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134 results

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Page 1
Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.
Guan Y, Du HB, Yang Z, Wang YZ, Ren R, Liu WW, Zhang C, Zhang JH, An WT, Li NN, Zeng XX, Li J, Sun YX, Wang YF, Yang F, Yang J, Xiong W, Yu X, Chai RJ, Tu XM, Sun JP, Xu ZG. Guan Y, et al. Adv Sci (Weinh). 2023 Jun;10(16):e2205993. doi: 10.1002/advs.202205993. Epub 2023 Apr 17. Adv Sci (Weinh). 2023. PMID: 37066759 Free PMC article.
By establishing Adgrv1 Y6236fsX1 mutant mice as a model of the deafness-associated human Y6244fsX1 mutation, the authors show here that the Y6236fsX1 mutation disrupts the interaction between adhesion G protein-coupled receptor V subfamily member 1 (ADGRV1) and othe …
By establishing Adgrv1 Y6236fsX1 mutant mice as a model of the deafness-associated human Y6244fsX1 mutation, the authors show here th …
Usher Syndrome.
Castiglione A, Möller C. Castiglione A, et al. Audiol Res. 2022 Jan 11;12(1):42-65. doi: 10.3390/audiolres12010005. Audiol Res. 2022. PMID: 35076463 Free PMC article. Review.
To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal …
To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, …
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities.
Zhou P, Meng H, Liang X, Lei X, Zhang J, Bian W, He N, Lin Z, Song X, Zhu W, Hu B, Li B, Yan L, Tang B, Su T, Liu H, Mao Y, Zhai Q, Yi Y. Zhou P, et al. Front Mol Neurosci. 2022 Jun 23;15:864074. doi: 10.3389/fnmol.2022.864074. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35813073 Free PMC article.
OBJECTIVE: ADGRV1 gene encodes adhesion G protein-coupled receptor-V1 that is involved in synaptic function. ADGRV1 mutations are associated with audio-visual disorders. Although previous experimental studies suggested that ADGRV1 variants were associated wit …
OBJECTIVE: ADGRV1 gene encodes adhesion G protein-coupled receptor-V1 that is involved in synaptic function. ADGRV1 mutations …
Biallelic ADGRV1 variants are associated with Rolandic epilepsy.
Liu Z, Ye X, Zhang J, Wu B, Dong S, Gao P. Liu Z, et al. Neurol Sci. 2022 Feb;43(2):1365-1374. doi: 10.1007/s10072-021-05403-y. Epub 2021 Jun 23. Neurol Sci. 2022. PMID: 34160719
RESULTS: Two compound heterozygous missense variants p.Val272Ile/p.Asn3028Ser and p.Ala3657Val/p.Met4419Val of ADGRV1 were identified in two unrelated familial cases of RE/ARE. All the variants were in the calcium exchanger beta domain and were suggested to be damaging by …
RESULTS: Two compound heterozygous missense variants p.Val272Ile/p.Asn3028Ser and p.Ala3657Val/p.Met4419Val of ADGRV1 were identified …
ADGRV1 is implicated in myoclonic epilepsy.
Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE. Myers KA, et al. Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20. Epilepsia. 2018. PMID: 29266188
OBJECTIVE: To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at the 5q14.3 chromosomal locus in myoclonic epilepsy. ...In cases of 5q14.3 deletion and epilepsy, seizures likely occur due to haploinsuffici …
OBJECTIVE: To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at …
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome.
Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Kinoshita S, et al. Heliyon. 2021 Aug 14;7(8):e07804. doi: 10.1016/j.heliyon.2021.e07804. eCollection 2021 Aug. Heliyon. 2021. PMID: 34458631 Free PMC article.
We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome. ...Sanger sequencing was performed to validate the identified ADH5/ALDH2/ADGRV1 variants. Our results ide …
We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic s …
Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins.
Linnert J, Knapp B, Güler BE, Boldt K, Ueffing M, Wolfrum U. Linnert J, et al. Front Cell Dev Biol. 2023 Jun 22;11:1199069. doi: 10.3389/fcell.2023.1199069. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37427378 Free PMC article.
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. ...In th …
The human Usher syndrome (USH) is the most common form of a sensory hereditary ciliopathy characterized by progressive vision and hearing lo …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Mutations in STRC account for 16% of the recessive cases, and only a few more (MYO15A, MYO7A, LOXHD1, USH2A, TMPRSS3, CDH23, TMC1, OTOF, OTOA, SLC26A4, ADGRV1 and TECTA) have contributions higher than 2%. As regards autosomal-dominant NSHI, DFNA22 (MYO6) and DFNA8/12 (TECT …
Mutations in STRC account for 16% of the recessive cases, and only a few more (MYO15A, MYO7A, LOXHD1, USH2A, TMPRSS3, CDH23, TMC1, OTOF, OTO …
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S, El-Amraoui A. Delmaghani S, et al. Hum Genet. 2022 Apr;141(3-4):709-735. doi: 10.1007/s00439-022-02448-7. Epub 2022 Mar 30. Hum Genet. 2022. PMID: 35353227 Free PMC article. Review.
Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, and WHRN for USH2, and CLRN1 for USH3. Based on the co-occurrence of hearing and vision deficits, the list of USH genes has been extended to …
Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, a …
Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children.
Leng X, Zhang T, Guan Y, Tang M. Leng X, et al. Seizure. 2022 Dec;103:108-114. doi: 10.1016/j.seizure.2022.11.005. Epub 2022 Nov 11. Seizure. 2022. PMID: 36399868 Free article.
RESULTS: Eighteen patients with epilepsy were found to have likely pathogenic variants in ADGRV1. The rate of ADGRV1 variants in patients with epilepsy in this cohort was 2.88%. ...Most epilepsy cases caused by ADGRV1 variants have a good prognosis....
RESULTS: Eighteen patients with epilepsy were found to have likely pathogenic variants in ADGRV1. The rate of ADGRV1 variants …
134 results