Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene. (Q39877055)

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22 January 2020

title

Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262573%20AND%20SRC:MED&resulttype=core&format=json

familial Mediterranean fever

22 January 2020

main subject

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inferred from title

author

Pascal de Santa Barbara

3

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22 January 2020

author name string

C Notarnicola

1

1 reference

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22 January 2020

B Boizet-Bonhoure

2

1 reference

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22 January 2020

M A Osta

4

1 reference

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22 January 2020

D Cattan

5

1 reference

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22 January 2020

I Touitou

6

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22 January 2020

publication date

5 March 2009

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22 January 2020

1 reference

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22 January 2020

volume

10

1 reference

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22 January 2020

issue

3

1 reference

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22 January 2020

page(s)

273-279

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https://scigraph.springernature.com/pub.10.1038/gene.2009.8

22 January 2020

exact match

0 references

cites work

The spectrum of Familial Mediterranean Fever (FMF) mutations

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

A candidate gene for familial Mediterranean fever

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

The infevers autoinflammatory mutation online registry: update with new genes and functions.

1 reference

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7 January 2021

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

Sp1 control of gene expression in myeloid cells

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2009.8

7 January 2021

ETS transcription factors and regulation of immunity

1 reference

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7 January 2021