The research report should be a detailed narrative explaining the function, biological processes, and localization of the gene product. Citations should be given for all claims.
You should prioritize authoritative reviews and primary scientific literature when conducting research. You can supplement
this with annotations you find in gene/protein databases, but these can be outdated or inaccurate.
We are specifically interested in the primary function of the gene - for enzymes, what reaction is catalyzed, and what is the substrate specificity? For transporters, what is the substrate? For structural proteins or adapters, what is the broader structural role? For signaling molecules, what is the role in the pathway.
We are interested in where in or outside the cell the gene product carries out its function.
We are also interested in the signaling or biochemical pathways in which the gene functions. We are less interested in broad pleiotropic effects, except where these elucidate the precise role.
Include evidence where possible. We are interested in both experimental evidence as well as inference from structure, evolution, or bioinformatic analysis. Precise studies should be prioritized over high-throughput, where available.
Identity was verified before interpretation. The requested target is unambiguously human ADGRV1 (adhesion G protein-coupled receptor V1; UniProt Q8WXG9), also called GPR98, VLGR1, MASS1, and USH2C. The literature’s organism, aliases, exceptionally large adhesion-GPCR architecture, sensory localization, and Usher-syndrome association all match the supplied UniProt record; no similarly named gene or nonhuman paralog was substituted.
ADGRV1 is best understood not as a conventional enzyme or transporter but as a giant cell-surface adhesion receptor, extracellular structural linker, and probable metabotropic mechanosensor. Its clearest established functions are: (1) forming the Usher type-2 (USH2) membrane-link complex at developing cochlear stereocilia; and (2) organizing the periciliary membrane complex at the photoreceptor connecting cilium. These roles couple extracellular architecture to cytoplasmic scaffolds and context-dependent GPCR signaling. Emerging work additionally implicates ADGRV1 in focal-adhesion mechanics, ER–mitochondrial calcium transfer, autophagy, and astrocytic glutamate homeostasis, but these extensions are less firmly established in native human sensory tissue.
| Topic | Current conclusion | Strongest evidence/model | Confidence / limitation |
|---|---|---|---|
| Identity and architecture | Human ADGRV1 (Q8WXG9) is the protein also called GPR98, VLGR1, MASS1, and USH2C. The full-length isoform is an approximately 700-kDa adhesion GPCR with an enormous extracellular region containing 35 Calx-β repeats, EAR/epilepsy-associated repeats, a pentraxin-like region, a GAIN domain with a GPCR proteolysis site, seven transmembrane helices, and a cytoplasmic PDZ-binding motif. | Concordant human genetic, biochemical, and domain-annotation studies; the longest reported isoform has approximately 6,306–6,309 amino acids. | High. Exact residue count varies slightly among transcript annotations; several shorter isoforms lack the complete receptor region. |
| Hair-cell ankle-link scaffold | During cochlear hair-bundle development, ADGRV1 is a membrane component of the USH2 ankle-link complex, forming extracellular links between adjacent stereocilia and interacting functionally with usherin/USH2A, whirlin/WHRN, and PDZD7. This complex stabilizes bundle architecture and supports normal mechanotransduction. | Mouse localization, knockout, complex-integrity, and mechanotransduction studies; molecular interaction studies involving the ADGRV1 C-terminal PDZ-binding motif. | High for structural role; moderate for direct signaling contribution. Ankle links are developmentally transient in mammalian cochlear hair cells, and most mechanistic evidence comes from animals. |
| Photoreceptor periciliary complex | ADGRV1 forms part of a collar-like USH2 complex with usherin and whirlin at the periciliary membrane/connecting-cilium base, where it likely maintains membrane architecture and supports docking or trafficking of cargo destined for the outer segment. | Retinal immunolocalization, protein-dependency studies, mutant animals, and altered rhodopsin localization after ADGRV1 loss. | High for localization and complex membership; moderate for the exact transport mechanism. Direct cargo-receptor activity has not been demonstrated. |
| GAIN/GPS processing and receptor activation | Autoproteolysis within the GAIN/GPS region yields a large extracellular N-terminal/α fragment and a membrane-embedded C-terminal/β fragment containing the seven-transmembrane and cytoplasmic regions. Exposure of an approximately 11-residue C-terminal “Stachel” sequence can act as a tethered agonist. | Biochemical receptor-fragment and cultured-cell signaling studies, supported by the conserved adhesion-GPCR activation paradigm. | Moderate to high. Cleavage and fragment signaling are supported, but the extent of processing and activation in native human sensory cells remains insufficiently measured. |
