|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process.
|
8622919 |
1996 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported.
|
10447383 |
1999 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11.
|
26968074 |
2016 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, we conclude this family has non-syndromic hearing loss (DFNB2) rather than USH1B, providing further evidence that these two diseases represent discrete disorders.
|
20132242 |
2010 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness.
|
23704327 |
2013 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11).
|
9927480 |
1999 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The missense mutations of USH1B significantly inhibited the actin activation of ATPase activity of myosin VIIa.
|
18700726 |
2008 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B).
|
16470552 |
2006 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss) presentation, instead of USH1B.
|
28472130 |
2017 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Laminar architecture of the central retina in MYO7A-USH1B ranged from normal to severely abnormal.
|
19074810 |
2009 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PURPOSE.To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations.METHODS.
|
21873662 |
2011 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
|
9002678 |
1997 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also show that subretinal delivery in pigs of dual AAV trans-splicing and hybrid vectors successfully reconstitute, albeit at variable levels, the expression of the large genes ABCA4 and MYO7A mutated in STGD and USH1B, respectively.
|
24572793 |
2014 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.
|
9703432 |
1998 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
|
9843659 |
1998 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
|
9070921 |
1997 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We analyzed a large consanguineous USH1 family from Morocco and linked the disease in this family to the MYO7A/USH1B locus.
|
17960123 |
2007 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa.
|
23991031 |
2013 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, given the absence of retinal disease in all affected patients examined, particularly a 28 year old patient, suggests that at least one family may segregate a DFNB2 presentation rather than USH1B.
|
24194196 |
2014 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I.
|
11992483 |
2002 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In 15 families myosin VIIA mutations were detected, verifying their classification as USH1B.
|
9382091 |
1997 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
Biomarker
|
disease |
MGD |
Mutation analysis of the mouse myosin VIIA deafness gene.
|
9680294 |
1997 |
|
USHER SYNDROME, TYPE IB (disorder)
|
0.700 |
Biomarker
|
disease |
MGD |
A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.
|
20016096 |
2009 |