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GenomicsHipSci RNASEQ Usher syndrome and congenital eye defects
The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Usher syndrome and congenital eye def...
EGAS00001001997 | EGA
ProteomicsUsher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
The human Usher syndrome (USH) is the most common form of a sensory hereditary ciliopathy characterized by progressive vision and hearing loss. Mutations in the genes ADGRV1 and CIB2 have been associated with two distinct sub-types of USH, namely USH2C and USH1J. The proteins encoded by the two gene...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD042629 | Pride
Usher syndrome Tap Interactome 
GenomicsHipSci Whole Exome sequencing Usher syndrome and congenital eye defects
The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown meth...
EGAS00001001985 | EGA
UnknownMutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
Not available
S-EPMC1181933 | biostudies-literature
UnknownCDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Not available
S-EPMC379159 | biostudies-literature
UnknownUsher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
Not available
S-EPMC449697 | biostudies-literature
UnknownNext-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.
Not available
S-EPMC5606877 | biostudies-literature
UnknownUsher Syndrome.
Not available
S-EPMC8788290 | biostudies-literature
TranscriptomicsMolecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
Compare single cell transcriptomes of control and USH1B patient iPSC-derived retinal organoids to elucidate disease mechanisms of Usher syndrome type IB (USH1B). USH1B patient fibroblasts were collected at Great Ormond Street Hospital (GOSH) and reprogrammed to iPSCs. Control and patient iPSCs diffe...
ORGANISM(S): Homo sapiens 
2023-03-27 | E-MTAB-11990 | biostudies-arrayexpress
GenomicsHipSci HumanExome BeadChip analysis - Usher syndrome and congenital eye defects
The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Genotyping analysis using the Infinium HumanExome BeadChip on...
EGAS00001002008 | EGA
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