| G-protein and AC6–cAMP–PKA signaling | Experimental constructs indicate context-dependent coupling to Gαs, Gαi, and possibly Gαq. An ADGRV1–Gαs/Gαi–adenylyl cyclase 6–cAMP–PKA pathway is plausible at cochlear ankle links; AC6 localization depends on USH2-complex integrity. | Cultured-cell receptor-fragment assays and mouse cochlear localization and Adcy6-knockout studies. | Moderate. AC6 loss alters cochlear PKA activity but does not cause major hearing loss in mice, implying redundancy; direct pathway measurements in human hair cells are absent. |
| Focal-adhesion mechanosensing | ADGRV1 also localizes to focal adhesions and acts as a candidate metabotropic mechanosensor, influencing focal-adhesion assembly, cell spreading, migration, and responses to mechanical stretch. | ADGRV1 depletion in hTERT-RPE1 cells, mutant mouse astrocytes, affinity proteomics, imaging, migration assays, and mechanical-stretch experiments. | Moderate. Strong cell-biological evidence, but relevance to native human sensory-cell physiology and disease remains incompletely established. |
| MAM calcium regulation and autophagy | ADGRV1 has been detected at mitochondria-associated ER membranes and implicated in maintaining ER–mitochondrial contacts and Ca²⁺ transfer. Deficiency increases autophagy-associated LC3 and p62 abnormalities, suggesting that ADGRV1 restrains or coordinates autophagic flux at internal membranes. | Cultured-cell imaging and proximity assays, ADGRV1-deficient mouse tissues, hTERT-RPE1 cells, and fibroblasts from patients with USH2C. | Moderate. Patient-cell evidence supports relevance, but results are not yet validated in native human retina or cochlea; whether autophagy changes are primary or compensatory is unresolved. |
| Human USH2C phenotype | Biallelic pathogenic ADGRV1 variants cause autosomal-recessive Usher syndrome type 2C, typically with congenital or first-decade sensorineural hearing loss followed by adolescent or young-adult retinitis pigmentosa. Central visual acuity may remain relatively preserved until late adulthood. | A 2023 multicenter cohort of 30 patients from 28 families: mean visual-symptom onset was 17.0 ± 7.7 years; 90% had no or mild baseline visual impairment; 26 of 49 variants were novel. | High for causality; moderate for natural-history precision. The disorder is rare, cohorts remain small, and severity varies. Monoallelic epilepsy and hearing-loss associations require more cautious interpretation. |
| 2023 zebrafish model | CRISPR disruption of adgrv1 caused loss of periciliary Adgrv1, reduced usherin and Whrnb, rhodopsin mislocalization, and decreased ERG B-wave amplitude, establishing quantifiable early retinal dysfunction. | Peer-reviewed adgrv1-rmc22 zebrafish study; ush2a and whrnb expression decreased by approximately 34% and 26%, respectively. | Moderate to high. Useful for therapy screening, but mutants did not show progressive adult retinal degeneration, likely reflecting zebrafish photoreceptor regeneration. |
| 2024 retinal transcriptomics | Target-enriched long-read sequencing supported retinal expression of the approximately 19.6-kb VLGR1b transcript, shorter ADGRV1 isoforms, and a novel 33-bp exon 39A. These findings may improve variant interpretation and therapy design. | Human neural-retina PacBio Iso-Seq, Samplix Xdrop enrichment, manual curation, and independent Oxford Nanopore data. | Emerging/preliminary. Reported as a 2024 preprint; full-length capture remained incomplete, amplification artifacts occurred, and some isoform structures remain unresolved. |
| Therapy status and implementation | There was no established ADGRV1-specific disease-modifying therapy or clearly relevant interventional trial through 2024. Current care uses hearing aids or cochlear implantation, retinal surveillance, low-vision support, genetic diagnosis, and counseling. Gene replacement is complicated by the exceptionally large coding sequence, motivating dual/multiple-vector, editing, splice-correction, or gene-independent approaches. | Clinical-management literature, trial-database searches, natural-history studies, and preclinical disease models. | High for current-care status; low to moderate for experimental therapies. No approach has demonstrated clinical efficacy specifically for ADGRV1-associated disease. |
Table: Compact evidence matrix summarizing the molecular architecture, sensory-cell functions, signaling, disease phenotype, recent models, transcriptomics, and therapeutic status of human ADGRV1 (Q8WXG9). Confidence notes distinguish established functions from emerging or model-dependent findings.
