|
Usher Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.
|
27409480 |
2016 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
|
10094549 |
1999 |
|
Usher Syndrome
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This homozygous MYO7A mutation underlies a remarkable 43% of indigenous African USH cases investigated in this study, the majority of which (60%) were diagnosed clinically with Type 2 USH.
|
26469752 |
2015 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we review the MYO5B gene and all currently known MYO5B mutations and for the first time methodologically categorize these with regard to functional protein domains and recurrence in MYO7A associated with Usher syndrome and other myosins.
|
24014347 |
2013 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because MYO7A, to our knowledge, has rarely been correlated with USH type 2, our findings therefore reveal distinguished clinical phenotypes associated with MYO7A.
|
24831256 |
2014 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results demonstrate that a lentiviral vector can accommodate a large cDNA, such as MYO7A, and mediate correction of important cellular functions in the retina, a major site affected in the Usher syndrome.
|
17268537 |
2007 |
|
Usher Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
|
12112664 |
2002 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.
|
16470552 |
2006 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.
|
16470552 |
2006 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As has been previously reported, MYO7A is the most frequently mutated gene in our USH type I patients while USH2A is the most mutated gene in our USH type II patients.
|
26338283 |
2015 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.
|
29287864 |
2018 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Myosin VIIa has been identified as the responsible gene for USH type 1B, and a number of missense mutations have been identified in the affected families.
|
18700726 |
2008 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting myosin-VIIa are known to cause deafness and blindness in human Usher syndrome.
|
10574757 |
1999 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Myosin VIIA, coded by <i>Myo7a</i>, has been identified as one of the causal genes of US.
|
29430167 |
2018 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Point mutations of MYO7A found in Usher syndrome patients weaken or even disrupt the multivalent interactions of the MYO7A/USH1C/USH1G complex and impair its phase separation.
|
31644917 |
2019 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
|
27828912 |
2017 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS.
|
29142287 |
2017 |
|
Usher Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
|
9718356 |
1998 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Human myosin VIIa (MYO7A) is an actin-linked motor protein associated with human Usher syndrome (USH) type 1B, which causes human congenital hearing and visual loss.
|
28507101 |
2017 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively.
|
15823922 |
2005 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing.
|
28731162 |
2017 |