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Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/ana.10347openalex-snapshot
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
inferredcites →https://doi.org/10.1006/geno.1997.4869openalex-snapshot
mdfw:A Deafness Susceptibility Locus That Interacts with Deaf Waddler (dfw)
inferredcites →https://doi.org/10.1006/jmbi.1997.1510openalex-snapshot
Merging extracellular domains: fold prediction for laminin G-like and amino-terminal thrombospondin-like modules based on homology to pentraxins 1 1Edited by G. Von Heijne
inferredcites →https://doi.org/10.1007/s00439-002-0690-xopenalex-snapshot
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25
inferredcites →https://doi.org/10.1016/0888-7543(90)90546-7openalex-snapshot
Localization of Usher syndrome type II to chromosome 1q
inferredcites →https://doi.org/10.1016/s0378-5955(01)00344-6openalex-snapshot
Localization and expression of usherin: a novel basement membrane protein defective in people with Usher’s syndrome type IIa
inferredcites →https://doi.org/10.1016/s0378-5955(99)00003-9openalex-snapshot
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
inferredcites →https://doi.org/10.1016/s0888-7543(05)80120-xopenalex-snapshot
A gene for usher syndrome type I (USH1A) maps to chromosome 14q
inferredcites →https://doi.org/10.1016/s0888-7543(05)80121-1openalex-snapshot
Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11
inferredcites →https://doi.org/10.1016/s0888-7543(05)80122-3openalex-snapshot
Localization of two genes for usher syndrome type I to chromosome 11
inferredcites →https://doi.org/10.1016/s0896-6273(01)00397-xopenalex-snapshot
A Novel Gene Causing a Mendelian Audiogenic Mouse Epilepsy
inferredcites →https://doi.org/10.1016/s0968-0004(02)02163-1openalex-snapshot
The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders
inferredcites →https://doi.org/10.1023/a:1019926122125openalex-snapshot
Treatment with Taurine, Diltiazem, and Vitamin E Retards the Progressive Visual Field Reduction in Retinitis Pigmentosa: A 3-Year Follow-Up Study
inferredcites →https://doi.org/10.1038/1284openalex-snapshot
Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice
inferredcites →https://doi.org/10.1038/13508openalex-snapshot
Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse
inferredcites →https://doi.org/10.1038/374060a0openalex-snapshot
Defective myosin VIIA gene responsible for Usher syndrome type IB
inferredcites →https://doi.org/10.1038/79171openalex-snapshot
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
inferredcites →https://doi.org/10.1038/79178openalex-snapshot
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
inferredcites →https://doi.org/10.1038/83667openalex-snapshot
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
inferredcites →https://doi.org/10.1038/ng1176openalex-snapshot
Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3
inferredcites →https://doi.org/10.1038/ng1226openalex-snapshot
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
inferredcites →https://doi.org/10.1038/sj.ejhg.5200307openalex-snapshot
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2
inferredcites →https://doi.org/10.1042/bst0300473openalex-snapshot
Bioinformatics and type II G-protein-coupled receptors
inferredcites →https://doi.org/10.1073/pnas.232579599openalex-snapshot
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
inferredcites →https://doi.org/10.1073/pnas.94.19.10249openalex-snapshot
Calx , a Na-Ca exchanger gene of Drosophila melanogaster
inferredcites →https://doi.org/10.1074/jbc.273.30.18693openalex-snapshot
Balance and Hearing Deficits in Mice with a Null Mutation in the Gene Encoding Plasma Membrane Ca2+-ATPase Isoform 2
inferredcites →https://doi.org/10.1074/jbc.m108929200openalex-snapshot
Very Large G Protein-coupled Receptor-1, the Largest Known Cell Surface Protein, Is Highly Expressed in the Developing Central Nervous System
inferredcites →https://doi.org/10.1074/jbc.m206415200openalex-snapshot
Post-translational Proteolytic Processing of the Calcium-independent Receptor of α-Latrotoxin (CIRL), a Natural Chimera of the Cell Adhesion Protein and the G Protein-coupled Receptor
