|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
More recently, mutations in SIX1, which interacts with EYA1, were identified as an additional cause of BOR.
|
17357085 |
2007 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Further investigation is warranted regarding the contribution of SIX1 and SIX5 mutations to BOR syndrome in East Asian populations.
|
22447252 |
2012 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, (1) EYA1 mutations are a major cause of BOR syndrome in Japanese, (2) EYA1 and SIX1 mutations were not a major cause of BOR-related conditions, (3) we demonstrated for the first time that the point mutation (G>T) of the first base of the exon in EYA1 gene induced exon skipping.
|
16491411 |
2006 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
|
15141091 |
2004 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mice deficient for Six1 show severe defects in organs such as skeletal muscle, kidney, thymus, sensory organs and ganglia derived from cranial placodes, and mutations in human SIX1 cause branchio-oto-renal syndrome, an autosomal dominant developmental disorder characterized by hearing loss and branchial defects.
|
22659139 |
2012 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To date only three different SIX1 mutations have been described in BOR patients.
|
18330911 |
2008 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we describe the 2.0-Å structure of SIX1 bound to EYA2, which suggests a new DNA-binding mechanism for SIX1 and provides a rationale for the effect of BOR syndrome mutations.
|
23435380 |
2013 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome.
|
23840632 |
2013 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3.
|
18666230 |
2008 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Six1 is a crucial regulator of renal development: mutations in human SIX1 cause branchio-oto-renal (BOR) syndrome and Six1(-/-) mice exhibit renal agenesis, although the ureter is present.
|
20110314 |
2010 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our experiments demonstrate that the SIX1 BOR mutations contribute to the pathology of the disease through at least two different mechanisms that involve: 1) abolishing the formation of the SIX1-EYA complex or 2) diminishing the ability of SIX1 to bind DNA.
|
19497856 |
2009 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Further evaluation of SIX1 and its related target genes may provide a better understanding of the pathophysiology of BOR syndrome and offer greater clues to the disease mechanisms.
|
17238186 |
2007 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome).
|
16971658 |
2006 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
We examined six Danish families with BOR syndrome by assessing linkage to BOR loci, by performing EYA1 multiplex ligation-dependent probe amplification (MLPA) analysis for deletions and duplications and by sequencing of EYA1, SIX1 and SIX5.
|
17637804 |
2007 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
The current screen of 247 BOR families detected five novel SIX1 mutations (c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T) and one previously reported mutation (c.328C>T) seen in 5 unrelated families.
|
18330911 |
2008 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
|
15141091 |
2004 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis.
|
9770533 |
1998 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.
|
19389353 |
2009 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
|
24164807 |
2013 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
|
15141091 |
2004 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Taken together, our experiments demonstrate that the SIX1 BOR mutations contribute to the pathology of the disease through at least two different mechanisms that involve: 1) abolishing the formation of the SIX1-EYA complex or 2) diminishing the ability of SIX1 to bind DNA.
|
19497856 |
2009 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
The role of Six1 in mammalian auditory system development.
|
12874121 |
2003 |
|
Branchio-Oto-Renal Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.
|
21254961 |
2011 |