(Q35064189)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

familial hemophagocytic lymphohistiocytosis

0 references

juvenile rheumatoid arthritis

1 reference

based on heuristic

inferred from title

activation syndrome

1 reference

based on heuristic

inferred from title

macrophage activation syndrome

1 reference

based on heuristic

inferred from title

9

object named as

John B Harley

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

author name string

Kenneth M Kaufman

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Bolan Linghu

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Joseph D Szustakowski

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Ammar Husami

4

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Fan Yang

5

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Kejian Zhang

6

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Alexandra H Filipovich

7

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Ndate Fall

8

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

N R Nirmala

10

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Alexei A Grom

11

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

publication date

1 December 2014

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Europe PubMed Central

PubMed publication ID

6 August 2017

Arthritis & Rheumatology

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Europe PubMed Central

PubMed publication ID

6 August 2017

66

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Europe PubMed Central

PubMed publication ID

6 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

3486-3495

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

TRAIL: not just for tumors anymore?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Protecting a serial killer: pathways for perforin trafficking and self-defence ensure sequential target cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

The incidence of macrophage activation syndrome in children with rheumatic disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

MICALs in control of the cytoskeleton, exocytosis, and cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Pathogenesis of systemic juvenile idiopathic arthritis: some answers, more questions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Perforin is a critical physiologic regulator of T-cell activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

An FTS/Hook/p107(FHIP) complex interacts with and promotes endosomal clustering by the homotypic vacuolar protein sorting complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Secretory mechanisms in cell-mediated cytotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

ARF proteins: roles in membrane traffic and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 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=4321811

8 July 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=4321811

8 July 2018

Xin repeats define a novel actin-binding motif.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Natural killer cell dysfunction: A common pathway in systemic-onset juvenile rheumatoid arthritis, macrophage activation syndrome, and hemophagocytic lymphohistiocytosis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Macrophage activation syndrome: a potentially fatal complication of rheumatic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 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=4321811

8 July 2018

Juvenile rheumatoid arthritis as a complex genetic trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

Identification of the homologous beige and Chediak-Higashi syndrome genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

8 July 2018

A de novo paradigm for mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

27 September 2018

Hemophagocytic lymphohistiocytosis (HLH) and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321811

27 September 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=4321811

27 September 2018

Systemic onset juvenile rheumatoid arthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homeostatic regulation of CD8+ T cells by perforin

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is macrophage activation syndrome a new entity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile idiopathic arthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The diagnostic significance of soluble CD163 and soluble interleukin-2 receptor alpha-chain in macrophage activation syndrome and untreated new-onset systemic juvenile idiopathic arthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute hemorrhagic, hepatic, and neurologic manifestations in juvenile rheumatoid arthritis: possible relationship to drugs or infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997

1 reference

https://pubmed.ncbi.nlm.nih.gov/25047945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/ART.38793

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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