OBJECTIVE To summarize the syndromic features and evaluate the presence of inner ear anomalies in 35 patients with branchio-oto-renal (BOR) syndrome from 6 families. DESIGN Retrospective evaluation of magnetic resonance imaging of the temporal bones and clinical features in patients with BOR syndrome. SETTING Tertiary referral center. PATIENTS The study population comprised 35 clinically ...

Boron (B) is an essential micronutrient for plants but is toxic when accumulated in excess. The plant BOR family encodes plasma membrane-localized borate exporters (BORs) that control translocation and homeostasis of B under a wide range of conditions. In this study, we examined the evolutionary divergence of BORs among terrestrial plants and showed that the lycophyte Selaginella moellendorffii...

Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this sy...

Eyes absent (EYA) proteins are defined by a conserved C-terminal EYA domain (ED) that both contributes to its function as a transcriptional coactivator by mediating protein-protein interactions and possesses intrinsic protein tyrosine phosphatase activity. Mutations in human EYA1 result in an autosomal dominant disorder called branchio-oto-renal (BOR) syndrome as well as congenital cataracts an...

background and objectives: the large contribution of hospitals to the function and expenditures of the healthsector makes their constant monitoring and evaluation inevitable to improve the overall performance of the health system. built on that, the present study aimed to evaluate the trend of performance of hospitals affiliated with the public hospitals (in guilan province, iran) affiliated wi...

Mutations in the human EYA1 gene have been associated with several human diseases including branchio-oto (BO) and branchio-oto-renal (BOR) syndrome, as well as congenital cataracts and ocular anterior segment anomalies. BOR patients suffer from severe malformations of the ears, branchial arches and kidneys. The phenotype of Eya1-heterozygous mice resembles the symptoms of human patients sufferi...

Colibacillosis accounts for annual multimillion dollar losses in the poultry industry, and control of this disease is hampered by limited understanding of the virulence mechanisms used by avian pathogenic Escherichia coli (APEC). Previous work in our laboratory has found that the presence of the increased serum survival gene (iss) is strongly associated with APEC but not commensal E. coli, maki...

BACKGROUND One of the most important and useful models for assessing hospital performance is the Pabon Lasso Model, a graphical model that determines the relative performance of hospitals using three indicators: 1. Bed Occupancy Rate (BOR); 2. Bed Turnover (BTO); 3) Average Length of Stay (ALS). The aim of this research is to investigate the performance of the hospitals affiliated with Urmia Un...

BACKGROUND Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oculis, encoding a DNA binding protein interacting with EYA1, have been reported less frequently. Re...

We use the eta invariant to compute the equivariant spin bor-dism groups spin 5