The full-length VLGR1b isoform is approximately 700 kDa and about 6,306–6,309 amino acids, making ADGRV1 the largest known adhesion GPCR and among the largest cell-surface proteins. Older transcript analyses describe a gene spanning roughly 605 kb with 90 exons and multiple splice forms; importantly, several shorter isoforms lack the C-terminal GPCR region and therefore should not automatically be assigned the signaling properties of full-length VLGR1b. A 2023 report describes the b isoform as 6,306 residues, whereas an earlier review reported 6,309 residues, likely reflecting transcript-annotation differences rather than different genes. Sun et al., published November 2013, DOI/URL; Borgese et al., published September 2023. (borgese2023combinedpresencein pages 4-7, sun2013theverylarge pages 2-3)
Its domain organization strongly supports a combined adhesive, calcium-sensitive, and signaling role. The enormous extracellular N terminus contains approximately 35 Calx-β repeats, seven epilepsy-associated/EAR repeats, a pentraxin-like region, and a membrane-proximal GAIN domain containing the GPCR proteolysis site (GPS). This is followed by the canonical seven-transmembrane bundle and a short cytoplasmic tail ending in a class-I PDZ-binding motif. Purified Calx-β repeats bind calcium in overlay assays, but ADGRV1 should not be described as a calcium transporter or established calcium receptor on that basis alone. (kusuluri2021adhesiongproteincoupled pages 1-2, borgese2023combinedpresencein pages 4-7, sun2013theverylarge pages 2-3, stemerdink2022geneticspathogenesisand pages 4-6)
Autoproteolysis at the GPS generates a large extracellular N-terminal fragment—corresponding to the annotated α subunit/NTF—and a membrane-embedded C-terminal fragment—β subunit/CTF—containing the 7TM domain and cytoplasmic tail. As in other adhesion GPCRs, separation or rearrangement of these fragments can expose an approximately 11-residue N-terminal CTF sequence, the Stachel tethered agonist, which activates the 7TM receptor. Thus, the UniProt “EC 3.4.-.-” annotation reflects self-cleavage-associated proteolysis rather than evidence that ADGRV1 is a freely acting protease with a defined physiological substrate spectrum. No convincing soluble endogenous ligand or conventional enzymatic substrate has been established. (kusuluri2021adhesiongproteincoupled pages 1-2, linnert2023theadhesiong pages 2-2, linnert2023theadhesiong pages 13-14)
During mammalian hair-bundle development, ADGRV1 is concentrated at the basal region of stereocilia and contributes to ankle links, extracellular fibers joining neighboring stereocilia. Together with the transmembrane protein usherin/USH2A and cytoplasmic scaffolds WHRN/whirlin and PDZD7, it stabilizes the developing bundle and supports normal mechanoelectrical transduction. The ADGRV1 C-terminal PDZ-binding motif connects the receptor to WHRN-family PDZ scaffolds, providing a physical route from the extracellular link to the actin-associated intracellular network. (knapp2022affinityproteomicsidentifies pages 1-3, sun2013theverylarge pages 11-11, stemerdink2022geneticspathogenesisand pages 4-6)
The structural role is better established than a direct role as the sound-gated transduction channel. Genetic disruption of USH2-complex components disorganizes the ankle-link region and weakens mechanotransduction currents, while ADGRV1 loss causes abnormal stereociliary maturation. Accordingly, ADGRV1 should be annotated as an organizer and signaling component of the mechanosensory bundle, not as the pore-forming mechanotransduction channel itself. PDZD7 loss also decreases ADGRV1 at photoreceptor connecting cilia and causes profound hearing loss, disorganized ankle links, weak transduction currents, and reduced hair-cell sensitivity, demonstrating interdependence within the complex. (sun2013theverylarge pages 11-11, delmaghani2022thegeneticand pages 12-14)