inferredcites →https://doi.org/10.1074/jbc.r100065200openalex-snapshot
PDZ Domains: Structural Modules for Protein Complex Assembly
inferredcites →https://doi.org/10.1086/316954openalex-snapshot
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
inferredcites →https://doi.org/10.1086/321277openalex-snapshot
Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F
inferredcites →https://doi.org/10.1086/323610openalex-snapshot
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3
inferredcites →https://doi.org/10.1093/emboj/cdf689openalex-snapshot
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
inferredcites →https://doi.org/10.1093/hmg/10.16.1709openalex-snapshot
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
inferredcites →https://doi.org/10.1093/hmg/11.15.1757openalex-snapshot
A common protein interaction domain links two recently identified epilepsy genes
inferredcites →https://doi.org/10.1093/hmg/12.5.463openalex-snapshot
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
inferredcites →https://doi.org/10.1093/hmg/4.1.93openalex-snapshot
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
inferredcites →https://doi.org/10.1093/hmg/5.10.1689openalex-snapshot
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
inferredcites →https://doi.org/10.1093/hmg/6.1.27openalex-snapshot
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
inferredcites →https://doi.org/10.1101/gr.278202openalex-snapshot
CDART: Protein Homology by Domain Architecture
inferredcites →https://doi.org/10.1126/science.280.5370.1753openalex-snapshot
Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa
inferredcites →https://doi.org/10.1136/jmg.37.4.256openalex-snapshot
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
inferredcites →https://doi.org/10.1159/000027693openalex-snapshot
Ultrastructural Evidence for Protection of the Outer Hair Cells of the Inner Ear during Intense Noise Exposure by Application of the Organic Calcium Channel Blocker Diltiazem
inferredcites →https://doi.org/10.1210/mend.14.9.0511openalex-snapshot
Sequence Similarities between a Novel Putative G Protein-Coupled Receptor and Na+/Ca2+ Exchangers Define a Cation Binding Domain
inferredcites →https://doi.org/10.2174/0929867033368204openalex-snapshot
Beta-propellers: Associated Functions and their Role in Human Diseases
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4674394openalex-extracted
A New Kind of Naturally Occurring Mouse Model for Usher Syndrome Generated by Crossing with Cba/J Mice
inferred← citeshttps://doi.org/10.1001/jamaophthalmol.2014.4498openalex-snapshot
Clinical Aspects of Usher Syndrome and theUSH2AGene in a Cohort of 433 Patients
inferred← citeshttps://doi.org/10.1002/advs.202205993openalex-snapshot
Deafness‐Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment
inferred← citeshttps://doi.org/10.1002/age.70062openalex-snapshot
LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction
inferred← citeshttps://doi.org/10.1002/ajmg.a.31716openalex-snapshot
Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X‐linked inheritance?
inferred← citeshttps://doi.org/10.1002/ajmg.a.37594openalex-snapshot
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype
inferred← citeshttps://doi.org/10.1002/cph4.70068openalex-snapshot
Cell‐Specific Functions of the BAI / ADGRB Subfamily of Adhesion G‐Protein Coupled Receptors
inferred← citeshttps://doi.org/10.1002/dneu.20771openalex-snapshot
Deafness and retinal degeneration in a novel USH1C knock‐in mouse model
inferred← citeshttps://doi.org/10.1002/dvdy.24473openalex-snapshot
Adhesion G‐protein coupled receptors and extracellular matrix proteins: Roles in myelination and glial cell development
inferred← citeshttps://doi.org/10.1002/epd2.70069openalex-snapshot
Novel ADGRV1 pathogenic variant associated to sleep‐related hypermotor epilepsy
inferred← citeshttps://doi.org/10.1002/ggn2.202500066openalex-snapshot
Ciliary Defects in Inherited Retinal Diseases
inferred← citeshttps://doi.org/10.1002/humu.20221openalex-snapshot
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders
