EYA1 Antibody - N-terminal region (ARP32433_P050)
- Known as:
- EYA1 Antibody - N-terminal region (ARP32433_P050)
- Catalog number:
- arp32433_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- EYA1 Antibody - N-terminal region (ARP32433_P050)
Related genes to: EYA1 Antibody - N-terminal region (ARP32433_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 - N-terminal region (ARP32433_P050)
Related articles to: EYA1 Antibody - N-terminal region (ARP32433_P050)
- - Source: PubMed
Publication date: 2026/04/11
Sun LeiShu DefengHe WencongMa RuilinTao HuiYang ZejunLi YananLiu ZiyangZhang YangZhao Yin - Osteoporosis is a metabolic bone disorder characterized by reduced bone mass, impaired microarchitecture, and diminished bone strength, resulting in a significantly elevated risk of fractures. It is especially prevalent among older adults, particularly postmenopausal females, and profoundly impacts quality of life. In this study, we integrated osteoporosis-related single-cell RNA sequencing (scRNA-seq) and microarray datasets, to identify the autophagy-related gene , which is associated with osteoporosis. - Source: PubMed
Publication date: 2026/03/20
Lin ZhiyongCheng YueTang QianwenZheng HaoLi HuanjiLian Yongyun - Branchio-oto-renal (BOR) syndrome is characterized by branchiogenic malformation, hearing loss, and renal anomalies, with , , and known as the causative genes. As BOR syndrome presents with various clinical phenotypes, its characteristics and genotype-phenotype correlations remain unknown. - Source: PubMed
Publication date: 2026/03/17
Goto Shin-IchiSasaki AkiraNishio Shin-YaMorita Shin-YaOgasawara NorikoKobayashi YumikoAmano AkikoShinkawa ChikakoOda KiyoshiWada TetsuroIkezono TetsuoMatsuda HanFujisaka MichiroNagai KyokoYoshimura HidekaneKashio AkinoriNishiyama NobuhiroIto TakuTajima ShoriOka Shin-IchiroKaga KimitakaTakeda HidehikoKobayashi MarinaSano HajimeArai YasuhiroNakanishi HiroshiKoizumi HiromiObara NatsukoYoshida TadaoEsaki TomokoTakeuchi KazuhikoYamazaki HiroshiHorie RieOhta YumiMorimoto ChihiroUehara NatsumiNaito YasushiMaeda YukihideIshino TakashiEgusa KentaroSugahara KazumaTeraoka MasatoKondo EijiTsuchihashi NanaKihara ChiharuKanda YukihikoNakamura TakeshiMiyanohara IkuyoKondo ShunsukeUsami Shin-Ichi - Ménière's disease (MD) is a chronic inner ear disorder characterized by recurrent vertigo, fluctuating sensorineural hearing loss, and tinnitus. Despite these distinctive symptoms, its etiology remains poorly understood. We performed a genome-wide meta-analysis of 8,969 cases and 1,962,542 controls across five large biobanks, identifying five independent genome-wide significant loci and estimating an observed-scale SNP heritability of 7% (SE 0.8%), consistent with a modest but significant genetic contribution to MD risk. Fine-mapping and integrative functional analyses implicate two convergent biological processes - developmental regulation of the inner ear, involving , , and - and retinoic acid metabolism, with loci near and suggesting disrupted RA signaling in sensory and fluid-pressure homeostasis. These developmental regulator genes are robustly expressed in fetal and adult human inner ear cell types, supporting a model in which altered developmental programs predispose to adult vestibular and auditory dysfunction. Phenome-wide and genetic correlation analyses further reveal shared genetic architecture between MD and related traits, including vertigo, tinnitus, hearing loss, migraine, and sleep apnea, situating MD within a broader spectrum of sensory and neurological disorders. Collectively, these findings establish a genetic framework for Ménière's disease risk and implicate developmental regulators and retinoic acid signaling as key contributing pathways. - Source: PubMed
Publication date: 2026/02/11
Shi ZhuozhengMandla RaviLi JingjingLi XinzheZhang Zixuan EleanorChen SixingLapinska SandraFlynn-Carroll Alexander OPasaniuc BogdanEpstein Douglas JMathieson Iain - Microtia is a common feature of several human syndromes affecting the external ear (pinna), yet the cellular and molecular mechanisms remain poorly understood. Using human embryos and mouse models of branchio-oto-renal (BOR) and 22q11.2 deletion syndromes, we show that the syndromic genes Eya1 and Tbx1 are expressed in mesoderm-derived auricular muscle. In Eya1 mutant mice, auricular muscles failed to form and pinna morphogenesis was disrupted, with comparable defects observed in mesoderm-specific Tbx1 mutants. Both mutant pinnae exhibited impaired cartilage differentiation, suggesting that auricular muscle provides signals to the neural crest-derived mesenchyme to regulate cartilage differentiation. In contrast, defects in cartilage development alone or loss of muscle contraction did not affect early pinna morphogenesis. Auricular myocytes expressed Fgfs, while the surrounding mesenchyme expressed Fgfr1, Fgfr2 and ERM proteins. Disrupted Fgf signalling was observed in mutant cartilage and muscle. In ex vivo cultures, inhibition of Fgf or Bmp signalling recapitulated cartilage defects, whereas BMP4 restored Sox9 expression. These findings identify the mesoderm as essential for pinna initiation and morphogenesis, and reveal signalling mechanisms underlying microtia in BOR and 22q11.2 deletion syndromes. - Source: PubMed
Publication date: 2026/02/06
Fons Juan MSun YingKhonsari Roman HTucker Abigail S