In rods and cones, ADGRV1, usherin, and whirlin form a collar-like periciliary membrane complex around the connecting cilium. Fibrous connectors bridge membranes near the inner-segment/ciliary interface. The leading model is that this structure maintains the periciliary architecture and helps dock or organize vesicular cargo moving toward the outer segment; direct substrate-like cargo recognition by ADGRV1 has not been demonstrated. (knapp2022affinityproteomicsidentifies pages 1-3, stemerdink2022geneticspathogenesisand pages 4-6)
A CRISPR-generated adgrv1 zebrafish model provided functional support in 2023. Loss of periciliary Adgrv1 reduced ush2a and whrnb expression by 34% and 26%, respectively, caused abnormal rhodopsin accumulation in photoreceptor cell bodies, and reduced ERG B-wave amplitude. These observations connect the USH2 complex to photoreceptor protein localization and retinal physiology. The model did not develop clear progressive adult degeneration, plausibly because zebrafish regenerate photoreceptors, limiting its fidelity to human retinitis pigmentosa. Stemerdink et al., published June 2023. (stemerdink2023generationandcharacterization pages 11-13)
ADGRV1 is also reported at focal adhesions. Depletion in hTERT-RPE1 cells reduced focal-adhesion number and length, cell spreading, migration kinetics, and response to mechanical stretch; mutant mouse astrocytes showed related defects. These data support a broader role as a shear/stretch-responsive metabotropic mechanosensor, although extrapolation from cultured cells to human cochlea and retina remains incomplete. Kusuluri et al., published April 2021. (kusuluri2021adhesiongproteincoupled pages 1-2)
ADGRV1 has additionally been localized to mitochondria-associated ER membranes (MAMs) by interaction, proximity, and imaging approaches. Deficiency altered ER–mitochondrial contact architecture and dysregulated calcium transfer from ER to mitochondria. This is a plausible link between ADGRV1, intracellular calcium homeostasis, bioenergetics, and autophagosome formation, but the relevance in native human sensory cells remains to be established. Krzysko et al., published September 2022. (linnert2023theadhesiong pages 2-2, stemerdink2023generationandcharacterization pages 11-13)
ADGRV1 signaling is context- and construct-dependent, rather than a settled single pathway. Cultured-cell receptor-fragment experiments indicate that uncleaved or N-terminally constrained receptor forms can signal through Gαs, whereas an activated/autoproteolyzed CTF can favor Gαi. Other constructs also activate Gαq–PKCδ/θ. Gαs would stimulate adenylyl cyclase and cAMP/PKA, whereas Gαi would inhibit selected cyclases and may influence autophagy through LKB1–AMPK. These observations support a cleavage- or conformation-dependent signaling switch, but direct measurements in native human hair cells or photoreceptors are unavailable. (linnert2023theadhesiong pages 14-14, mathur2023adenylylcyclase6 pages 7-9)