inferred← citeshttps://doi.org/10.1002/humu.20513openalex-snapshot
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
inferred← citeshttps://doi.org/10.1002/humu.22004openalex-snapshot
Non-USH2A mutations in USH2 patients
inferred← citeshttps://doi.org/10.1002/humu.23336openalex-snapshot
A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity
inferred← citeshttps://doi.org/10.1002/humu.23666openalex-snapshot
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
inferred← citeshttps://doi.org/10.1002/humu.9524openalex-snapshot
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
inferred← citeshttps://doi.org/10.1002/mdb2.70038openalex-snapshot
Advances in GPCRs Associated With Wnt Signaling Within the Auditory System
inferred← citeshttps://doi.org/10.1002/mgg3.131openalex-snapshot
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing
inferred← citeshttps://doi.org/10.1002/nadc.20194089044openalex-snapshot
Trendbericht Biochemie Teil 3: Adhäsions‐GPCR ‐‐ Hindernisse und Perspektiven
inferred← citeshttps://doi.org/10.1007/0-387-32442-9_49openalex-snapshot
Molecular Analysis of the Supramolecular Usher Protein Complex in the Retina
inferred← citeshttps://doi.org/10.1007/978-1-4419-7913-1_16openalex-snapshot
Adhesion-GPCRs in the Male Reproductive Tract
inferred← citeshttps://doi.org/10.1007/978-1-4419-7913-1_6openalex-snapshot
Studies on the Very Large G Protein-Coupled Receptor: From Initial Discovery to Determining its Role in Sensorineural Deafness in Higher Animals
inferred← citeshttps://doi.org/10.1007/978-1-4419-7913-1_7openalex-snapshot
Adhesion-GPCRs in the CNS
inferred← citeshttps://doi.org/10.1007/978-1-59745-186-4_7openalex-snapshot
Retinal Degeneration in Usher Syndrome
inferred← citeshttps://doi.org/10.1007/978-1-62703-779-2_4openalex-snapshot
Discovery and Function of the Very Large G Protein-Coupled Receptor
inferred← citeshttps://doi.org/10.1007/978-3-030-27378-1_89openalex-snapshot
Studies of the Periciliary Membrane Complex in the Syrian Hamster Photoreceptor
inferred← citeshttps://doi.org/10.1007/978-3-031-76550-6_28openalex-snapshot
Identification of Unexpected Pathomechanisms Underlying the Human Usher Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-319-41523-9_1openalex-snapshot
Introduction: History of the Adhesion GPCR Field
inferred← citeshttps://doi.org/10.1007/978-3-319-41523-9_7openalex-snapshot
Versatile Signaling Activity of Adhesion GPCRs
inferred← citeshttps://doi.org/10.1007/978-3-319-41523-9_8openalex-snapshot
Adhesion GPCR-Related Protein Networks
inferred← citeshttps://doi.org/10.1007/978-3-319-41523-9_9openalex-snapshot
The Relevance of Genomic Signatures at Adhesion GPCR Loci in Humans
inferred← citeshttps://doi.org/10.1007/978-3-319-43287-8_5openalex-snapshot
Genetic Diagnosis of Deafness
inferred← citeshttps://doi.org/10.1007/978-981-10-8557-4_4openalex-snapshot
Molecular Components of Mechanotransduction Machinery
inferred← citeshttps://doi.org/10.1007/s00109-022-02240-0openalex-snapshot
Adhesion G protein-coupled receptor gluing action guides tissue development and disease
inferred← citeshttps://doi.org/10.1007/s00424-014-1552-9openalex-snapshot
Genetics of auditory mechano-electrical transduction
inferred← citeshttps://doi.org/10.1007/s00439-004-1205-8openalex-snapshot
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
inferred← citeshttps://doi.org/10.1007/s00439-005-0077-xopenalex-snapshot
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation
inferred← citeshttps://doi.org/10.1007/s00439-008-0556-yopenalex-snapshot
Human hereditary hearing impairment: mouse models can help to solve the puzzle
inferred← citeshttps://doi.org/10.1007/s00439-021-02324-wopenalex-snapshot
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
inferred← citeshttps://doi.org/10.1007/s00439-022-02441-0openalex-snapshot
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
inferred← citeshttps://doi.org/10.1007/s00439-022-02448-7openalex-snapshot
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
inferred← citeshttps://doi.org/10.1007/s10048-005-0216-5openalex-snapshot
LGI1: a gene involved in epileptogenesis and glioma progression?
