EYA1 antibody - middle region (ARP32434_P050)
- Known as:
- EYA1 (anti-) - middle region (ARP32434_P050)
- Catalog number:
- arp32434_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- EYA1 antibody - middle region (ARP32434_P050)
Related genes to: EYA1 antibody - middle region (ARP32434_P050)
- Gene:
- EYA1 NIH gene
- Name:
- EYA transcriptional coactivator and phosphatase 1
- Previous symbol:
- BOR
- Synonyms:
- -
- Chromosome:
- 8q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1996-12-12
- Date modifiied:
- 2015-09-11
Related products to: EYA1 antibody - middle region (ARP32434_P050)
Related articles to: EYA1 antibody - middle region (ARP32434_P050)
- : Branchio-oto syndrome (BOS) is an autosomal dominant disorder primarily associated with pathogenic variants in , mainly characterized by branchial anomalies, auricular abnormalities, and hearing loss. However, the co-occurrence of inner ear malformations in BOS remains understudied, especially severe malformations. This study aimed to investigate the clinical and genetic characteristics of patients with -associated BOS, with emphasis on cochlear nerve deficiency (CND). : From January 2020 to April 2026, patients diagnosed with -associated BOS at an otology outpatient clinic in a tertiary hospital were included. Clinical manifestations, audiological assessments, imaging and genetic findings were analyzed. : Thirteen patients (six females and seven males) from eight unrelated families aged 0.3-58.3 years were enrolled. Branchial cleft fistulas and preauricular pits were each observed in 76.9% (10/13) of patients. The mean pure-tone average was 74.3 ± 20.7 dB HL. Eight variants (four truncating, two large deletions, and two splicing) were identified. Among these, five were novel (c.320_329del, c.518del, c.1307dupT, c.1475+1G>A, and exon 12-18 deletion). CND was detected in 38.5% (5/13) of patients and 26.9% (7/26) of ears. Patients with CND carried either truncating variants ( = 3) or large deletions ( = 2) of . No CND was observed in patients with splicing variants. : This study identifies five novel pathogenic variants and suggests that CND may be a relatively common radiologic feature in -associated BOS, particularly among patients with truncating variants or large deletions, although larger studies are needed to confirm this association. - Source: PubMed
Publication date: 2026/08/06
Niu YirongLin YunYu JialiZhao HuanhuanZhao YutingChen JieSun YingAn ZeqiWang MengpingHan KunWu HaoLi YunWang ZhiliChen Ying - Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition characterized by variable malformations including hearing loss and renal dysfunction. Variants in SIX1 or its activating co-factor EYA1 are causative in about 50% of patients. Some patients carrying BOR variants also present with craniosynostosis, indicating that cranial skeletal dysmorphologies could be an under-diagnosed feature. To date, most studies on the role of SIX1 have focused on its role in the cranial placode-based development of the inner ear, whereas its role in the neural crest cells of the mandibular arch, which will give rise to the jaws and middle ear ossicles, is less well characterized. Here, we present novel expression profiles of three putative SIX1 co-factors (PA2G4, MCRS1, and SOBP) in the developing mouse first pharyngeal arch and tooth. SIX1 colocalizes with PA2G4, MCRS1, and SOBP within the oral domain of the mandibular arch and during odontogenesis, although each exhibits a distinct expression pattern. Functional analyses revealed that SOBP binds SIX1, EYA1, and EYA2 and represses both SIX1 + EYA1 and SIX1 + EYA2 transcriptional activity, whereas MCRS1 binds only SIX1 and selectively represses SIX1 + EYA2 activity. In contrast, PA2G4 does not bind SIX1, yet modulates SIX1 + EYA2 activity. We further show that SIX1 is required for proper expression of Pa2g4, Mcrs1, and Sobp in the mouse mandibular arch. Collectively, these results demonstrate that regulation of SIX1 + EYA transcriptional activity is highly context dependent, occurs through both direct and indirect mechanisms, and differs between SIX1 + EYA1 and SIX1 + EYA2 complexes. These findings reveal species-specific differences and uncover a level of regulatory complexity not previously identified in Xenopus studies. - Source: PubMed
Publication date: 2026/07/16
Jourdeuil KarynChukwuocha KelechiGafurova JasminaBen-Mayor AshleyMoody Sally ATavares Andre L P - Osteoarthritis (OA) involves progressive extracellular matrix (ECM) degradation in articular cartilage. We previously revealed that the mA demethylase ALKBH5 stabilizes Runx2 mRNA in chondrocytes via YTHDF1, thereby increasing MMP and ADAMTS expression, causing ECM degradation. However, the transcriptional co-regulators of Runx2 remain unidentified. - Source: PubMed
Publication date: 2026/06/16
Nie GuanghuaLi YiZhao HongmouWang DongZhang YanYang XinquanWen Xiaodong - Ménière disease (MD) is a chronic inner ear disorder characterized by recurrent vertigo, fluctuating sensorineural hearing loss, and tinnitus, but its etiology remains poorly understood. We performed a genome-wide meta-analysis of 8,969 MD case subjects and 1,962,542 control subjects across five biobanks, identifying five independent genome-wide significant loci and estimating an observed-scale SNP heritability of 7% (SE 0.8%), indicating a modest but significant contribution of common genetic variation to MD risk. The genome-wide significant signals comprise two independent variants at EYA4, two at EYA1, and one near CYP26A1, with odds ratios between 1.1 and 1.25. Associations at two additional loci, LMO4 and ALDH1A2, fell just below the genome-wide significance threshold (5 × 10 Publication date: 2026/06/16
Shi ZhuozhengMandla RaviLi JingjingLi XinzheZhang Zixuan EleanorChen SixingLapinska SandraFlynn-Carroll Alexander OPasaniuc BogdanEpstein Douglas JMathieson Iain - SIX1 variants underlying branchio-oto-renal syndrome occur in the SIX domain (SD) or homeodomain (HD). We tested whether different variants - V17E (SD), Y129C (HD) - cause distinct developmental phenotypes in Xenopus embryos with reduced Six1 in comparison to wild-type Six1 (Six1WT). In Six1 morphants, Six1WT restored neural crest and preplacodal gene expression; V17E restored foxd3 and irx1 better than Y129C, and Y129C restored sox11 better than V17E. In six1-null otic vesicles, Six1WT partially restored tbx1 and sobp, V17E was less effective and Y129C was least effective; all three restored dlx5. In six1 heterozygotes, Six1WT and Y129C had similar pleiotropic effects on tbx1, whereas V17E had no effect; Six1WT restored dlx5 expression, V17E was less effective and Y129C was most deficient. In six1-null tadpoles, reduced cranial cartilage volume and individual cartilage abnormalities were rescued by Six1WT, less so by V17E and not by Y129C. In heterozygotes and wild types, Y129C caused a higher frequency of abnormal cartilages compared to Six1WT or V17E. Thus, variants with different functional deficits have distinguishable effects in both nulls and heterozygotes on the formation of the tissues affected in branchio-oto-renal syndrome. - Source: PubMed
Publication date: 2026/07/06
Coppenrath KelseyShaidani Nikko-IdeenNaert ThomasMajumdar Himani DHorb MarkoLienkamp Soeren SKlein Steven LMoody Sally A