Article

Mutations in SIX1 associated with Branchio-oto-renal Syndrome (BOR) differentially affect otic expression of putative target genes

2021-06-11

Abstract excerpt

<h4>ABSTRACT</h4> Single nucleotide mutations in SIX1 are causative in some individuals diagnosed with branchio-otic/branchio-oto-renal (BOR) syndrome. To test whether these mutations have differential effects on otic gene expression, we engineered four BOR mutations in Xenopus six1 and targeted mutant protein expression to the neural crest and cranial placode precursor cells in wild-type embryos. Changes in th...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1b6c92a5-188d-5141-a182-82ae0d486516
DOI: 10.1101/2021.06.11.447956

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations in SIX1 associated with Branchio-oto-renal Syndrome (BOR) differentially affect otic expression of putative target genesDOI 10.1101/2021.06.11.447956Read

Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.Semantic proximity Read

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.Semantic proximity Read

Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial developmentSemantic proximity Read

SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.Semantic proximity Read

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.Semantic proximity Read

Sobp modulates Six1 transcriptional activation and is required during craniofacial developmentSemantic proximity Read

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.Semantic proximity Read

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.Semantic proximity Read

Branchio-oto-renal syndrome.Semantic proximity Read

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.Semantic proximity Read

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.Semantic proximity Read

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.Semantic proximity Read