A 2023 mouse study localized adenylyl cyclase 6 (AC6), Gαs, Gαi, and PKA-Cα1 near basal stereocilia, partly overlapping ADGRV1. In Adgrv1−/− and Ush2a−/− cochleas, AC6 became distributed throughout stereocilia rather than remaining concentrated near ankle links, indicating that USH2-complex integrity organizes AC6. AC6 was estimated to account for about 50% of cochlear PKA activation. Nevertheless, Adcy6−/− mice retained normal adult hearing, implying redundant cyclases or compensatory Gq/PKC signaling. The pathway is therefore plausible and experimentally supported but not essential by itself. Mathur et al., published May 2023. (mathur2023adenylylcyclase6 pages 7-9, mathur2023adenylylcyclase6 pages 2-3, mathur2023adenylylcyclase6 pages 9-10)
Affinity proteomics and transcriptomics linked ADGRV1 to autophagosomal machinery. ADGRV1-deficient fibroblasts showed a greater starvation-induced LC3-II/LC3-I increase than control cells, while fibroblasts from patients with USH2C accumulated p62; assays included 2 μM bafilomycin A1 for two hours to assess flux. The Vlgr1/del7TM mouse retina also showed altered autophagy- and mTOR-related transcription. These findings imply that ADGRV1 normally regulates autophagic flux, potentially through MAM calcium transfer, cAMP signaling, AMPK, or mechanical stress. Whether increased autophagy is causal, maladaptive, or compensatory in sensory degeneration is unresolved. Linnert et al., published April 2023. (linnert2023theadhesiong pages 2-2, linnert2023theadhesiong pages 14-14, linnert2023theadhesiong pages 13-14)
Biallelic pathogenic variants cause autosomal-recessive Usher syndrome type 2C, typically comprising congenital or first-decade sensorineural hearing loss followed by adolescent or young-adult retinitis pigmentosa. ADGRV1 is estimated to account for approximately 9% of USH2. (varela2023detailedclinicalophthalmic pages 1-2)
The largest detailed ADGRV1-specific cohort reported through 2023 included 30 patients from 28 families. Hearing loss began in the first decade in all participants; mean onset of visual symptoms was 17.0 ± 7.7 years, and 90% had no or only mild visual impairment at baseline. Hyperautofluorescent retinal rings occurred in 70%, perimacular reduced-autofluorescence patches in 59%, and bone-spicule-like pigment in 63%. Of 49 identified variants, 26 (53%) were previously unreported, and 68% of families had two null alleles. Central vision was often preserved into late adulthood despite peripheral retinal degeneration. Varela et al., published December 2023. (varela2023detailedclinicalophthalmic pages 1-2, varela2023detailedclinicalophthalmic pages 7-9)
Epilepsy associations require more caution. Biallelic loss is firmly linked to USH2C, whereas monoallelic ADGRV1 variants have been proposed as susceptibility alleles for febrile-seizure-related epilepsy. A 2022 cohort found variants in 9 of 101 cases (8.91%), frequently inherited from unaffected parents, indicating incomplete penetrance and making causality less secure than for USH2C. A 2024 preprint further proposed impaired astrocytic glutamate uptake as a mechanism using mouse tissue, patient-derived cells, proteomics, transcriptomics, and live-cell imaging; because this remains preprint evidence, it should not yet redefine ADGRV1’s primary annotation. Güler et al., preprint posted April 2024. (guler2024theadhesiongpcr pages 1-5)
The transcript work is immediately relevant to diagnostics: retinal exons and splice events absent from incomplete annotations can affect variant classification, deep-intronic screening, and selection of therapeutic isoforms. It also highlights why short-read sequencing may miss clinically relevant transcript structure.
