Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals (Q57272547)

Richard Tothill

4

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Joseph A. Trapani

Joseph A Trapani

9

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Alexander Dobrovic

Alexander Dobrovic

5

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Richard Saffery

7

Richard Saffery

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author name string

Imran G House

1

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Kevin Thia

2

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Amelia J Brennan

3

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Wei Z Yeh

6

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Ilia Voskoboinik

Immunology & Cell Biology

10

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publication date

17 March 2015

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published in

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volume

93

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issue

6

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page(s)

575-580

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cites work

Perforin forms transient pores on the target cell plasma membrane to facilitate rapid access of granzymes during killer cell attack

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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

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Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer

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Perforin deficiency and susceptibility to cancer

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A proportion of patients with lymphoma may harbor mutations of the perforin gene.

21 January 2018

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

21 January 2018

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Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group

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Human perforin mutations and susceptibility to multiple primary cancers

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

21 January 2018

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The impact of cis-acting polymorphisms on the human phenotype

21 January 2018

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Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FICB.2015.1

Searching for polymorphisms that affect gene expression and mRNA processing: example ABCB1 (MDR1).

21 January 2018

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Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis

21 January 2018

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

21 January 2018

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Perforin-independent beta-cell destruction by diabetogenic CD8(+) T lymphocytes in transgenic nonobese diabetic mice

21 January 2018

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Reduced incidence and delayed onset of diabetes in perforin-deficient nonobese diabetic mice

21 January 2018

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Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

21 January 2018

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Allele-specific gene expression uncovered

21 January 2018

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Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients

21 January 2018

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T cell receptor antagonist peptides induce positive selection

21 January 2018

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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/10.1038%2FICB.2015.1

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25776844

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25776844

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Variations of the perforin gene in patients with multiple sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25776844