(Q35132280)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20304805%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms (English)

1 reference

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21 January 2020

9

1 reference

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21 January 2020

Aliaksei Kisialiou

15

1 reference

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21 January 2020

Anthony R Green

18

1 reference

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21 January 2020

Nicholas Cross

19

1 reference

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21 January 2020

author name string

Amy V Jones

1

1 reference

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21 January 2020

Peter J Campbell

2

1 reference

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21 January 2020

Philip A Beer

3

1 reference

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21 January 2020

Alessandro M Vannucchi

5

1 reference

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21 January 2020

Katerina Zoi

6

1 reference

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21 January 2020

Melanie J Percy

7

1 reference

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21 January 2020

Mary Frances McMullin

8

1 reference

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21 January 2020

William Tapper

10

1 reference

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21 January 2020

Richard T Silver

11

1 reference

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21 January 2020

David Oscier

12

1 reference

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21 January 2020

Claire N Harrison

13

1 reference

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21 January 2020

Paul Strike

16

1 reference

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21 January 2020

Andrew J Chase

17

1 reference

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21 January 2020

Susanne Schnittger

4

1 reference

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21 January 2020

Harald Grallert

14

1 reference

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21 January 2020

language of work or name

English

0 references

publication date

19 March 2010

1 reference

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21 January 2020

1 reference

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21 January 2020

volume

115

1 reference

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21 January 2020

page(s)

4517-4523

1 reference

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21 January 2020

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20304805%20AND%20SRC:MED&resulttype=core&format=json

Crohn's disease: Th1, Th17 or both? The change of a paradigm: new immunological and genetic insights implicate Th17 cells in the pathogenesis of Crohn's disease

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

KORA--a research platform for population based health research

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

A gain-of-function mutation of JAK2 in myeloproliferative disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

The International HapMap Project

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

A comparison of bayesian methods for haplotype reconstruction from population genotype data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Subsystems contributing to the decline in ability to walk: bridging the gap between epidemiology and geriatric practice in the InCHIANTI study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Somatic and germline genetics at the JAK2 locus.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Anaemia characterises patients with myelofibrosis harbouring Mpl mutation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145114

The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera

27 September 2018

1 reference

12 December 2020

Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders

1 reference

12 December 2020

Familial Chronic Myeloproliferative Disorders: Clinical Phenotype and Evidence of Disease Anticipation

1 reference

12 December 2020

Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders

1 reference

12 December 2020

10.1182/BLOOD-2009-08-236448

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20304805%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20304805%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference