ArticleClinical kidney journal2024
Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome.
Article in Clinical kidney journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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.
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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.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Genotype-phenotype correlation-driven precision management in hereditary conductive and mixed hearing loss.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.BMC nephrology · 2025Article
- A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.Clinical and experimental otorhinolaryngology · 2025Article
- Review
- Identification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case report.Frontiers in pediatrics · 2025Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Backgound: Branchiootorenal (BOR) syndrome is an autosomal dominant disorder caused by pathogenic Methods: Through thorough phenotyping and exome sequencing, we studied one family with disease presentation in at least four generations in both clinical and genetic terms. Functional investigation of the single associated Results: The Conclusion: In this study, we demonstrate pathogenicity of
Indexed as
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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.