Evidence map›Paper›PMID 31104071›Full record

ArticleJournal of Crohn's & colitis2019

Mosaic Tetrasomy 9p Associated With Inflammatory Bowel Disease.

Luis Sifuentes-Dominguez, Petro Starokadomskyy, Jacob Welch, Bhaskar Gurram, Jason Y Park, Prasad Koduru, Ezra Burstein

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Crohn's & colitis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 2 institutions in 1 country.

Luis Sifuentes-DominguezDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Petro StarokadomskyyDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Jacob WelchDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Bhaskar GurramDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Jason Y ParkDepartment of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Prasad KoduruDepartment of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Ezra BursteinDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
The University of Texas Southwestern Medical Center · USSouthwestern Medical Center · US

Funding

Role of the CCC complex in immune functionR01DK073639 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI BURSTEIN, EZRA · 2007 to 2020
$3.7M
ANTECEDANTS SEQUELAE OF CHILDHOOD ONSET DISEASEK12HD068369 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI SKAPEK, STEPHEN X · 2011 to 2020
$3.0M
NF-kB Signaling Insights from a Rare X-linked Immunodeficiency SyndromeR56AI113274 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI BURSTEIN, EZRA, ZINN, ANDREW R. · 2014 to 2014
$398k
NIAID NIH HHS R56 AI113274NICHD NIH HHS K12 HD068369NIDDK NIH HHS R01 DK073639
6 · The paper itself

Abstract

The genetic basis of inflammatory bowel disease remains to be elucidated completely. Here we report on a patient with inflammatory bowel disease who has mosaic tetrasomy of the short arm of chromosome 9, a genomic region that harbours the type I interferon gene cluster. We show that increased interferon activation is present in peripheral blood and intestinal tissue from this patient, similar to previous reports of autoinflammatory organ damage driven by interferon activation in other patients with this chromosomal abnormality. To our knowledge, this is the first case of tetrasomy 9p-associated interferonopathy driving intestinal inflammation and highlights the role that type-I interferon pathways can play in the pathogenesis of intestinal inflammation.

Indexed as

AneuploidyAntigensChildChromosomes, Human, Pair 9Cytoskeletal ProteinsFemaleHumansInflammatory Bowel DiseasesIn Situ Hybridization, FluorescenceIntestinal MucosaMosaicismAntigensCytoskeletal ProteinsIFI44 protein, humaninflammatory bowel diseaseinterferonopathyTetrasomy 9p

Identifiers

PMID31104071
PMCPMC6821155
OpenAlexW2946323040

What OpenQuestion holds

Textmetadata
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.