(Q38236321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25086802%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

title

Genetic defects in cytolysis in macrophage activation syndrome (English)

1 reference

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11 March 2020

1 reference

6

1 reference

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11 March 2020

2

Edward M Behrens

1 reference

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11 March 2020

author name string

Mingce Zhang

1

1 reference

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11 March 2020

T Prescott Atkinson

3

1 reference

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11 March 2020

Bita Shakoory

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25086802%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Alexei A Grom

5

1 reference

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11 March 2020

publication date

1 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25086802%20AND%20SRC:MED&resulttype=core&format=json

Current Rheumatology Reports

11 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25086802%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

volume

16

1 reference

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11 March 2020

issue

9

1 reference

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11 March 2020

page(s)

439

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https://scigraph.springernature.com/pub.10.1007/s11926-014-0439-2

11 March 2020

exact match

0 references

cites work

The expanding spectrum of hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Adult onset Still's disease: a study of 14 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome in children with systemic lupus erythematosus and children with juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome in juvenile systemic lupus erythematosus: an under-recognized complication?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome in the acute phase of Kawasaki disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

An international consensus survey of diagnostic criteria for macrophage activation syndrome in systemic juvenile idiopathic arthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Clinical features of adult patients with secondary hemophagocytic lymphohistiocytosis from causes other than lymphoma: an analysis of treatment outcome and prognostic factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Secondary hemophagocytic lymphohistiocytosis and severe sepsis/ systemic inflammatory response syndrome/multiorgan dysfunction syndrome/macrophage activation syndrome share common intermediate phenotypes on a spectrum of inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Day 1 multiple organ dysfunction syndrome is associated with poor functional outcome and mortality in the pediatric intensive care unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Recognition of a Kawasaki disease shock syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

The hyperferritinemic syndrome: macrophage activation syndrome, Still's disease, septic shock and catastrophic antiphospholipid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Virus-associated hemophagocytic syndrome as a major contributor to death in patients with 2009 influenza A (H1N1) infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Autopsy findings in eight patients with fatal H1N1 influenza

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Repeated TLR9 stimulation results in macrophage activation syndrome-like disease in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Hemophagocytic lymphohistiocytosis: updates and evolving concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Advances in understanding the pathogenesis of HLH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Mixed hematopoietic or T-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome in rheumatic disease: what is the role of the antigen presenting cell?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Perforin deficiency impairs a critical immunoregulatory loop involving murine CD8(+) T cells and dendritic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

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/10.1007%2FS11926-014-0439-2

Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Functional impact of A91V mutation of the PRF1 perforin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

FOXP3 inhibits HIV-1 infection of CD4 T-cells via inhibition of LTR transcriptional activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Properties of the K562 cell line, derived from a patient with chronic myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

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/10.1007%2FS11926-014-0439-2

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-014-0439-2

Development and application of a multiplexable flow cytometry-based assay to quantify cell-mediated cytolysis

21 January 2018

1 reference

12 December 2020

Haemophagocytic syndrome in rheumatic patients. A systematic review

1 reference

12 December 2020

Familial and acquired hemophagocytic lymphohistiocytosis

1 reference

12 December 2020

Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis.

1 reference

12 December 2020

Characterization of a human cell line (NK-92) with phenotypical and functional characteristics of activated natural killer cells

1 reference

12 December 2020

The diagnostic significance of soluble CD163 and soluble interleukin-2 receptor alpha-chain in macrophage activation syndrome and untreated new-onset systemic juvenile idiopathic arthritis

1 reference

12 December 2020

Successful treatment of severe paediatric rheumatic disease-associated macrophage activation syndrome with interleukin-1 inhibition following conventional immunosuppressive therapy: case series with 12 patients

1 reference

12 December 2020

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

1 reference

12 December 2020