inferred← citeshttps://doi.org/10.1007/s10072-021-05403-yopenalex-snapshot
Biallelic ADGRV1 variants are associated with Rolandic epilepsy
inferred← citeshttps://doi.org/10.1007/s10528-024-11019-6openalex-snapshot
A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss
inferred← citeshttps://doi.org/10.1007/s11033-017-4129-9openalex-snapshot
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
inferred← citeshttps://doi.org/10.1007/s11427-024-2661-3openalex-snapshot
Biomolecular condensates and disease pathogenesis
inferred← citeshttps://doi.org/10.1007/s12031-012-9911-5openalex-snapshot
The Very Large G Protein Coupled Receptor (Vlgr1) in Hair Cells
inferred← citeshttps://doi.org/10.1007/s12264-025-01446-9openalex-snapshot
Liquid–Liquid Phase Separation in Hereditary Hearing Loss
inferred← citeshttps://doi.org/10.1007/s12268-013-0379-9openalex-snapshot
Adhäsions-G-Protein-gekoppelte Rezeptoren — rätselhafte Riesen
inferred← citeshttps://doi.org/10.1016/b978-0-12-369428-7.00038-0openalex-snapshot
Molecular Diagnostic Evaluation of Deaf and Hard-of-Hearing Individuals
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00150-6openalex-snapshot
Hereditary Hearing Impairment
inferred← citeshttps://doi.org/10.1016/b978-0-12-386456-7.04706-7openalex-snapshot
Pathobiology of the Outer Retina: Genetic and Nongenetic Causes of Disease
inferred← citeshttps://doi.org/10.1016/b978-0-12-397267-5.00014-5openalex-snapshot
Sensory Organ Disorders (Retina, Auditory, Olfactory, Gustatory)
inferred← citeshttps://doi.org/10.1016/b978-0-12-809324-5.24165-5openalex-snapshot
Development and Deafness
inferred← citeshttps://doi.org/10.1016/b978-0-12-815234-8.00003-3openalex-snapshot
Hereditary Hearing Impairment
inferred← citeshttps://doi.org/10.1016/b978-0-12-816228-6.00002-7openalex-snapshot
Structure, function and therapeutic potential of adhesion GPCRs
inferred← citeshttps://doi.org/10.1016/b978-0-323-02598-0.50023-9openalex-snapshot
Retinitis Pigmentosa and Allied Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-05283-2.00147-6openalex-snapshot
Cochlear Transduction and the Molecular Basis of Auditory Pathology
inferred← citeshttps://doi.org/10.1016/b978-0-323-05283-2.00148-8openalex-snapshot
Genetic Sensorineural Hearing Loss
inferred← citeshttps://doi.org/10.1016/b978-1-4557-0737-9.00040-0openalex-snapshot
Retinitis Pigmentosa and Allied Disorders
inferred← citeshttps://doi.org/10.1016/b978-1-4557-4696-5.00146-9openalex-snapshot
10.1016/b978-1-4557-4696-5.00146-9
inferred← citeshttps://doi.org/10.1016/b978-1-4557-4696-5.00148-2openalex-snapshot
10.1016/b978-1-4557-4696-5.00148-2
inferred← citeshttps://doi.org/10.1016/bs.pmbts.2022.06.009openalex-snapshot
Adhesion G protein-coupled receptors—Structure and functions
inferred← citeshttps://doi.org/10.1016/j.ajo.2023.06.026openalex-snapshot
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome
inferred← citeshttps://doi.org/10.1016/j.bbadis.2014.11.020openalex-snapshot
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
inferred← citeshttps://doi.org/10.1016/j.bbamem.2006.09.029openalex-snapshot
Impact of GPCRs in clinical medicine: Monogenic diseases, genetic variants and drug targets
inferred← citeshttps://doi.org/10.1016/j.bbrc.2015.07.020openalex-snapshot
Identification of the tethered peptide agonist of the adhesion G protein-coupled receptor GPR64/ADGRG2
inferred← citeshttps://doi.org/10.1016/j.bbrc.2021.12.006openalex-snapshot
Latrophilin-1 drives neuron morphogenesis and shapes chemo- and mechanosensation-dependent behavior in C. elegans via a trans function
inferred← citeshttps://doi.org/10.1016/j.bcp.2016.04.013openalex-snapshot
Adhesion GPCRs in immunology
inferred← citeshttps://doi.org/10.1016/j.biocel.2013.11.001openalex-snapshot
Usher protein functions in hair cells and photoreceptors
inferred← citeshttps://doi.org/10.1016/j.brainres.2006.01.102openalex-snapshot
Evaluation of HCN2 abnormalities as a cause of juvenile audiogenic seizures in Black Swiss mice
inferred← citeshttps://doi.org/10.1016/j.ceca.2023.102702openalex-snapshot
Calcium signaling and genetic rare diseases: An auditory perspective
inferred← citeshttps://doi.org/10.1016/j.cellsig.2020.109637openalex-snapshot
Adhesion GPCRs as a paradigm for understanding polycystin-1 G protein regulation
inferred← citeshttps://doi.org/10.1016/j.celrep.2012.06.015openalex-snapshot
