ArticleMolecular syndromology2023
Biallelic Novel
Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- USP53 regulates the AMPK pathway by deubiquitinating TJP2 to control the keloid-derived fibroblasts proliferation, invasion, and telomerase activity.Molecular and cellular biochemistry · 2026Article
- [Analysis of familial intrahepatic cholestasis caused by ubiquitin-specific peptidase 53 gene mutation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Article
- Etiology and clinical characteristics of infantile cholestasis: a single-center retrospective study of 326 cases.Frontiers in pediatrics · 2026Article
- Case Report: Mild BRIC-like cholestasis despite a grossFrontiers in genetics · 2025Article
- An Overview of the Deubiquitinase USP53: A Promising Diagnostic Marker and Therapeutic Target.Current protein & peptide science · 2024Review
- The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with NovelYonsei medical journal · 2023Article
- Article
- Ubiquitin-specific peptidases: Players in bone metabolism.Cell proliferation · 2023Review
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers an useful approach to differentiate different types of cholestasis because some symptoms and findings overlap. Biallelic variants in Methods: In this study, we aimed to characterize clinical findings and biological insights on a novel Results: We report a novel splice variant (NM_019050.2:c.238-1G>C) in the Conclusion: We propose a model for the tertiary structure of USP53 for the first time, and together with all these data, we support the association of biallelic variants of the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.