Current real-world implementation is diagnostic and supportive, not ADGRV1-directed molecular therapy. ADGRV1 belongs on inherited hearing-loss, retinal-dystrophy, and Usher-syndrome sequencing panels. Because the gene is large and variant-rich, interpretation should incorporate segregation, phenotype, copy-number and splice analysis, and careful review of variants of uncertain significance. The 2023 cohort’s finding that 53% of variants were novel illustrates the continuing interpretation burden. (varela2023detailedclinicalophthalmic pages 1-2)
Clinical care presently consists of hearing aids where useful, cochlear implantation for severe loss, serial ophthalmic assessment, low-vision and orientation support, communication services, and genetic counseling. Central retinal preservation into adulthood may provide a therapeutic window, but intervention would ideally precede substantial photoreceptor loss. (varela2023detailedclinicalophthalmic pages 7-9)
No ADGRV1-specific approved disease-modifying treatment was identified, and the clinical-trial search found no clearly relevant ADGRV1/USH2C interventional trial through the searched 2024 literature. Full-length gene replacement is difficult because the approximately 19.6-kb transcript greatly exceeds standard AAV capacity. Proposed solutions include dual/multiple-vector delivery, nonviral systems, genome or RNA editing, splice correction, and gene-independent neuroprotection; none has demonstrated clinical efficacy specifically for ADGRV1-USH2C. A cited antioxidant trial in broader Usher/retinal disease was not an ADGRV1-replacement study. (varela2023detailedclinicalophthalmic pages 7-9, stemerdink2024pushingthelimits pages 20-23)
The most defensible functional annotation is: ADGRV1 is a GPS-processed adhesion GPCR that serves as an extracellular membrane-link and intracellularly anchored mechanosensory signaling platform in specialized ciliary and stereociliary compartments. Its structural function within the USH2 complex is supported by convergent genetics, localization, biochemical interaction, and animal loss-of-function evidence. GPCR coupling, calcium sensitivity, and mechanosensing probably modulate that scaffold, but no single endogenous ligand–G-protein pathway has yet been established as universal.
Several claims remain provisional: the exact physiological trigger exposing the Stachel sequence; the balance of Gαs, Gαi, and Gαq in native sensory cells; the identity of any extracellular ligand; whether MAM/autophagy defects are primary drivers of retinal degeneration; and whether monoallelic variants independently cause epilepsy. Future high-value studies would combine patient-derived retinal or inner-ear organoids, endogenous full-length protein tagging, mechanical stimulation, spatial phosphoproteomics, and rescue with isoform-defined constructs. The exceptional transcript size and multiple isoforms make correct transcript selection a central requirement for both diagnosis and therapy design.
References
(borgese2023combinedpresencein pages 4-7): Nica Borgese, Andrés Guillén-Samander, Sara Francesca Colombo, Giulia Mancassola, Federica Di Berardino, Diego Zanetti, and Paola Carrera. Combined presence in heterozygosis of two variant usher syndrome genes in two siblings affected by isolated profound age-related hearing loss. Biomedicines, 11:2657, Sep 2023. URL: https://doi.org/10.3390/biomedicines11102657, doi:10.3390/biomedicines11102657. This article has 1 citations.
(sun2013theverylarge pages 2-3): Jin-Peng Sun, Rong Li, Hong-Ze Ren, An-Ting Xu, Xiao Yu, and Zhi-Gang Xu. The very large g protein coupled receptor (vlgr1) in hair cells. Journal of Molecular Neuroscience, 50:204-214, Nov 2013. URL: https://doi.org/10.1007/s12031-012-9911-5, doi:10.1007/s12031-012-9911-5. This article has 38 citations and is from a peer-reviewed journal.
(kusuluri2021adhesiongproteincoupled pages 1-2): Deva K. Kusuluri, Baran E. Güler, Barbara Knapp, Nicola Horn, Karsten Boldt, Marius Ueffing, Gabriela Aust, and Uwe Wolfrum. Adhesion g protein-coupled receptor vlgr1/adgrv1 regulates cell spreading and migration by mechanosensing at focal adhesions. iScience, 24:102283, Apr 2021. URL: https://doi.org/10.1016/j.isci.2021.102283, doi:10.1016/j.isci.2021.102283. This article has 42 citations and is from a peer-reviewed journal.
(stemerdink2022geneticspathogenesisand pages 4-6): M. Stemerdink, B. García-Bohórquez, R. Schellens, G. Garcia-Garcia, E. Van Wijk, and J. M. Millan. Genetics, pathogenesis and therapeutic developments for usher syndrome type 2. Human Genetics, 141:737-758, Jul 2022. URL: https://doi.org/10.1007/s00439-021-02324-w, doi:10.1007/s00439-021-02324-w. This article has 48 citations and is from a peer-reviewed journal.
