(Q35115428)

6 August 2017

1 reference

title

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan (English)

1 reference

premature termination codon

6 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12716377

28 December 2023

author name string

Ikuyo Ueda

1

1 reference

6 August 2017

Akira Morimoto

2

1 reference

6 August 2017

Tohru Inaba

3

1 reference

6 August 2017

Tomohito Yagi

4

1 reference

6 August 2017

Shigeyoshi Hibi

5

1 reference

6 August 2017

Tohru Sugimoto

6

1 reference

6 August 2017

Masahiro Sako

7

1 reference

6 August 2017

Fumio Yanai

8

1 reference

6 August 2017

Takashi Fukushima

9

1 reference

6 August 2017

Masahiko Nakayama

10

1 reference

6 August 2017

Eiichi Ishii

11

1 reference

6 August 2017

Shinsaku Imashuku

12

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 May 2003

1 reference

full work available at URL

6 August 2017

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1046/j.1365-2141.2003.04298.x

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12716377

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2141.2003.04298.x

28 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2141.2003.04298.x

28 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

British Journal of Haematology

28 December 2023

published in

1 reference

6 August 2017

121

1 reference

6 August 2017

3

1 reference

6 August 2017

503-510

1 reference

Pathogenesis of haemophagocytic lymphohistiocytosis

6 August 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.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.1365-2141.2003.04298.X

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Biology and treatment of familial hemophagocytic lymphohistiocytosis: importance of perforin in lymphocyte-mediated cytotoxicity and triggering of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Heterogeneity of immune markers in hemophagocytic lymphohistiocytosis: comparative study of 9 familial and 14 familial inheritance-unproved cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Treatment strategies for Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Low natural killer activity and central nervous system disease as a high-risk prognostic indicator in young patients with hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

No mutations of SAP/SH2D1A/DSHP and perforin genes in patients with Epstein-Barr virus-associated hemophagocytic syndrome in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.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.1365-2141.2003.04298.X

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Perforin: more than just an effector molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2003.04298.X

Familial hemophagocytic lymphohistiocytosis: how late can the onset be?

21 January 2018

1

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

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

28 December 2023

5

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

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

28 December 2023

9

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

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

28 December 2023

12

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

Familial hemophagocytic lymphohistiocytosis

28 December 2023

17

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

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

28 December 2023

18

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

On the pathogenesis of perforin defects and related immunodeficiencies

28 December 2023

20

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH)

28 December 2023

23

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

Immunologic dysregulation in a patient with familial hemophagocytic lymphohistiocytosis.

28 December 2023

24

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

28 December 2023

27

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

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

28 December 2023

28

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.2003.04298.X

28 December 2023

Identifiers

1 reference

6 August 2017

1 reference