Evidence map›Paper›PMID 33122718›Full record

ArticleScientific reports2020

The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.

Neel Dhingani, Conghui Guo, Jie Pan, Qi Li, Neil Warner, Sasha Jardine, Gabriella Leung, Daniel Kotlarz, Claudia Gonzaga-Jauregui, Christoph Klein and 3 more

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

Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

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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

13 authors at 7 institutions in 4 countries.

Neel DhinganiDepartment of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Conghui GuoSickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
Jie PanSickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
Qi LiSickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
Neil WarnerSickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
Sasha JardineDepartment of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Gabriella LeungSickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
Daniel KotlarzDepartment of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
Christoph KleinDepartment of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
Scott B SnapperDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Víctor Manuel Navas-LópezPediatric Gastroenterology and Nutrition Unit, IBIMA, Hospital Regional Universitario de Málaga, Málaga, Spain. victor.navas@gmail.com.
Aleixo M MuiseDepartment of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. aleixo.muise@utoronto.ca.
SickKids Foundation · CALudwig-Maximilians-Universität München · DEBoston Children's Hospital · USHospital for Sick Children · CAHospital Regional Universitario de Málaga · ESRegeneron (United States) · USUniversity of Toronto · CA

Funding

COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepositoryRC2DK118640 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI James Richard Goldenring, Izumi Kaji · 2019 to 2026
$14.8M
CIHRNIDDK NIH HHS RC2 DK118640
6 · The paper itself

Abstract

Very early onset inflammatory bowel disease (VEOIBD) denotes children with onset of IBD before six years of age. A number of monogenic disorders are associated with VEOIBD including tetratricopeptide repeat domain 7A (TTC7A) deficiency. TTC7A-deficiency is characterized by apoptotic colitis in milder cases with severe intestinal atresia and immunodeficiency in cases with complete loss of protein. We used whole exome sequencing in a VEOIBD patient presenting with colitis characterized by colonic apoptosis and no identified known VEOIBD variants, to identify compound heterozygous deleterious variants in the Ubiquitin protein ligase E3 component N-recognin 5 (UBR5) gene. Functional studies demonstrated that UBR5 co-immunoprecipitates with the TTC7A and the UBR5 variants had reduced interaction between UBR5 and TTC7A. Together this implicates UBR5 in regulating TTC7A signaling in VEOIBD patients with apoptotic colitis.

Indexed as

Age of OnsetAmino Acid SequenceChild, PreschoolHumansInflammatory Bowel DiseasesMaleProtein BindingProteinsSequence Homology, Amino AcidSignal TransductionUbiquitin-Protein LigasesProteinsTTC7A protein, humanUbiquitin-Protein LigasesUBR5 protein, human

Identifiers

PMID33122718
PMCPMC7596066
OpenAlexW3094635236

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.