(Q56941325)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12060139%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis (English)

1 reference

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9 November 2019

0 references

6

1 reference

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9 November 2019

Elie Haddad

7

1 reference

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9 November 2019

Jean-Laurent Casanova

9

1 reference

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Geneviève de Saint Basile

9 November 2019

12

1 reference

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9 November 2019

8

Nico Wulffraat

1 reference

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9 November 2019

2

Françoise Le Deist

1 reference

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9 November 2019

10

Stéphane Blanche

1 reference

9 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12060139%20AND%20SRC:MED&resulttype=core&format=json

Marie Ouachée-Chardin

3

object named as

Marie Ouachée-Chardin

1 reference

9 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12060139%20AND%20SRC:MED&resulttype=core&format=json

author name string

Jérôme Feldmann

1

1 reference

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9 November 2019

Stéphanie Certain

4

1 reference

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9 November 2019

Sarah Alexander

5

1 reference

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9 November 2019

Alain Fischer

11

1 reference

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9 November 2019

language of work or name

English

0 references

publication date

1 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12060139%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Haematology

9 November 2019

published in

1 reference

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9 November 2019

volume

117

1 reference

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9 November 2019

issue

4

1 reference

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9 November 2019

page(s)

965-972

1 reference

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Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Anti-viral strategies of cytotoxic T lymphocytes are manifested through a variety of granule-bound pathways of apoptosis induction

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Familial haemophagocytic reticulosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Structure and function of human perforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Mannose 6-phosphate/insulin-like growth factor II receptor is a death receptor for granzyme B during cytotoxic T cell-induced apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Familial erythrophagocytic lymphohistiocytosis: late relapse despite continuous high-dose VP-16 chemotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

10.1046/J.1365-2141.2002.03534.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12060139%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference