Research graph
References from Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1016/s0140-6736(06)69740-7
10.1016/s0140-6736(06)69740-7 · External reference
10.1002/humu.22608
10.1002/humu.22608 · External reference
Unresolved reference
2012 · External reference
10.1016/j.heares.2016.06.008
10.1016/j.heares.2016.06.008 · External reference
Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
10.1016/j.ophtha.2016.01.021 · 2016 · External reference
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F
10.1002/ajmg.a.37003 · 2015 · External reference
Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data
10.1080/13816810.2017.1418388 · 2018 · External reference
10.1136/jmg.2006.041764
10.1136/jmg.2006.041764 · External reference
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
10.1186/1750-1172-6-65 · 2011 · External reference
10.1038/ejhg.2014.283
10.1038/ejhg.2014.283 · External reference
10.1136/jmg.2009.075143
10.1136/jmg.2009.075143 · External reference
Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes
10.1021/bi050245u · 2005 · External reference
10.1242/jcs.00850
10.1242/jcs.00850 · External reference
10.1093/hmg/ddt629
10.1093/hmg/ddt629 · External reference
10.1523/jneurosci.0342-07.2007
10.1523/jneurosci.0342-07.2007 · External reference
10.1093/hmg/ddi490
10.1093/hmg/ddi490 · External reference
10.1371/journal.pgen.1000955
10.1371/journal.pgen.1000955 · External reference
10.1073/pnas.0610950104
10.1073/pnas.0610950104 · External reference
Usher protein functions in hair cells and photoreceptors
10.1016/j.biocel.2013.11.001 · 2013 · External reference
10.1093/hmg/ddl205
10.1093/hmg/ddl205 · External reference
10.1016/j.bbadis.2014.11.020
10.1016/j.bbadis.2014.11.020 · External reference
10.1016/j.exer.2005.11.010
10.1016/j.exer.2005.11.010 · External reference
10.1016/j.visres.2007.08.015
10.1016/j.visres.2007.08.015 · External reference
Usherin defects lead to early-onset retinal dysfunction in zebrafish
10.1016/j.exer.2018.05.015 · 2018 · External reference
10.1007/s00439-018-1936-6
10.1007/s00439-018-1936-6 · External reference
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
2020 · External reference
Identification of novel USH2A mutations: implications for the structure of USH2A protein
10.1038/sj.ejhg.5200491 · 2000 · External reference
10.1006/exer.2000.0978
10.1006/exer.2000.0978 · External reference
10.1086/302855
10.1086/302855 · External reference
10.1038/sj.ejhg.5201138
10.1038/sj.ejhg.5201138 · External reference
10.1016/j.exer.2004.03.005
10.1016/j.exer.2004.03.005 · External reference
10.1101/2020.02.04.934240
10.1101/2020.02.04.934240 · External reference
In vivo assessment of potential therapeutic approaches for USH2A-associated diseases
10.1007/978-3-030-27378-1_15 · 2019 · External reference
Unresolved reference
External reference
10.1074/jbc.m204306200
10.1074/jbc.m204306200 · External reference
10.1074/jbc.m109.026658
10.1074/jbc.m109.026658 · External reference
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle
2015 · External reference
10.1093/molbev/mst012
10.1093/molbev/mst012 · External reference
10.1093/molbev/msy096
10.1093/molbev/msy096 · External reference
10.1093/nar/gku340
10.1093/nar/gku340 · External reference
10.1093/nar/gkw1132
10.1093/nar/gkw1132 · External reference
10.1093/nar/gky427
10.1093/nar/gky427 · External reference
10.1002/prot.22588
10.1002/prot.22588 · External reference
10.1093/hmg/ddr503
10.1093/hmg/ddr503 · External reference
10.1038/nprot.2010.5
10.1038/nprot.2010.5 · External reference
10.1016/j.drudis.2009.06.007
10.1016/j.drudis.2009.06.007 · External reference
10.1016/s0006-3495(98)77529-0
10.1016/s0006-3495(98)77529-0 · External reference
alpha(V)beta(3) integrin crystal structures and their functional implications
10.1021/bi300734n · 2012 · External reference
10.1126/science.1255149
10.1126/science.1255149 · External reference
Characterization of a spontaneous mouse retinal pigment epithelial cell line B6-RPE07
10.1167/iovs.07-1522 · 2008 · External reference
10.1172/jci43758
10.1172/jci43758 · External reference
10.1146/annurev-cellbio-100109-104020
10.1146/annurev-cellbio-100109-104020 · External reference
10.1086/383096
10.1086/383096 · External reference
The genetics of usher syndrome in the israeli and palestinian populations
10.1167/iovs.17-22817 · 2018 · External reference
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
10.1136/jmedgenet-2011-100468 · 2012 · External reference
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families
10.1002/(sici)1098-1004(200004)15:4<388::aid-humu27>3.0.co;2-n · 2000 · External reference
10.1089/gte.2007.0107
10.1089/gte.2007.0107 · External reference
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
10.1186/s13023-015-0329-3 · 2015 · External reference
Phenotypes in defined genotypes including siblings with Usher syndrome
10.3109/13816810.2010.536064 · 2011 · External reference
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II
10.1002/humu.9259 · 2004 · External reference
Molecular epidemiology of Usher syndrome in Italy
2011 · External reference
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
10.1002/mgg3.92 · 2014 · External reference
Usher syndrome in Denmark: mutation spectrum and some clinical observations
10.1002/mgg3.228 · 2016 · External reference
10.1086/302926
10.1086/302926 · External reference
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
2010 · External reference
10.1136/jmg.40.1.e8
10.1136/jmg.40.1.e8 · External reference
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
10.1016/j.ajhg.2016.12.003 · 2017 · External reference
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
10.1038/ejhg.2013.72 · 2014 · External reference
Electroretinography reveals difference in cone function between syndromic and nonsyndromic USH2A patients
10.1038/s41598-017-11679-y · 2017 · External reference
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
2015 · External reference
NGS-based Molecular diagnosis of 105 eyeGENE((R)) probands with Retinitis Pigmentosa
10.1038/srep18287 · 2015 · External reference
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family
2010 · External reference
Panel-based NGS reveals novel pathogenic mutations in autosomal recessive retinitis pigmentosa
10.1038/srep19531 · 2016 · External reference
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome
10.1167/iovs.09-4085 · 2010 · External reference
10.1371/journal.pone.0088410
10.1371/journal.pone.0088410 · External reference
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis
10.1016/j.heares.2014.12.006 · 2015 · External reference
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands
10.1038/srep32792 · 2016 · External reference
Investigating the molecular basis of retinal degeneration in a familial Cohort of Pakistani decent by exome sequencing
10.1371/journal.pone.0136561 · 2015 · External reference
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
10.1038/s41598-018-38007-2 · 2019 · External reference
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing
10.1371/journal.pone.0104281 · 2014 · External reference
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing
10.1167/iovs.14-15458 · 2014 · External reference
10.1371/journal.pone.0105439
10.1371/journal.pone.0105439 · External reference
10.1371/journal.pone.0097808
10.1371/journal.pone.0097808 · External reference
10.1002/humu.20513
10.1002/humu.20513 · External reference
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
10.1002/humu.21193 · 2010 · External reference
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy
10.1002/humu.21634 · 2012 · External reference
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively
10.1002/humu.9042 · 2002 · External reference
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
10.1002/humu.21255 · 2010 · External reference
Experience of targeted Usher exome sequencing as a clinical test
10.1002/mgg3.25 · 2014 · External reference