(linnert2023theadhesiong pages 2-2): Joshua Linnert, Baran E. Güler, Jacek Krzysko, and Uwe Wolfrum. The adhesion g protein‐coupled receptor vlgr1/adgrv1 controls autophagy. Apr 2023. URL: https://doi.org/10.1111/bcpt.13869, doi:10.1111/bcpt.13869. This article has 22 citations and is from a domain leading peer-reviewed journal.
(linnert2023theadhesiong pages 13-14): Joshua Linnert, Baran E. Güler, Jacek Krzysko, and Uwe Wolfrum. The adhesion g protein‐coupled receptor vlgr1/adgrv1 controls autophagy. Apr 2023. URL: https://doi.org/10.1111/bcpt.13869, doi:10.1111/bcpt.13869. This article has 22 citations and is from a domain leading peer-reviewed journal.
(knapp2022affinityproteomicsidentifies pages 1-3): Barbara Knapp, Jens Roedig, Heiko Roedig, Jacek Krzysko, Nicola Horn, Baran E. Güler, Deva Krupakar Kusuluri, Adem Yildirim, Karsten Boldt, Marius Ueffing, Ines Liebscher, and Uwe Wolfrum. Affinity proteomics identifies interaction partners and defines novel insights into the function of the adhesion gpcr vlgr1/adgrv1. Molecules, 27:3108, May 2022. URL: https://doi.org/10.3390/molecules27103108, doi:10.3390/molecules27103108. This article has 29 citations.
(sun2013theverylarge pages 11-11): Jin-Peng Sun, Rong Li, Hong-Ze Ren, An-Ting Xu, Xiao Yu, and Zhi-Gang Xu. The very large g protein coupled receptor (vlgr1) in hair cells. Journal of Molecular Neuroscience, 50:204-214, Nov 2013. URL: https://doi.org/10.1007/s12031-012-9911-5, doi:10.1007/s12031-012-9911-5. This article has 38 citations and is from a peer-reviewed journal.
(delmaghani2022thegeneticand pages 12-14): Sedigheh Delmaghani and Aziz El-Amraoui. The genetic and phenotypic landscapes of usher syndrome: from disease mechanisms to a new classification. Human Genetics, 141:709-735, Mar 2022. URL: https://doi.org/10.1007/s00439-022-02448-7, doi:10.1007/s00439-022-02448-7. This article has 170 citations and is from a peer-reviewed journal.
(stemerdink2023generationandcharacterization pages 11-13): Merel Stemerdink, Sanne Broekman, Theo Peters, Hannie Kremer, Erik de Vrieze, and Erwin van Wijk. Generation and characterization of a zebrafish model for adgrv1-associated retinal dysfunction using crispr/cas9 genome editing technology. Cells, 12:1598, Jun 2023. URL: https://doi.org/10.3390/cells12121598, doi:10.3390/cells12121598. This article has 23 citations.
(linnert2023theadhesiong pages 14-14): Joshua Linnert, Baran E. Güler, Jacek Krzysko, and Uwe Wolfrum. The adhesion g protein‐coupled receptor vlgr1/adgrv1 controls autophagy. Apr 2023. URL: https://doi.org/10.1111/bcpt.13869, doi:10.1111/bcpt.13869. This article has 22 citations and is from a domain leading peer-reviewed journal.
(mathur2023adenylylcyclase6 pages 7-9): Pranav Dinesh Mathur, Junhuang Zou, Grace Neiswanger, Daniel Zhu, Yong Wang, Ali A. Almishaal, Deepti Vashist, H. Kirk Hammond, Albert H. Park, and Jun Yang. Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina. Scientific Reports, May 2023. URL: https://doi.org/10.1038/s41598-023-34361-y, doi:10.1038/s41598-023-34361-y. This article has 4 citations and is from a peer-reviewed journal.
