(Q53269824)

English

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).

scientific article published on 27 December 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

familial hemophagocytic lymphohistiocytosis

0 references

4

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

8

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

MacGregor Steele

5

object named as

Macgregor Steele

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

author name string

Christine A Macartney

1

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Sheila Weitzman

2

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Stephanie M Wood

3

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Marie Meeths

6

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Mohamed Abdelhaleem

7

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

publication date

27 December 2010

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Pediatric Blood Cancer

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Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

56

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Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

4

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

654-657

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

Hemophagocytic lymphohistiocytosis and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Hemophagocytic syndromes

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Functional analysis of human NK cells by flow cytometry.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.22676

21 January 2018

Identifiers

10.1002/PBC.22676

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 May 2018

http://europepmc.org/abstract/MED/21298754

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