High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. (Q37023060)

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scientific article published on 06 December 2012

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English	High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.	scientific article published on 06 December 2012

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scholarly article

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20 February 2020

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia (English)

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20 February 2020

chronic myeloid leukemia

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20 February 2020

Pierre S Rohrlich

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20 February 2020

Françoise Bachelerie

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Jean Donadieu

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Blandine Beaupain

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Blandine Beaupain

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20 February 2020

Christine Bellanné-Chantelot

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Christine Bellanné-Chantelot

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20 February 2020

Marlène Pasquet

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Marlène Pasquet

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Thierry Lamy

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author name string

Suzanne Tavitian

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20 February 2020

Naïs Prade

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20 February 2020

Olivier Larochelle

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20 February 2020

Christophe Ferrand

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20 February 2020

Eric Van Den Neste

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20 February 2020

Hélène A Poirel

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20 February 2020

Marie Ouachée-Chardin

13

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20 February 2020

Véronique Mansat-De Mas

14

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20 February 2020

Christian Récher

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20 February 2020

Geneviève Plat

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20 February 2020

Eric Delabesse

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publication date

6 December 2012

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20 February 2020

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8

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121

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5

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20 February 2020

822-829

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20 February 2020

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

1 reference

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29 September 2017

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

1 reference

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29 September 2017

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Congenital neutropenia: diagnosis, molecular bases and patient management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Familial myelodysplasia and acute myeloid leukaemia--a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

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

1 reference

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29 September 2017

Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

29 September 2017

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

4 September 2018

Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

4 September 2018

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

4 September 2018

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

4 September 2018

Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

4 December 2018

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714670

4 December 2018

Familial partial monosomy 7 and myelodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23223431

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23223431

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of CEBPA in familial acute myeloid leukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23223431

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23223431

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2012-08-447367

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20 February 2020

1 reference

Europe PubMed Central

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20 February 2020

1 reference

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20 February 2020

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