(Q27851467)

13 November 2016

title

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

1 reference

PubMed publication ID

13 November 2016

4

Martha Wadleigh

0 references

Alison M Schram

Alison M Schram

3

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Hagop Kantarjian

11

Hagop Kantarjian

0 references

Kenneth Offit

12

Kenneth Offit

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Guillermo Garcia-Manero

10

Guillermo Garcia-Manero

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Gary L Gilliland

14

D Gary Gilliland

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Ross L Levine

16

Ross L Levine

0 references

Ann Mullally

5

Ann Mullally

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Outi Kilpivaara

1

Outi Kilpivaara

0 references

Adriana Heguy

9

Adriana Heguy

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Benjamin L. Ebert

6

Benjamin L Ebert

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author name string

Semanti Mukherjee

2

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Adam Bass

7

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Sachie Marubayashi

8

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Richard M Stone

13

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Robert J Klein

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

15

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language of work or name

English

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publication date

April 2009

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published in

Nature Genetics

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volume

41

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issue

4

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page(s)

455-9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

PLINK: a tool set for whole-genome association and population-based linkage analyses

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Principal components analysis corrects for stratification in genome-wide association studies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

The 'common disease-common variant' hypothesis and familial risks

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Identification of an acquired JAK2 mutation in polycythemia vera

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Polycythemia vera: stem-cell and probable clonal origin of the disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676425

Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders

29 September 2017

1 reference

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

21 January 2018

1 reference

New cancer susceptibility loci: population and familial risks

21 January 2018

1 reference

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC

21 January 2018

1 reference

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

21 January 2018

1 reference

Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement

21 January 2018

1 reference

12 December 2020

Clonal analysis of haemopoietic cells in essential thrombocythaemia

1 reference

12 December 2020

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

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

Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.342

1 reference

Dimensions Publication ID

1024313808

0 references

1 reference

1 reference

PubMed publication ID

19287384

1 reference