ArticleBiology of the cell2010
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.
Article in Biology of the cell, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- TheFrontiers in medicine · 2025Review
- Haplotype analysis incorporating ancestral origins identified novel genetic loci associated with chicken body weight using an advanced intercross line.Genetics, selection, evolution : GSE · 2024Article
- Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2024Review
- Zmym4 is required for early cranial gene expression and craniofacial cartilage formation.Frontiers in cell and developmental biology · 2023Article
- Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes.Journal of developmental biology · 2021Article
- Retinoic acid production, regulation and containment through Zic1, Pitx2c and Cyp26c1 control cranial placode specification.Development (Cambridge, England) · 2021Article
- Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.Disease models & mechanisms · 2020Article
- Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.Orphanet journal of rare diseases · 2020Article
- Modeling congenital kidney diseases inDisease models & mechanisms · 2019Review
- Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.Medicine · 2017Article
- Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development.Developmental biology · 2017Article
- Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders.Comparative biochemistry and physiology. Toxicology & pharmacology : CBP · 2015Review
- The SIX1-EYA transcriptional complex as a therapeutic target in cancer.Expert opinion on therapeutic targets · 2015Review
- Early steps in inner ear development: induction and morphogenesis of the otic placode.Frontiers in pharmacology · 2015Review
- Transcriptional regulation of cranial sensory placode development.Current topics in developmental biology · 2015Review
- Establishing the pre-placodal region and breaking it into placodes with distinct identities.Developmental biology · 2014Review
- The EYA-SO/SIX complex in development and disease.Pediatric nephrology (Berlin, Germany) · 2013Review
- The Eyes Absent proteins in development and disease.Cellular and molecular life sciences : CMLS · 2013Review
- EYA1-SIX1 complex in neurosensory cell fate induction in the mammalian inner ear.Hearing research · 2013Review
- The pharmacokinetics of enrofloxacin in adult African clawed frogs (Xenopus laevis).Journal of the American Association for Laboratory Animal Science : JAALAS · 2010Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
background informationThe BOR (branchio-oto-renal) syndrome is a dominant disorder most commonly caused by mutations in the EYA1 (Eyes Absent 1) gene. Symptoms commonly include deafness and renal anomalies.
resultsWe have used the embryos of the frog Xenopus laevis as an animal model for early ear development to examine the effects of different EYA1 mutations. Four eya1 mRNAs encoding proteins correlated with congenital anomalies in human were injected into early stage embryos. We show that the expression of mutations associated with BOR, even in the presence of normal levels of endogenous eya1 mRNA, leads to morphologically abnormal ear development as measured by overall otic vesicle size, establishment of sensory tissue and otic innervation. The molecular consequences of mutant eya1 expression were assessed by QPCR (quantitative PCR) analysis and in situ hybridization. Embryos expressing mutant eya1 showed altered levels of multiple genes (six1, dach, neuroD, ngnr-1 and nt3) important for normal ear development.
conclusionsThese studies lend support to the hypothesis that dominant-negative effects of EYA1 mutations may have a role in the pathogenesis of BOR.
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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.