BOR and BO syndromes are allelic defects of EYA1
C Vincent, V Kalatzis, S Abdelhak, H Chaïb… - European Journal of …, 1997 - karger.com
Abstract Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease
characterized by varying combinations of branchial, otic and renal anomalies. By positional …
characterized by varying combinations of branchial, otic and renal anomalies. By positional …
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further …
S Rickard, M Parker, W van't Hoff, A Barnicoat… - Human genetics, 2001 - Springer
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder involving hearing
loss, branchial defects, ear pits and renal abnormalities. Oto-facio-cervical (OFC) syndrome …
loss, branchial defects, ear pits and renal abnormalities. Oto-facio-cervical (OFC) syndrome …
BOR-Syndrome-Associated Eya1 Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein
A Musharraf, D Kruspe, J Tomasch, B Besenbeck… - PLoS …, 2014 - journals.plos.org
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 …
including branchio-oto (BO) and branchio-oto-renal (BOR) syndrome, as well as congenital …
The role of Six1 in mammalian auditory system development
W Zheng, L Huang, ZB Wei, D Silvius, B Tang, PX Xu - 2003 - journals.biologists.com
The homeobox Six genes, homologues to Drosophila sine oculis (so) gene, are expressed
in multiple organs during mammalian development. However, their roles during auditory …
in multiple organs during mammalian development. However, their roles during auditory …
Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
EH Chang, M Menezes, NC Meyer, RA Cucci… - Human …, 2004 - Wiley Online Library
EYA1 mutations cause branchio‐oto‐renal (BOR) syndrome. These mutations include single
nucleotide transitions and transversions, small duplications and deletions, and complex …
nucleotide transitions and transversions, small duplications and deletions, and complex …
Identification and Characterization of a Cryptic Genomic Deletion‐Insertion in EYA1 Associated with Branchio‐Otic Syndrome
H Zheng, J Xu, Y Wang, Y Lin, Q Hu, X Li… - Neural …, 2021 - Wiley Online Library
Branchio‐oto‐renal spectrum disorder (BORSD) is characterized by hearing loss
accompanied by ear malformations, branchial cysts, and fistulae, with (branchio‐oto‐renal …
accompanied by ear malformations, branchial cysts, and fistulae, with (branchio‐oto‐renal …
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome–case report
E Cacciatori, S Aleo, G Scuvera, C Rigon… - Italian Journal of …, 2022 - Springer
Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder
characterized by deafness, branchiogenic malformations and renal abnormalities …
characterized by deafness, branchiogenic malformations and renal abnormalities …
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
S Usami, S Abe, H Shinkawa, K Deffenbacher… - Journal of human …, 1999 - nature.com
Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are
responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This …
responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This …
Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear
D Zou, C Erickson, EH Kim, D Jin… - Human molecular …, 2008 - academic.oup.com
Haploinsufficiency of the transcription co-activator EYA1 causes branchio–oto–renal
syndrome, congenital birth defects that account for as many as 2% of profoundly deaf …
syndrome, congenital birth defects that account for as many as 2% of profoundly deaf …