Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis.

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Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis.

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http://www.wikidata.org/entity/Q50159971

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Novel UNC13D intronic variant ...... juvenile idiopathic arthritis.

@en

Novel UNC13D intronic variant ...... juvenile idiopathic arthritis.

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Item

label

Novel UNC13D intronic variant ...... juvenile idiopathic arthritis.

@en

Novel UNC13D intronic variant ...... juvenile idiopathic arthritis.

@nl

prefLabel

Novel UNC13D intronic variant ...... juvenile idiopathic arthritis.

@en

Novel UNC13D intronic variant ...... juvenile idiopathic arthritis.

@nl

P1476

Brief Report: Novel UNC13D Int ...... Juvenile Idiopathic Arthritis

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P2093

Alexei A Grom

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Ammar Husami

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Grant S Schulert

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Hermine Brunner

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Kejian Zhang

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Mingce Zhang

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Ndate Fall

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P2860

Regulation of cell-type-specific interleukin-2 receptor alpha-chain gene expression: potential role of physical interactions between Elf-1, HMG-I(Y), and NF-kappa B family proteins

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

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

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

Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis

The limited role of interferon-γ in systemic juvenile idiopathic arthritis cannot be explained by cellular hyporesponsiveness

Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.

A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment.

Reaching the threshold: a multilayer pathogenesis of macrophage activation syndrome.

P304

963-970

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P31

scholarly article

P356

10.1002/ART.40438

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P433

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P478

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P50

Randy Quentin Cron

P577

2018-05-02T00:00:00Z

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P698

29409136

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P921

juvenile rheumatoid arthritis

P932

5984660

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