[图书][B] Structure-function analysis of the Six1/Eya transcriptional complex

A Patrick - 2009 - search.proquest.com
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder
characterized by hearing loss, branchial arch defects, and renal anomalies. Recently, eight …

[HTML][HTML] 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 …

[PDF][PDF] 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 …

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 …

In Search of Novel Genes in Branchio‐oto‐renal Spectrum Disorders

SA Moody - The FASEB Journal, 2016 - Wiley Online Library
Several members of the Six family of transcription factors play important roles in vertebrate
craniofacial development. Six1 is particularly important for the development of the cranial …

Analysis of craniofacial defects in Six1/Eya1-associated Branchio-Oto-Renal Syndrome

H Zhang, EYM Wong, SL Tsang, PX Xu… - ISDB 2013 International …, 2013 - hub.hku.hk
Branchio-Oto-Renal (BOR) syndrome patients exhibit craniofacial and renal anomalies as
well as deafness. BOR syndrome is caused by mutations in Six1 or Eya1, both of which …

Sobp is a novel Six1 co‐factor during inner ear development

A Tavares, K Jourdeuil, K Neilson… - The FASEB …, 2021 - Wiley Online Library
According to the CDC, the prevalence of hearing loss is 1.4 per 1000 babies screened in
2009 in the USA. Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder …

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 …

[HTML][HTML] Mutations in SIX1 associated with branchio-oto-renal syndrome (BOR) differentially affect otic expression of putative target genes

T Mehdizadeh, HD Majumdar, S Ahsan… - Journal of …, 2021 - mdpi.com
Several single-nucleotide mutations in SIX1 underlie branchio-otic/branchio-oto-renal (BOR)
syndrome, but the clinical literature has not been able to correlate different variants with …