The GPS Motif Is a Molecular Switch for Bimodal Activities of Adhesion Class G Protein-Coupled Receptors
inferred← citeshttps://doi.org/10.1016/j.celrep.2012.09.012openalex-snapshot
The GPS Motif Is a Molecular Switch for Bimodal Activities of Adhesion Class G Protein-Coupled Receptors
inferred← citeshttps://doi.org/10.1016/j.celrep.2015.04.008openalex-snapshot
The Adhesion GPCR Latrophilin/CIRL Shapes Mechanosensation
inferred← citeshttps://doi.org/10.1016/j.crvi.2013.12.004openalex-snapshot
The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models
inferred← citeshttps://doi.org/10.1016/j.csbj.2023.02.040openalex-snapshot
Liquid-liquid phase separation in hair cell stereocilia development and maintenance
inferred← citeshttps://doi.org/10.1016/j.cub.2020.08.035openalex-snapshot
Functional, Morphological, and Evolutionary Characterization of Hearing in Subterranean, Eusocial African Mole-Rats
inferred← citeshttps://doi.org/10.1016/j.exer.2004.03.005openalex-snapshot
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
inferred← citeshttps://doi.org/10.1016/j.exer.2005.11.010openalex-snapshot
Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
inferred← citeshttps://doi.org/10.1016/j.febslet.2010.12.005openalex-snapshot
GPS autoproteolysis is required for CD97 to up-regulate the expression of N-cadherin that promotes homotypic cell-cell aggregation
inferred← citeshttps://doi.org/10.1016/j.gendis.2024.101267openalex-snapshot
Mechanosensitive adhesion G protein-coupled receptors: Insights from health and disease
inferred← citeshttps://doi.org/10.1016/j.gene.2005.05.015openalex-snapshot
Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish
inferred← citeshttps://doi.org/10.1016/j.gene.2024.148562openalex-snapshot
A New Mouse Model for Usher Syndrome Crossing Kunming Mice with CBA/J Mice
inferred← citeshttps://doi.org/10.1016/j.gene.2025.149246openalex-snapshot
Genotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model
inferred← citeshttps://doi.org/10.1016/j.genrep.2024.102126openalex-snapshot
Whole exome sequencing based coding variation in nasopharyngeal cancer from tribal population of North-East India
inferred← citeshttps://doi.org/10.1016/j.heares.2009.06.006openalex-snapshot
Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors
inferred← citeshttps://doi.org/10.1016/j.heares.2016.06.008openalex-snapshot
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
inferred← citeshttps://doi.org/10.1016/j.heares.2019.02.007openalex-snapshot
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina
inferred← citeshttps://doi.org/10.1016/j.heares.2020.107912openalex-snapshot
Dual and triple AAV delivery of large therapeutic gene sequences into the inner ear
inferred← citeshttps://doi.org/10.1016/j.heares.2021.108329openalex-snapshot
Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease
inferred← citeshttps://doi.org/10.1016/j.heliyon.2021.e07804openalex-snapshot
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome
inferred← citeshttps://doi.org/10.1016/j.ijporl.2017.08.012openalex-snapshot
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV
inferred← citeshttps://doi.org/10.1016/j.isci.2021.102283openalex-snapshot
Adhesion G protein-coupled receptor VLGR1/ADGRV1 regulates cell spreading and migration by mechanosensing at focal adhesions
inferred← citeshttps://doi.org/10.1016/j.isci.2023.106550openalex-snapshot
Interaction between GPR110 (ADGRF1) and tight junction protein occludin implicated in blood-brain barrier permeability
inferred← citeshttps://doi.org/10.1016/j.jaci.2017.06.050openalex-snapshot
A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions
inferred← citeshttps://doi.org/10.1016/j.jneuroim.2005.06.023openalex-snapshot
Chromosome 5 and multiple sclerosis
inferred← citeshttps://doi.org/10.1016/j.jnutbio.2011.10.006openalex-snapshot
Investigation of the molecular response to folate metabolism inhibition
inferred← citeshttps://doi.org/10.1016/j.mcpro.2026.101526openalex-snapshot
Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry
inferred← citeshttps://doi.org/10.1016/j.molmed.2005.12.006openalex-snapshot
From deafness genes to hearing mechanisms: harmony and counterpoint
inferred← citeshttps://doi.org/10.1016/j.molpha.2025.100100openalex-snapshot
Constitutive activity among orphan G protein-coupled receptors: Molecular mechanisms and pharmacological perspectives
inferred← citeshttps://doi.org/10.1016/j.omtn.2025.102702openalex-snapshot
Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa
inferred← citeshttps://doi.org/10.1016/j.pharmthera.2004.08.008openalex-snapshot
Mutant G-protein-coupled receptors as a cause of human diseases
inferred← citeshttps://doi.org/10.1016/j.pharmthera.2019.02.012openalex-snapshot
Adhesion G-protein coupled receptors: Implications for metabolic function
inferred← citeshttps://doi.org/10.1016/j.preteyeres.2025.101405openalex-snapshot
Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity
inferred← citeshttps://doi.org/10.1016/j.seizure.2022.11.005openalex-snapshot
Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children
inferred← citeshttps://doi.org/10.1016/j.tibs.2008.07.005openalex-snapshot
Adhesion-GPCRs: emerging roles for novel receptors
inferred← citeshttps://doi.org/10.1016/j.tips.2019.02.003openalex-snapshot
Adhesion G Protein-Coupled Receptors as Drug Targets for Neurological Diseases
inferred← citeshttps://doi.org/10.1016/j.visres.2007.08.015openalex-snapshot
Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
inferred← citeshttps://doi.org/10.1016/j.visres.2012.07.020openalex-snapshot
The expression of whirlin and Cav1.3α1 is mutually independent in photoreceptors
inferred← citeshttps://doi.org/10.1016/j.ygeno.2005.02.006openalex-snapshot
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC
inferred← citeshttps://doi.org/10.1016/s0001-6519(05)78616-7openalex-snapshot
Estudio genético molecular del síndrome de Usher en España
inferred← citeshttps://doi.org/10.1016/s0070-2153(08)00608-xopenalex-snapshot
Chapter 8 Mouse Models for Human Hereditary Deafness
inferred← citeshttps://doi.org/10.1016/s0070-2153(08)00808-9openalex-snapshot
Chapter Eight Primary Cilia in Planar Cell Polarity Regulation of the Inner Ear
inferred← citeshttps://doi.org/10.1016/s1674-8301(11)60013-4openalex-snapshot
Comparative domain modeling of human EGF-like module EMR2 and study of interaction of the fourth domain of EGF with chondroitin 4-sulphate
inferred← citeshttps://doi.org/10.1038/ejhg.2008.143openalex-snapshot
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
inferred← citeshttps://doi.org/10.1038/ejhg.2008.167openalex-snapshot
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
inferred← citeshttps://doi.org/10.1038/gt.2016.81openalex-snapshot
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome
inferred← citeshttps://doi.org/10.1038/jhg.2009.107openalex-snapshot
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
inferred← citeshttps://doi.org/10.1038/jhg.2010.29openalex-snapshot
Genetics and pathological mechanisms of Usher syndrome
inferred← citeshttps://doi.org/10.1038/jhg.2011.45openalex-snapshot
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations
inferred← citeshttps://doi.org/10.1038/jhg.2012.79openalex-snapshot
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21–q21.1
inferred← citeshttps://doi.org/10.1038/mp.2010.14openalex-snapshot
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs
inferred← citeshttps://doi.org/10.1038/nrd4533openalex-snapshot
New treatment options for hearing loss
inferred← citeshttps://doi.org/10.1038/nrn.2016.86openalex-snapshot
Adhesion G protein-coupled receptors in nervous system development and disease
inferred← citeshttps://doi.org/10.1038/s41467-023-36312-7openalex-snapshot
Isoform- and ligand-specific modulation of the adhesion GPCR ADGRL3/Latrophilin3 by a synthetic binder
inferred← citeshttps://doi.org/10.1038/s41467-023-37267-5openalex-snapshot
Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation
inferred← citeshttps://doi.org/10.1038/s41467-023-38083-7openalex-snapshot
Tethered agonist activated ADGRF1 structure and signalling analysis reveal basis for G protein coupling
inferred← citeshttps://doi.org/10.1038/s41573-025-01371-6openalex-snapshot
The therapeutic potential of orphan adhesion G-protein-coupled receptors
inferred← citeshttps://doi.org/10.1038/s41589-022-01084-6openalex-snapshot
Structures of the ADGRG2–Gs complex in apo and ligand-bound forms
inferred← citeshttps://doi.org/10.1038/s41598-019-42105-0openalex-snapshot
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients
inferred← citeshttps://doi.org/10.1038/s41598-019-46265-xopenalex-snapshot
Genetic basis of functional variability in adhesion G protein-coupled receptors
inferred← citeshttps://doi.org/10.1038/s41598-023-34361-yopenalex-snapshot
Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina
inferred← citeshttps://doi.org/10.1038/s41598-023-44259-4openalex-snapshot
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
inferred← citeshttps://doi.org/10.1038/s42003-020-0831-6openalex-snapshot
Synaptamide activates the adhesion GPCR GPR110 (ADGRF1) through GAIN domain binding
inferred← citeshttps://doi.org/10.1044/2020_persp-20-00013openalex-snapshot
Current Approaches to the Management of Usher Syndrome for the Clinician
inferred← citeshttps://doi.org/10.1074/jbc.c111.265934openalex-snapshot
Cell Adhesion Receptor GPR133 Couples to Gs Protein
inferred← citeshttps://doi.org/10.1074/jbc.m114.549816openalex-snapshot
Constitutive Gαi Coupling Activity of Very Large G Protein-coupled Receptor 1 (VLGR1) and Its Regulation by PDZD7 Protein
inferred← citeshttps://doi.org/10.1074/jbc.m114.610535openalex-snapshot
Whirlin and PDZ Domain-containing 7 (PDZD7) Proteins Are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2
inferred← citeshttps://doi.org/10.1074/mcp.m114.045997openalex-snapshot
Biochemical Large-Scale Interaction Analysis of Murine Olfactory Receptors and Associated Signaling Proteins with Post-Synaptic Density 95, Drosophila Discs Large, Zona-Occludens 1 (PDZ) Domains
inferred← citeshttps://doi.org/10.1080/07391102.2025.2507152openalex-snapshot
Computational study of the potential impact of WHRN protein missense SNPs on WHRN-MYO15A protein complex interaction and their association with Usher syndrome
inferred← citeshttps://doi.org/10.1080/10408363.2023.2286606openalex-snapshot
G protein-coupled receptor (GPCR) gene variants and human genetic disease
inferred← citeshttps://doi.org/10.1080/13816810.2020.1747090openalex-snapshot
Atypical and ultra-rare Usher syndrome: a review
inferred← citeshttps://doi.org/10.1080/13816810.2021.1946704openalex-snapshot
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
inferred← citeshttps://doi.org/10.1080/13816810590918118openalex-snapshot
Novel Mutations inMYO7AandUSH2Ain Usher Syndrome
inferred← citeshttps://doi.org/10.1080/13816810701537374openalex-snapshot
Screening of theUSH1GGene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome
inferred← citeshttps://doi.org/10.1080/14992020500060610openalex-snapshot
Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation
inferred← citeshttps://doi.org/10.1080/14992020600975279openalex-snapshot
The changing face of Usher syndrome: Clinical implications
inferred← citeshttps://doi.org/10.1080/15257770.2024.2344194openalex-snapshot
Current updates on genetic spectrum of usher syndrome
inferred← citeshttps://doi.org/10.1080/16513860410003093openalex-snapshot
The prevalence of Usher Syndrome in Sweden: a nationwide epidemiological and clinical survey
inferred← citeshttps://doi.org/10.1080/17460441.2020.1791075openalex-snapshot
Opportunities and challenges for drug discovery in modulating Adhesion G protein-coupled receptor (GPCR) functions
inferred← citeshttps://doi.org/10.1080/17460441.2026.2662413openalex-snapshot
Therapeutic targeting of adhesion GPCRs: a status update and future potential
inferred← citeshttps://doi.org/10.1083/jcb.201202012openalex-snapshot
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice
inferred← citeshttps://doi.org/10.1089/gte.2007.0107openalex-snapshot
Four USH2A Founder Mutations Underlie the Majority of Usher Syndrome Type 2 Cases among Non-Ashkenazi Jews
inferred← citeshttps://doi.org/10.1093/hmg/ddi416openalex-snapshot
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
inferred← citeshttps://doi.org/10.1093/hmg/ddi417openalex-snapshot
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
inferred← citeshttps://doi.org/10.1093/hmg/ddn140openalex-snapshot
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
inferred← citeshttps://doi.org/10.1093/hmg/ddn312openalex-snapshot
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
inferred← citeshttps://doi.org/10.1093/hmg/ddr503openalex-snapshot
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II
inferred← citeshttps://doi.org/10.1093/hmg/dds212openalex-snapshot
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
inferred← citeshttps://doi.org/10.1093/hmg/ddv398openalex-snapshot
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle
inferred← citeshttps://doi.org/10.1093/hmg/ddw421openalex-snapshot
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells
inferred← citeshttps://doi.org/10.1096/fj.07-9435comopenalex-snapshot
