ArticleDisease models & mechanisms2020
Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.
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Article in Disease models & mechanisms, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25citing papers in PubMed
6.3field-weighted citation impact, top 3% of its field
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Who cites it
25 citing papers in PubMed, 37 citations in OpenAlex.
- SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.Development (Cambridge, England) · 2026Article
- Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.Journal of medical case reports · 2025Review
- Evolutionary analysis of genes associated with the sense of balance in semi-aquatic mammals.BMC ecology and evolution · 2025Article
- 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
- Shared features in ear and kidney development - implications for oto-renal syndromes.Disease models & mechanisms · 2024Article
- Small molecule-mediated reprogramming of Xenopus blastula stem cells to a neural crest state.Developmental biology · 2024Article
- A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.Clinical and experimental otorhinolaryngology · 2023Article
- Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Article
- Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.Scientific reports · 2023Article
- Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.Frontiers in genetics · 2023Article
- EctomesenchymalFrontiers in genetics · 2023Article
- Zmym4 is required for early cranial gene expression and craniofacial cartilage formation.Frontiers in cell and developmental biology · 2023Article
- Merkel Cell Carcinoma Sensitivity to EZH2 Inhibition Is Mediated by SIX1 Derepression.The Journal of investigative dermatology · 2022Article
- The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development.BMC bioinformatics · 2022Article
- Unexpected role ofJournal of medical genetics · 2022Article
- Genetic research progress in branchioZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- A novel heterozygousFrontiers in genetics · 2022Article
- Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development.Development (Cambridge, England) · 2021Article
- Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes.Journal of developmental biology · 2021Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Ankita M ShahDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Patrick KrohnDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Aparna B BaxiDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Andre L P TavaresDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Charles H SullivanDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Yeshwant R ChillakuruDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Himani D MajumdarDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Karen M NeilsonDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.ORCID http://orcid.org/0000-0001-8085-9242
Sally A MoodyDepartment of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA samoody@gwu.edu.ORCID http://orcid.org/0000-0003-4192-1087
George Washington University · USGrinnell College · USUniversity of Hohenheim · DE
Funding
Pathology, Developmental Origins, and Prevention of Pediatric DysphagiaP01HD083157 · NICHD · GEORGE WASHINGTON UNIVERSITY · PI LAMANTIA, ANTHONY S · 2015 to 2019
$6.4MResearch_ProjectU54HD090257 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI VITTORIO GALLO, VITTORIO GALLO VITTORIO GALLO · 2016 to 2020
$5.9MSix1 Co-factors in Craniofacial DevelopmentR01DE026434 · NIDCR · GEORGE WASHINGTON UNIVERSITY · PI ALFANDARI, DOMINIQUE R, MOODY, SALLY ANN · 2018 to 2022
$1.9MGene Regulation of Cranial Sensory Placode DevelopmentR01DE022065 · NIDCR · GEORGE WASHINGTON UNIVERSITY · PI MOODY, SALLY ANN · 2011 to 2015
$1.7MNICHD NIH HHS P01 HD083157NICHD NIH HHS U54 HD090257NIDCR NIH HHS R01 DE022065NIDCR NIH HHS R01 DE026434
Abstract
Single-nucleotide mutations in human
Indexed as
Gene Expression Regulation, DevelopmentalAmino Acid SequenceAnimalsBranchio-Oto-Renal SyndromeEarHEK293 CellsHomeodomain ProteinsHumansMutationNeural CrestOtolithic MembraneProtein Tyrosine PhosphatasesSkullTranscription, GeneticXenopus laevisXenopus ProteinsEya1 protein, XenopusHomeodomain ProteinsProtein Tyrosine PhosphatasesSIX1 protein, humanSix1 protein, XenopusXenopus ProteinsCranial placodesEya1Neural crestOtocystOtolithPreplacodal ectoderm
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Registered trials
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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.