(Q35839864)

10 August 2017

Perforin gene mutations in patients with acquired aplastic anemia (English)

1 reference

10 August 2017

1 reference

acquired aplastic anemia

1 reference

9

Stephen J Chanock

1 reference

10 August 2017

Elena E Solomou

1

1 reference

10 August 2017

Federica Gibellini

2

1 reference

10 August 2017

Brian Stewart

3

1 reference

10 August 2017

Daniela Malide

4

1 reference

10 August 2017

Maria Berg

5

1 reference

10 August 2017

Valeria Visconte

6

1 reference

10 August 2017

Spencer Green

7

1 reference

10 August 2017

Richard Childs

8

1 reference

10 August 2017

Neal S Young

10

1 reference

10 August 2017

language of work or name

English

0 references

publication date

20 February 2007

1 reference

10 August 2017

1 reference

10 August 2017

109

1 reference

10 August 2017

12

1 reference

10 August 2017

5234-5237

1 reference

Perforin-mediated target-cell death and immune homeostasis

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Current concepts in the pathophysiology and treatment of aplastic anemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

T-bet, a Th1 transcription factor, is up-regulated in T cells from patients with aplastic anemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Familial and acquired hemophagocytic lymphohistiocytosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

The granule pathway of programmed cell death

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Perforin and lymphohistiocytic proliferative disorders.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Recent developments in the transcriptional regulation of cytolytic effector cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Pathogenesis of hemophagocytic syndrome (HPS).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

A human genome diversity cell line panel

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Hemophagocytic syndromes and infection

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Perforin: more than just an effector molecule

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Treatment of severe aplastic anemia with high-dose methylprednisolone and antilymphocyte globulin

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1890825

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

14 November 2018

1 reference

12 December 2020

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations

1 reference

12 December 2020

Circulating activated suppressor T lymphocytes in aplastic anemia

1 reference

12 December 2020

Analysis of natural killer cells in patients with aplastic anemia

1 reference

12 December 2020

10.1182/BLOOD-2006-12-063495

Identifiers

DOI

1 reference

release_wl6dsnizffb2tmv5wgrmjgddha

10 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wl6dsnizffb2tmv5wgrmjgddha

24 November 2022

mapped directly with Wikidata item

1 reference

10 August 2017

PubMed publication ID

17311987

1 reference