(Q34192317)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Katherine R. Calvo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Smita Y Patel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Donald C Vinh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Jordan Orange

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

12

Gulbu Uzel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

15

Stefania Pittaluga

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

17

Douglas B Kuhns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

11

Kenneth N Olivier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

20

Beatriz E Marciano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

14

Christine Spalding

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

13

Christa S Zerbe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

Jennifer Cuellar-Rodriguez

4 February 2020

23

object named as

Jennifer Cuellar-Rodriguez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

24

Dennis D Hickstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

7

David M Frucht

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

16

Mark Raffeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Juan C Gea-Banacloche

21

object named as

Juan C Gea-Banacloche

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

Elizabeth P Sampaio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Javed Khan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Jacob E Lemieux

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Roger D Auth

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Alexandra F Freeman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Li Ding

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Michelle L Paulson

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Steven M Holland

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

language of work or name

English

0 references

publication date

13 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

2653-2655

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

IRF8 mutations and human dendritic-cell immunodeficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

GATA switches as developmental drivers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

A method and server for predicting damaging missense mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Defects in the interferon-gamma and interleukin-12 pathways

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Effect of transcription factor GATA-2 on phagocytic activity of alveolar macrophages from Pneumocystis carinii-infected hosts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Nonsense-mediated mRNA decay in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172785

Mutation of CEBPA in familial acute myeloid leukemia

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21670465

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21670465

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2011-05-356352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670465%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference