(Q43146519)

English

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

scientific article published in April 2006

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scholarly article

1 reference

Europe PubMed Central

14 November 2017

0 references

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies (English)

1 reference

Europe PubMed Central

14 November 2017

Magnus Nordenskjöld

object named as

M Nordenskjöld

8

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7

object named as

B Fadeel

1 reference

Europe PubMed Central

14 November 2017

author name string

E Rudd

1

1 reference

Europe PubMed Central

14 November 2017

K Göransdotter Ericson

2

1 reference

Europe PubMed Central

14 November 2017

C Zheng

3

1 reference

Europe PubMed Central

14 November 2017

Z Uysal

4

1 reference

Europe PubMed Central

14 November 2017

A Ozkan

5

1 reference

Europe PubMed Central

14 November 2017

A Gürgey

6

1 reference

Europe PubMed Central

14 November 2017

J-I Henter

9

1 reference

Europe PubMed Central

14 November 2017

language of work or name

0 references

publication date

1 April 2006

1 reference

Europe PubMed Central

14 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

14 November 2017

43

1 reference

Europe PubMed Central

14 November 2017

4

1 reference

Europe PubMed Central

14 November 2017

e14

1 reference

Europe PubMed Central

14 November 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Perforin and lymphohistiocytic proliferative disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Coexistence of treatment-related MLL cleavage and rearrangement in a child with haemophagocytic lymphohistiocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Interplay of natural killer cells and their receptors with the adaptive immune response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Syntaxin 11 is an atypical SNARE abundant in the immune system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Induction of apoptosis and caspase activation in cells obtained from familial haemophagocytic lymphohistiocytosis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Secondary acute myeloid leukemia in children treated for acute lymphoid leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

Familial hemophagocytic lymphohistiocytosis. Clinical review based on the findings in seven children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

15 August 2018

Risk of etoposide-related acute myeloid leukemia in the treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

15 August 2018

Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563216

1 December 2018

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hemophagocytic lymphohistiocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myelodysplastic syndrome following epipodophyllotoxin therapy in familial hemophagocytic lymphohistiocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions

1 reference

https://pubmed.ncbi.nlm.nih.gov/16582076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.035253

1 reference

Europe PubMed Central

14 November 2017

1 reference

Europe PubMed Central

14 November 2017

1 reference

Europe PubMed Central

14 November 2017

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