GPR98 Antibody, Biotin conjugated

1. Data suggest that the ADGRV1 variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV1 haploinsufficiency likely contributes to seizure development. PMID:29266188
2. we found new causative mutations in heterozygous compound state, one missense and one nonsense mutation in the GPR98 gene in three deaf sibs. The first mutation located in exon7, corresponds to c.1054C > A, which causes a proline to threonine change at position 352 of the protein (p.Pro352Thr). The second mutation located within exon77 is c.16544delT that leads to a stop codon at position 5515of the protein (p.Leu5515*). PMID:28951997
3. 7 patients clinically classified as having USH2, genetic tests confirmed the USH2 diagnosis in 5 cases. Of these, 4 patients showed mutations in the USH2A gene and 1 patient in the ADGRV1 gene. The mutation of the ADGRV1/GPR98 gene has an extremely rare incidence and is associated with a diagnosis of USH type 2C. PMID:28653555
4. We identified two novel truncation mutations in GPR98 causing Usher syndrome. PMID:26432996
5. our results suggest that low expression of VLGR1 is a significant risk factor of epileptic seizures in patients with low-grade glioma PMID:25511798
6. Our findings also expand the spectrum of GPR98 mutations in USH and demonstrate that the long isoform of GPR98 might carry even more mutations of the GPR98 gene. PMID:25572244
7. Diagnosis of Usher Syndrome 2 caused by GPR98 mutations in advance of visual defects in the cohort of nonsyndromic HL patients highlights importane of genetic testing in the diagnosis. PMID:25743181
8. identified an independent Galphai signaling pathway of the VLGR1 beta-subunit and its regulatory mechanisms that may have a role in the development of Usher syndrome PMID:24962568
9. In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found. PMID:23441107
10. genetic association studies in postmenopausal Japanese women: Study found association between an SNP in GPR98 (rs10514346) and bone mineral density in this population; data suggest that Gpr98 signaling pathway regulates bone metabolism. PMID:22419726
11. Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis. PMID:22147658
12. A nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. PMID:12402266
13. USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. PMID:15671307
14. GPR98 genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. PMID:18854872
15. study describes for the first time two male patients with Usher syndrome type 2 with novel GPR98 mutations PMID:19357117
16. has seven copies of the EPTP repeat, a unifying protein sequence motif of a heterogenous group of proteins linked to epileptic diseases. The EPTP repeat probably forms a beta-propeller structure. PMID:12217514

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HGNC: 17416

UNIGENE: Hs.591777

KEGG: hsa:84059

STRING: 9606.ENSP00000384582

OMIM: 602851