Recombinant Human Usherin (USH2A), partial

1. A broad spectrum of USH2a copy number variants was identified in Usher syndrome patients. PMID: 29655801
2. We report here novel homozygous mutations in various genes causing USH, extending the spectrum of causative mutations. We also prove combined sequencing techniques as useful tools to identify novel disease-causing mutations. To the best of our knowledge, this is the largest report of a genetic analysis of Israeli and Palestinian families (n = 74) with different USH subtypes. PMID: 29490346
3. The visual outcome for non-syndromic RP or USH2 patients with USH2A mutations is consistent with that for RP patients with EYS mutations. PMID: 28678594
4. Family study implicating mutations in GJB2 and USH2A in Usher's syndrome with congenital hearing loss PMID: 29151245
5. Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted next-generation sequencing. Families with noted examples of phenotypic variation or apparent non-penetrant individuals may offer a clue to suspect complex inheritance. PMID: 28761320
6. two truncating mutations combine in USH2A to cause more severe and progressive hearing impairment in Usher syndrome type IIa PMID: 27318125
7. The current study confirmed a more severe progression of the retinal disease in USH1 patients rather than in USH2 patients. PMID: 27828912
8. 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
9. In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2. PMID: 28031293
10. We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 gene) in total four families, at a detection rate of 8% (4/50). PMID: 28118666
11. Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP. PMID: 26927203
12. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. PMID: 28137943
13. seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis PMID: 26806561
14. USH2A gene sequencing identifies several new deep intronic mutations responsible for Usher syndrome type 2A. PMID: 26629787
15. Usher syndrome 2 is caused by USH2A exon deletions in a small fraction of danish patients. PMID: 25804404
16. One novel and two known mutations in the USH2A gene were identified, and were further confirmed by direct sequencing and cosegregation analysis. PMID: 26310143
17. The presence of at least one 'retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. PMID: 25649381
18. Homozygous p.C759F mutations are not pathogenic and this leads to exclude the implication of p.C759F in the RP PMID: 25823529
19. Ten variants in the MYO7A gene and 34 variants in the USH2A gene were detected in Italian patients with Usher syndrome at a high detection rate. PMID: 25558175
20. Six novel and one recurrent homozygous USH2A mutations were identified with their genotype-phenotype correlations annotated. PMID: 25133613
21. The c.8559-2A>G mutation in the USH2A gene is associated the Usher syndrome in a Chinese family. PMID: 26252086
22. A homozygous frameshift mutation (c.4382delA, p.T1462Lfs*2) and two compound heterozygous mutations, IVS47 + 1G> A and c.13156A > T (p.I4386F), identified as causative of Usher syndrome in Chinese families. PMID: 26377068
23. The novel heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene are associated with with Usher syndrome type II. PMID: 26037342
24. Novel deletions have been found involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa. PMID: 25352746
25. Herein, we describe 2 siblings harboring the same USH2A mutations (c.[1036A>C];[13316C>T], p.[Asn346His];[Thr4439Ile]) with very different ocular and electrophysiological phenotypes. PMID: 25521520
26. Data indicate that Usher syndrome 2A protein (USH2A) mutations was approximately 4% among Japanese autosomal recessive retinitis pigmentosa (arRP), and the USH2A mutations differed largely between Japanese patients and reported Caucasian populations. PMID: 25078356
27. Both WHRN and PDZD7 are required for the complex formation with USH2A and GPR98. PMID: 25406310
28. Cys759Phe showed P < .001 for most items analyzed when compared with patients carrying p.Glu767Serfs*21 and when compared with patients carrying other mutations in the USH2A gene. PMID: 25375654
29. study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A. PMID: 24349473
30. Here, we report an effect of the common c.2299delG mutation on splicing of exons 12 and 13 of USH2A. PMID: 24607488
31. Novel Usher syndrome type 2A (USH2A) compound heterozygous mutations, c.4325T>C (p.F1442S) and c.15188T>G (p.L5063R), located in exons 20 and 70, respectively, were identified as probable causative mutations for retinitis pigmentosa. PMID: 24227914
32. Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. PMID: 23940504
33. the genetic defects in the USH2A gene in Usher syndrome families PMID: 23737954
34. We found that 8 of 23 (35%) mutations in individuals with a monoallelic mutation in USH2A can be attributed to deletions, duplications and a pathogenic deep intronic variant in patients with usher syndrome. PMID: 23924366
35. USH2A (c.2276 G>T) is the likely disease-causing gene in two non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. PMID: 22876132
36. Touch sensitivity was impaired in a cohort of individuals carrying pathogenic mutations in the USH2A gene, but not in other cases of Usher syndrome. PMID: 22563300
37. 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
38. Results establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II. PMID: 22159486
39. USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. PMID: 22009552
40. Mutations in USH2A are responsible for 76.1% of USH2 disease in patients of Spanish origin. PMID: 22004887
41. the mutation spectrum for USH2A among Japanese patients largely differs from Caucasian, Jewish and Palestinian patients. PMID: 21593743
42. Seven novel mutations (two missense, one 7-bp deletion, two small deletions, and two nonsense) were detected in the four Chinese families after sequencing analysis of USH2A. PMID: 21686329
43. 35 USH2A gene deleterious mutations in patients with USH2 were identified including 17 nonsense mutations, 9 frameshift mutations, 5 splice-site mutations, and 4 small in-frame deletions or insertions. Twenty-seven mutations were novel. PMID: 20507924
44. An exhaustive c.2299delG/control haplotype study suggests that the major source of variability in the USH2A gene is recombination. PMID: 20145675
45. The heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or retinitis pigmentosa, respectively. PMID: 20309401
46. Data support the fact that c.2299delG/p.E767fs is indeed the most common USH2A mutation found in USH2 patients of European Caucasian background. PMID: 19881469
47. Conservation of usherin is seen at the nucleotide and amino acid level when comparing the mouse and human gene sequences. Evolutionary conservation of usherin expression supports the important structural and functional role usherin plays in human. PMID: 12433396
48. There is considerable phenotypic heterogeneity arising from missense mutations, nonsense codons, amino acid substitutions, and polymorphisms in USH2A and ranges from the Usher syndrome, to non-syndromic retinitis pigmentosa, to unaffected subjects. PMID: 12525556
49. Comparative analysis of both phenotypic and genotypic data supports the hypothesis that sensorineural hearing loss in patients with Retinitis Pigmentosa may depend on the nature and on the association of the USH2A allele variants present. PMID: 14970843
50. Mutation analysis in 12 unrelated patients with Usher syndrome, each with one mutation in exons 1-21, revealed three different truncating mutations in four patients and two missense mutations in one patient PMID: 15015129

显示更多

收起更多

HGNC: 12601

OMIM: 276901

KEGG: hsa:7399

STRING: 9606.ENSP00000305941

UniGene: Hs.655974