(Q33702959)

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Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.

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18 March 2020

Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency (English)

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18 March 2020

4

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18 March 2020

Samuel C Chiang

7

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18 March 2020

Jeffrey S. Miller

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18 March 2020

Stephen K Anderson

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18 March 2020

11

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18 March 2020

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Frank Cichocki

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18 March 2020

Heinrich Schlums

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18 March 2020

Hongchuan Li

3

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18 March 2020

Timothy Holmes

5

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18 March 2020

Todd R Lenvik

6

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18 March 2020

Marie Meeths

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18 March 2020

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19 May 2014

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18 March 2020

Journal of Experimental Medicine

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18 March 2020

211

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18 March 2020

6

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18 March 2020

1079-1091

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18 March 2020

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4042637/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4042637/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma

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21 June 2018

STATs shape the active enhancer landscape of T cell populations

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21 June 2018

Regulating type 1 IFN effects in CD8 T cells during viral infections: changing STAT4 and STAT1 expression for function

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21 June 2018

The accessible chromatin landscape of the human genome

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Using formaldehyde-assisted isolation of regulatory elements (FAIRE) to isolate active regulatory DNA.

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21 June 2018

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

1 reference

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21 June 2018

Discrete roles of STAT4 and STAT6 transcription factors in tuning epigenetic modifications and transcription during T helper cell differentiation

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Histone modification levels are predictive for gene expression

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Perforin deficiency and susceptibility to cancer

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

High basal STAT4 balanced by STAT1 induction to control type 1 interferon effects in natural killer cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

Identification of a distant T-bet enhancer responsive to IL-12/Stat4 and IFNgamma/Stat1 signals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

T helper type 1-specific Brg1 recruitment and remodeling of nucleosomes positioned at the IFN-gamma promoter are Stat4 dependent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

The human model: a genetic dissection of immunity to infection in natural conditions

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

The human perforin gene is a direct target of STAT4 activated by IL-12 in NK cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

Chromatin-remodelling factor BRG1 selectively activates a subset of interferon-alpha-inducible genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

Cooperation between complexes that regulate chromatin structure and transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

Importance of the MKK6/p38 pathway for interleukin-12-induced STAT4 serine phosphorylation and transcriptional activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

21 June 2018

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

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Elf-1 contributes to the function of the complex interleukin (IL)-2-responsive enhancer in the mouse IL-2 receptor alpha gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

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Impaired IL-12 responses and enhanced development of Th2 cells in Stat4-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4042637

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Interleukin 12 induces tyrosine phosphorylation and activation of STAT4 in human lymphocytes

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

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20131131

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/10.1084%2FJEM.20131131

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Histone acetyltransferase complexes stabilize swi/snf binding to promoter nucleosomes.

1 reference

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Chromatin remodeling by the SWI/SNF-like BAF complex and STAT4 activation synergistically induce IL-12Rbeta2 expression during human Th1 cell differentiation

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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

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Variant form of STAT4 is associated with primary Sjögren's syndrome

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

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The implications of ENCODE for diagnostics

1 reference

https://pubmed.ncbi.nlm.nih.gov/24842371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1084/JEM.20131131

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24842371%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

PMC publication ID

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Europe PubMed Central

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18 March 2020

PubMed publication ID

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Europe PubMed Central

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18 March 2020

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