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 …

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations

AN Patrick, BJ Schiemann, K Yang, R Zhao… - Journal of biological …, 2009 - ASBMB
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder
characterized by hearing loss, branchial arch defects, and renal anomalies. Recently, eight …

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 …

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 …

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 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 …

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10

Y Zhang, BM Knosp, M Maconochie… - Journal of the …, 2004 - Springer
Allele variants of EYA1 and EYA4, two members of the vertebrate Eya gene family, underlie
two types of inherited human deafness, branchio-oto-renal (BOR) syndrome and DFNA10 …

Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins

H Ozaki, Y Watanabe, K Ikeda… - Journal of human genetics, 2002 - nature.com
Mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome as well
as for other ocular defects. Most of the mutations are located within or in the vicinity of the …

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

S Kumar, K Deffenbacher, CWRJ Cremers… - Genetic …, 1997 - liebertpub.com
The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized
by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. The BOR gene …

Identification of three novel mutations in human EYA1 protein associated with branchio‐oto‐renal syndrome

S Kumar, WJ Kimberling, MD Weston… - Human …, 1998 - Wiley Online Library
The Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder characterized
by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies …