Title |
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
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Published in |
BMC Nephrology, March 2013
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DOI | 10.1186/1471-2369-14-60 |
Pubmed ID | |
Authors |
Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno, Sterpeta Diella, Francesca Bruno, Giuseppe S Netti, Elena Ranieri, Giovanni Stallone, Barbara Infante, Giuseppe Grandaliano, Loreto Gesualdo |
Abstract |
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. Recently, mutations in another SIX family member, SIX5, have been described in BOR patients, however, this association has not been confirmed by other groups. |
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Geographical breakdown
Country | Count | As % |
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Unknown | 22 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 4 | 18% |
Other | 3 | 14% |
Researcher | 3 | 14% |
Professor > Associate Professor | 2 | 9% |
Other | 1 | 5% |
Unknown | 5 | 23% |
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Biochemistry, Genetics and Molecular Biology | 1 | 5% |
Other | 2 | 9% |
Unknown | 4 | 18% |