Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11).
|
15221449 |
2004 |
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B).
|
20132242 |
2010 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
|
17960123 |
2007 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2.
|
28346292 |
2017 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
|
7870171 |
1995 |
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
Human myosin VIIA (HM7A) is responsible for human Usher syndrome type 1B, which causes hearing and visual loss in humans.Here we studied the regulation of HM7A.
|
26001786 |
2015 |
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11).
|
26968074 |
2016 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that involves deafness and vestibular dysfunction.
|
15965244 |
2005 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B).
|
16470552 |
2006 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the myosin VIIa gene (MYO7A) cause a major subtype of Usher syndrome, type 1B.
|
17268537 |
2007 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B).
|
28472130 |
2017 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, it has been shown that a gene encoding an unconventional myosin, myosin VIIA, underlies the mouse recessive deafness mutation, shaker-1 (ref.5) as well as Usher syndrome type 1b.
|
9171832 |
1997 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The discovery that the mouse shaker1 (Myo7(ash1)) locus encodes myosin VIIA led immediately to the identification of mutations in this gene in Usher syndrome type 1B; subsequently, mutations in this gene were also found associated with recessive and dominant nonsyndromic hearing loss (DFNB2 and DFNA11).
|
10704189 |
1999 |
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
The human myosin VIIA gene, located on 11q14, has been shown to be responsible for Usher syndrome type 1B (USH1B).
|
9382091 |
1997 |
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
To characterize the audiovestibular phenotype of DFNA11, an autosomal dominant nonsyndromic hearing impairment caused by a mutation in the myosin VIIA gene (MYO7A), including whether DFNA11-affected subjects have retinal degeneration as is characteristic of Usher syndrome type 1B, caused by different MYO7A mutations.
|
11889386 |
2002 |
Usher syndrome, type 1B
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives.
|
19074810 |
2009 |
Usher syndrome, type 1B
|
0.400 |
Biomarker
|
disease |
BEFREE |
Variants in the head and tail domains of the MYO7A gene, encoding myosin VIIA, cause Usher syndrome type 1B (USH1B) and nonsyndromic deafness (DFNB2, DFNA11).
|
24194196 |
2014 |