(mathur2023adenylylcyclase6 pages 2-3): Pranav Dinesh Mathur, Junhuang Zou, Grace Neiswanger, Daniel Zhu, Yong Wang, Ali A. Almishaal, Deepti Vashist, H. Kirk Hammond, Albert H. Park, and Jun Yang. Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina. Scientific Reports, May 2023. URL: https://doi.org/10.1038/s41598-023-34361-y, doi:10.1038/s41598-023-34361-y. This article has 4 citations and is from a peer-reviewed journal.
(mathur2023adenylylcyclase6 pages 9-10): Pranav Dinesh Mathur, Junhuang Zou, Grace Neiswanger, Daniel Zhu, Yong Wang, Ali A. Almishaal, Deepti Vashist, H. Kirk Hammond, Albert H. Park, and Jun Yang. Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina. Scientific Reports, May 2023. URL: https://doi.org/10.1038/s41598-023-34361-y, doi:10.1038/s41598-023-34361-y. This article has 4 citations and is from a peer-reviewed journal.
(varela2023detailedclinicalophthalmic pages 1-2): Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, and Michel Michaelides. Detailed clinical, ophthalmic, and genetic characterization of adgrv1-associated usher syndrome. American Journal of Ophthalmology, 256:186-195, Dec 2023. URL: https://doi.org/10.1016/j.ajo.2023.06.026, doi:10.1016/j.ajo.2023.06.026. This article has 8 citations and is from a domain leading peer-reviewed journal.
(varela2023detailedclinicalophthalmic pages 7-9): Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, and Michel Michaelides. Detailed clinical, ophthalmic, and genetic characterization of adgrv1-associated usher syndrome. American Journal of Ophthalmology, 256:186-195, Dec 2023. URL: https://doi.org/10.1016/j.ajo.2023.06.026, doi:10.1016/j.ajo.2023.06.026. This article has 8 citations and is from a domain leading peer-reviewed journal.
(guler2024theadhesiongpcr pages 1-5): Baran E. Güler, Mark Zorin, Joshua Linnert, Kerstin Nagel-Wolfrum, and Uwe Wolfrum. The adhesion gpcr adgrv1 controls glutamate homeostasis in hippocampal astrocytes supporting neuron development: first insights into to pathophysiology of adgrv1-associated epilepsy. bioRxiv, Apr 2024. URL: https://doi.org/10.1101/2024.04.25.591120, doi:10.1101/2024.04.25.591120. This article has 4 citations.
(stemerdink2024pushingthelimits pages 20-23): Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Dueñas Rey, Emma Delanote, Suzanne E. de Bruijn, Hannie Kremer, Susanne Roosing, Frauke Coppieters, Alexander Hoischen, Frans P. M. Cremers, Peter A.C. ’t Hoen, Erwin van Wijk, and Erik de Vrieze. Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina. bioRxiv, Sep 2024. URL: https://doi.org/10.1101/2024.09.10.612265, doi:10.1101/2024.09.10.612265. This article has 0 citations.
(stemerdink2024pushingthelimits pages 23-27): Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Dueñas Rey, Emma Delanote, Suzanne E. de Bruijn, Hannie Kremer, Susanne Roosing, Frauke Coppieters, Alexander Hoischen, Frans P. M. Cremers, Peter A.C. ’t Hoen, Erwin van Wijk, and Erik de Vrieze. Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina. bioRxiv, Sep 2024. URL: https://doi.org/10.1101/2024.09.10.612265, doi:10.1101/2024.09.10.612265. This article has 0 citations.
(stemerdink2024pushingthelimits pages 1-4): Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Dueñas Rey, Emma Delanote, Suzanne E. de Bruijn, Hannie Kremer, Susanne Roosing, Frauke Coppieters, Alexander Hoischen, Frans P. M. Cremers, Peter A.C. ’t Hoen, Erwin van Wijk, and Erik de Vrieze. Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina. bioRxiv, Sep 2024. URL: https://doi.org/10.1101/2024.09.10.612265, doi:10.1101/2024.09.10.612265. This article has 0 citations.