|
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 |
By analyzing the sequencing data of these two patients, four novel MYO7A mutations were revealed: (i) MYO7A p.Tyr560Ser and p.Ala2039Pro were associated with Usher syndrome 1B.
|
30826590 |
2019 |
|
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, 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 |
In this study, a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1.
|
29287847 |
2018 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.
|
29605349 |
2018 |
|
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 |
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 |
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 |
|
Usher Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
|
28944237 |
2017 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.
|
28439001 |
2017 |
|
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 |
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 |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
|
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 |
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 |
Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.
|
25605753 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
|
25404053 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ten variants in the MYO7A gene and 34 variants in the USH2A gene were detected in Italian patients with USH at a high detection rate.
|
25558175 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
|
24831256 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
|
25080338 |
2014 |
|
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 |