SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

RG Ruf, PX Xu, D Silvius, EA Otto… - Proceedings of the …, 2004 - National Acad Sciences
Urinary tract malformations constitute the most frequent cause of chronic renal failure in the
first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant …

[HTML][HTML] Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

BE Hoskins, CH Cramer, D Silvius, D Zou… - The American Journal of …, 2007 - cell.com
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder
characterized by the association of branchial arch defects, hearing loss, and renal …

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio‐oto‐renal syndrome calls into question the pathogenic role of …

P Krug, V Morinière, S Marlin, V Koubi… - Human …, 2011 - Wiley Online Library
Abstract Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder
characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been …

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 …

Branchio‐oto‐renal syndrome

A Kochhar, SM Fischer, WJ Kimberling… - American Journal of …, 2007 - Wiley Online Library
Branchio‐oto‐renal syndrome, a phenotype consisting of hearing loss, auricular
malformations, branchial arch remnants, and renal anomalies is now recognized as one of …

SIX1 mutation screening in 247 branchio‐oto‐renal syndrome families: a recurrent missense mutation associated with BOR

A Kochhar, DJ Orten, JL Sorensen, SM Fischer… - Human …, 2008 - Wiley Online Library
Branchio‐oto‐renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form
of syndromic hearing loss characterized by variable hearing impairment, malformations of …

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

S Abdelhak, V Kalatzis, R Heilig, S Compain… - Nature …, 1997 - nature.com
A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome
8q13. 3 by positional cloning and shown to underlie the disease. This gene is a human …

Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1

S Abdelhak, V Kalatzis, R Heilig… - Human molecular …, 1997 - academic.oup.com
Abstract Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder,
characterised by the association of branchial, otic and renal anomalies with variable …

Branchio‐oto‐renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR

DJ Orten, SM Fischer, JL Sorensen… - Human …, 2008 - Wiley Online Library
Branchio‐oto‐renal syndrome (BOR) is an autosomal dominant disorder characterized by
the association of branchial and external ear malformations, hearing loss, and renal …

Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio‐oto‐renal (BOR) syndrome

V Kalatzis, I Sahly, A El‐Amraoui… - … dynamics: an official …, 1998 - Wiley Online Library
Abstract Branchio‐Oto‐Renal (BOR) syndrome is an autosomal dominant, early
developmental defect characterised by varying combinations of branchial (fistulas, sinuses …