Ligation of the adhesion‐GPCR EMR2 regulates human neutrophil function
inferred← citeshttps://doi.org/10.1096/fj.15-276220openalex-snapshot
The constitutive activity of the adhesion GPCR GPR114/ADGRG5 is mediated by its tethered agonist
inferred← citeshttps://doi.org/10.1096/fj.201500110openalex-snapshot
Getting from A to B—exploring the activation motifs of the class B adhesion G protein‐coupled receptor subfamily G member 4/GPR112
inferred← citeshttps://doi.org/10.1096/fj.201901657rropenalex-snapshot
Lack of PDZD7 long isoform disrupts ankle‐link complex and causes hearing loss in mice
inferred← citeshttps://doi.org/10.1097/aud.0000000000001066openalex-snapshot
Review of Genotype-Phenotype Correlations in Usher Syndrome
inferred← citeshttps://doi.org/10.1097/iae.0000000000002636openalex-snapshot
PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
inferred← citeshttps://doi.org/10.1097/mcd.0b013e328331a6d7openalex-snapshot
De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability
inferred← citeshttps://doi.org/10.1097/wco.0b013e3283218807openalex-snapshot
Update on Usher syndrome
inferred← citeshttps://doi.org/10.1101/2022.05.27.493401openalex-snapshot
Adgrg6/Gpr126 is required for myocardial Notch activity and N-cadherin localization to attain trabecular identity
inferred← citeshttps://doi.org/10.1101/2022.09.09.507336openalex-snapshot
Tethered agonist activated ADGRF1 structure reveals molecular preference for Gα q signalling
inferred← citeshttps://doi.org/10.1101/2023.01.11.521585openalex-snapshot
Intron retention of an adhesion GPCR generates single transmembrane-helix isoforms to enable 7TM-adhesion GPCR function
inferred← citeshttps://doi.org/10.1101/2023.10.24.563883openalex-snapshot
The force-sensing GPCR LPHN2 is indispensable for normal auditory function
inferred← citeshttps://doi.org/10.1101/2024.04.25.591120openalex-snapshot
The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neuron development: first insights into to pathophysiology of ADGRV1 -associated epilepsy
inferred← citeshttps://doi.org/10.1101/2024.09.10.612265openalex-snapshot
Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina
inferred← citeshttps://doi.org/10.1101/2024.10.31.621306openalex-snapshot
The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to primary cilia
inferred← citeshttps://doi.org/10.1101/2025.02.17.638682openalex-snapshot
Single-cell multiomics of neuron activation reveals context-specific genetics of brain disorders
inferred← citeshttps://doi.org/10.1101/cshperspect.a028274openalex-snapshot
Photoreceptor Cilia and Retinal Ciliopathies
inferred← citeshttps://doi.org/10.1101/cshperspect.a033142openalex-snapshot
Hair-Bundle Links: Genetics as the Gateway to Function
inferred← citeshttps://doi.org/10.1101/gr.280060.124openalex-snapshot
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
inferred← citeshttps://doi.org/10.1111/age.13109openalex-snapshot
Exploiting within‐breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation‐related traits, stature and udder defects in cattle
inferred← citeshttps://doi.org/10.1111/bph.16325openalex-snapshot
The dark sides of the GPCR tree ‐ research progress on understudied GPCRs
inferred← citeshttps://doi.org/10.1111/epi.13980openalex-snapshot
ADGRV1 is implicated in myoclonic epilepsy
inferred← citeshttps://doi.org/10.1111/j.1365-2443.2007.01046.xopenalex-snapshot
Vlgr1 is required for proper stereocilia maturation of cochlear hair cells
inferred← citeshttps://doi.org/10.1111/j.1399-0004.2004.00352.xopenalex-snapshot
Mutation screening of USH3 gene (clarin‐1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability
inferred← citeshttps://doi.org/10.1111/j.1399-0004.2008.01038.xopenalex-snapshot
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22‐23
inferred← citeshttps://doi.org/10.1111/j.1399-0004.2009.01257.xopenalex-snapshot
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2
inferred← citeshttps://doi.org/10.1111/j.1442-9071.2007.01534.xopenalex-snapshot
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
inferred← citeshttps://doi.org/10.1111/j.1471-4159.2004.02875.xopenalex-snapshot
Vlgr1 knockout mice show audiogenic seizure susceptibility
inferred← citeshttps://doi.org/10.1111/j.1600-0420.2006.00675.xopenalex-snapshot
Longterm visual prognosis in Usher syndrome types 1 and 2
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