1 reference

1 August 2017

Vijay G Sankaran

1

1 reference

1 August 2017

Roxanne Ghazvinian

2

1 reference

1 August 2017

Ron Do

3

1 reference

1 August 2017

Prathapan Thiru

4

1 reference

1 August 2017

Colin A Sieff

7

1 reference

1 August 2017

Stuart H Orkin

8

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1 August 2017

David G Nathan

9

1 reference

1 August 2017

Hanna T Gazda

11

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1 August 2017

language of work or name

English

0 references

publication date

18 June 2012

1 reference

Journal of Clinical Investigation

1 August 2017

published in

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1 August 2017

volume

122

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1 August 2017

issue

7

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1 August 2017

page(s)

2439-2443

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Ribosomopathies: human disorders of ribosome dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Graded levels of GATA-1 expression modulate survival, proliferation, and differentiation of erythroid progenitors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

A "knockdown" mutation created by cis-element gene targeting reveals the dependence of erythroid cell maturation on the level of transcription factor GATA-1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386831

Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22706301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22706301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI63597

1 reference

1 August 2017

1 reference

1 August 2017

1 reference