Evidence map›Paper›PMID 36338154›Full record

ArticleMolecular genetics and metabolism reports2022

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.

Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F Dobrowolski, Miguel Reyes-Múgica, Kathryn S Torok and 3 more

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

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 47% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

13 authors at 2 institutions in 1 country.

Rachel WolfeDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Paige HeimanDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Olivia D'AnnibaleDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Anuradha KarunanidhiDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Alyssa PowersDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Marianne McguireUPMC Clinical Genomics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, PA, USA.
Bianca SeminottiDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Steven F DobrowolskiDivision of Clinical Chemistry, Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Miguel Reyes-MúgicaDivision of Clinical Chemistry, Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Kathryn S TorokDivision of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Al-Walid MohsenDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Jerry VockleyDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Lina Ghaloul-GonzalezDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
University of Pittsburgh · USMagee-Womens Hospital · US

Funding

Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General PopulationK08HG010490 · NHGRI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GHALOUL-GONZALEZ, LINA · 2019 to 2023
$910k
NHGRI NIH HHS K08 HG010490
6 · The paper itself

Abstract

Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the

Indexed as

ApoptosisAutoimmune diseaseDMEM, Dulbecco's Modified Eagle MediumE3 ligaseETC, Mitochondrial electron transport chainFAO, Fatty acid oxidationFOXP3, Forkhead box P3 proteinHECT, Homologous to the E6-Associated Protein C-TerminusIBD, Inflammatory Bowel DiseaseIF, Immunofluorescence analysisITCHMAVS, Mitochondrial antiviral signaling proteinMitochondrial dysfunctionNOTCH1, Notch receptor 1 proteinOCR, Oxygen consumption rateOXPHOS, Oxidative PhosphorylationTAX1BP1, TAX1-binding protein 1TFP, Trifunctional proteinTregs, T regulatory cellsTXNIP, Thioredoxin Interacting ProteinUbiquitinationUPS, Ubiquitin proteasome systemVLCAD, Very long-chain acyl-CoA dehydrogenase protein

Identifiers

PMID36338154
PMCPMC9634006
OpenAlexW4308148173

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.