ArticleScience advances2022
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Registry-linked trialAbstract read
In one paragraph
Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 22 papers.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
–field-weighted citation impact
What it found
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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.
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
22 citing papers in PubMed.
- NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.Nature communications · 2026Article
- Article
- A 3'UTR polymorphism disrupts IRF2BP2 autoregulation through an eIF4H translational enhancer.Frontiers in genetics · 2026Article
- E3 ubiquitin ligases in neurodegenerative diseases.Military Medical Research · 2026Review
- ProteinsPlus: a publicly available resource for protein structure mining.Nucleic acids research · 2025Article
- Late-Onset Ataxia, Chorea, Cognitive Impairment, and Insomnia: Expanding the Phenotype of IRF2BPL-Related Disease.Journal of movement disorders · 2025Article
- Excess Wnt in neurological disease.The Biochemical journal · 2025Review
- Whole exome sequencing identified six novel genes for depressive symptoms.Molecular psychiatry · 2025Article
- An animal model recapitulates human hepatic diseases associated withProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Clinical characterization of IRF2BPL mutation: Case series and review of the literature.Medicine · 2025Review
- Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.Nature communications · 2024Article
- De novo variants of IRF2BPL result in developmental epileptic disorder.Orphanet journal of rare diseases · 2024Article
- Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.Frontiers in neuroscience · 2024Review
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Article
- A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.Nature metabolism · 2023Article
- Zebrafish as a Model Organism for Studying Pathologic Mechanisms of Neurodegenerative Diseases and other Neural Disorders.Cellular and molecular neurobiology · 2023Review
- Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report.BMJ neurology open · 2023Article
- Proteomes of Residual Tumors in Curcumin-Treated Rats Reveal Changes in Microenvironment/Malignant Cell Crosstalk in a Highly Invasive Model of Mesothelioma.International journal of molecular sciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors.
Paul C MarcoglieseDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-8011-7852
Debdeep DuttaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-0989-7013
Shrestha Sinha RayThe Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Nghi D P DangDepartment of Pharmacology and Toxicology, University of Alabama, Birmingham, AL 35294, USA.ORCID 0000-0002-9483-2099
Zhongyuan ZuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-4563-7921
Yuchun WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-0517-4344
Di LuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5621-9237
Fatima FazalDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Thomas A RavenscroftDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-3321-2619
Hyunglok ChungDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Oguz KancaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
JiJun WanDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Emilie D DouineDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Undiagnosed Diseases Network
Loren D M PenaDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.ORCID 0000-0001-8044-512X
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-2172-8036
Stanley F NelsonDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Matthew MightPrecision Medicine Institute, University of Alabama, Birmingham, AL 35294, USA.ORCID 0000-0002-8430-5316
Kathrin C MeyerThe Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.ORCID 0000-0002-5052-2101
Nan Cher YeoDepartment of Pharmacology and Toxicology, University of Alabama, Birmingham, AL 35294, USA.ORCID 0000-0002-6354-4115
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5992-5989
Funding
Tumor BiologyP30CA125123 · NCI · BAYLOR COLLEGE OF MEDICINE · PI DAVID R ROWLEY · 2007 to 2026
$73.9MCoordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2MUCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MIRJANA MALETIC-SAVATIC · 2020 to 2026
$9.9MNCI NIH HHS P30 CA125123NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007703NICHD NIH HHS P50 HD103555
Abstract
De novo truncations in
Indexed as
Drosophila ProteinsAnimalsCarrier ProteinsChildDrosophilaHumansInterferon Regulatory Factor-2Nuclear ProteinsProto-Oncogene ProteinsWnt1 ProteinWnt Signaling PathwayZebrafishCarrier ProteinsDrosophila ProteinsInterferon Regulatory Factor-2IRF2BPL protein, humanNuclear ProteinsProto-Oncogene ProteinsWnt1 Protein
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.