|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The compound heterozygosity identified in gene MYO7A causes Usher Syndrome 1B with severe phenotypes.
|
22898263 |
2012 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
|
21873662 |
2011 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.
|
21709241 |
2011 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MYO7A (myosin VIIa) cause Usher syndrome type 1B, a disorder involving profound congenital deafness and progressive blindness.
|
21936790 |
2011 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf-blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]).
|
21031134 |
2010 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
|
18181211 |
2008 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using the Universal Mutation Database (UMD) software, we have constructed "UMD-USHbases", a set of relational databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A).
|
18484607 |
2008 |
|
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 |
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
|
17361009 |
2007 |
|
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 |
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 |
LHGDN |
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 |
Biomarker
|
disease |
CTD_human |
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics.
|
15965244 |
2005 |
|
Usher Syndrome
|
0.500 |
Biomarker
|
disease |
LHGDN |
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics.
|
15965244 |
2005 |
|
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 |
With the novel mutation reported here, the total number of USH causing mutations in the MYO7A gene described to date reaches to 75.
|
15592175 |
2004 |
|
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 |
CLINVAR |
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
|
10930322 |
2000 |
|
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 |
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 |
The ongoing studies of myosin-VIIa, the USH2A protein, and the yet to be identified proteins encoded by the other USH genes will advance understanding of the Usher syndromes and contribute to the development of effective therapies.Am.J. Med.Genet.(Semin.Med.Genet.)89:158-166, 1999.
|
10704190 |
1999 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
So far, eight genes responsible for US have been mapped, of which only the gene responsible for the most common form, USH1B, has been identified.
|
9761396 |
1998 |