(Q46726634)

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The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. (English)

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

familial hemophagocytic lymphohistiocytosis 3

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author name string

Yaping Qian

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

Judith A Johnson

2

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Jessica A Connor

3

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

C Alexander Valencia

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

Nathaniel Barasa

5

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Jeffery Schubert

6

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Ammar Husami

7

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Diane Kissell

8

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Ge Zhang

9

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Matthew T Weirauch

10

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Alexandra H Filipovich

11

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Kejian Zhang

12

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

publication date

28 January 2014

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

Pediatric Blood Cancer

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Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

61

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24 December 2017

http://europepmc.org/abstract/MED/24470399

6

1 reference

Europe PubMed Central

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24 December 2017

http://europepmc.org/abstract/MED/24470399

1034-1040

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

Review of haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Hemophagocytic lymphohistiocytosis and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Hemophagocytic syndromes

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

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.24955

21 January 2018

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

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.24955

21 January 2018

X-linked lymphoproliferative syndromes: brothers or distant cousins?

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

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.24955

21 January 2018

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

An integrated encyclopedia of DNA elements in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

ENCODE data in the UCSC Genome Browser: year 5 update

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24955

21 January 2018

Identifiers

10.1002/PBC.24955

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

release_22hi3rmcfzh4zjxfoogcebjsqi

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24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/24470399

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