Evidence map›Paper›PMID 24808988›Full record

ArticleRare diseases (Austin, Tex.)2013

Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease).

Zhihui Xie, Vijayaraj Nagarajan, Daniel E Sturdevant, Shoko Iwaki, Eunice Chan, Laura Wisch, Michael Young, Celeste M Nelson, Stephen F Porcella, Kirk M Druey

Abstract read
In one paragraph

Article in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
2.3field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 37 citations in OpenAlex.

  1. Review
  2. Article
  3. Arteriosclerosis, thrombosis, and vascular biology · 2024
    Article
  4. Systemic capillary leak syndrome.Nature reviews. Disease primers · 2024
    Review
  5. Hypersensitive blood vessels in Clarkson disease.The Journal of clinical investigation · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Idiopathic systemic capillary leak syndrome (Clarkson disease).The Journal of allergy and clinical immunology · 2017
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 5 institutions in 2 countries.

Zhihui XieMolecular Signal Transduction Section; NIAID/NIH; Bethesda, MD USA.
Vijayaraj NagarajanComputational Biology Section; Bioinformatics and Computational Biosciences Branch; OCICB; NIAID/NIH; Bethesda, MD USA.
Daniel E SturdevantGenomics Unit, Research Technologies Section; Rocky Mountain Laboratories; NIAID/NIH, Hamilton, MT USA.
Shoko IwakiMolecular Signal Transduction Section; NIAID/NIH; Bethesda, MD USA.
Eunice ChanMolecular Signal Transduction Section; NIAID/NIH; Bethesda, MD USA.
Laura WischMolecular Signal Transduction Section; NIAID/NIH; Bethesda, MD USA.
Michael YoungClinical Research Directorate/CMRP; SAIC-Frederick, Inc; Frederick National Laboratory for Clinical Research; Frederick, MD USA.
Celeste M NelsonMolecular Signal Transduction Section; NIAID/NIH; Bethesda, MD USA.
Stephen F PorcellaGenomics Unit, Research Technologies Section; Rocky Mountain Laboratories; NIAID/NIH, Hamilton, MT USA.
Kirk M DrueyMolecular Signal Transduction Section; NIAID/NIH; Bethesda, MD USA.
National Institutes of Health · USFrederick Community College · USGenomics (United Kingdom) · GBNaval Research Laboratory Information Technology DivisionRocky Mountain Research (United States) · US

Funding

Infectious Diseases Research Technologies Core - RMLZICAI001052 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI CHERRY, JAMES · 2009 to 2025
$133.3M
Studies in the Pathogenesis of Systemic Capillary Leak SyndromeZIAAI001083 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI DRUEY, KIRK M · 2009 to 2025
$11.5M
CCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001E
6 · The paper itself

Abstract

The Systemic Capillary Leak Syndrome (SCLS) is an extremely rare, orphan disease that resembles, and is frequently erroneously diagnosed as, systemic anaphylaxis. The disorder is characterized by repeated, transient, and seemingly unprovoked episodes of hypotensive shock and peripheral edema due to transient endothelial hyperpermeability. SCLS is often accompanied by a monoclonal gammopathy of unknown significance (MGUS). Using Affymetrix Single Nucleotide Polymorphism (SNP) microarrays, we performed the first genome-wide SNP analysis of SCLS in a cohort of 12 disease subjects and 18 controls. Exome capture sequencing was performed on genomic DNA from nine of these patients as validation for the SNP-chip discoveries and de novo data generation. We identified candidate susceptibility loci for SCLS, which included a region flanking

Indexed as

cell adhesioncell junctioncytoskeletongenetics, genome-wide SNP studysystemic capillary leak syndromevascular permeability

Identifiers

PMID24808988
PMCPMC4009617
OpenAlexW2064526903

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.