Associated Papers
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.
Sorusch N et al.
Frontiers in Cell and Developmental Biology, 2019
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Krawitz PM et al.
Molecular Genetics & Genomic Medicine, 2014
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Imtiaz F et al.
Molecular Vision, 2012
An update on the genetics of usher syndrome.
Millán JM et al.
Journal of Ophthalmology, 2011
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Rizel L et al.
Molecular Vision, 2011
A frameshift mutation in SANS results in atypical Usher syndrome.
Bashir R et al.
Clinical Genetics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Weil D et al.
Human Molecular Genetics, 2003
Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
Maria Oonk AM et al.
Ear and Hearing, 0
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E et al.
Ear and Hearing, 0
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