USH2A

Summary

Gene Symbol: USH2A
Description: usherin
Alias: RP39, US2, USH2, dJ1111A8.1, usherin, Usher syndrome 2A (autosomal recessive, mild), usher syndrome type IIa protein, usher syndrome type-2A protein
Species: human
Products:     USH2A

Top Publications

  1. Huang X, Xiang P, Chen J, Xing D, Huang N, Min Q, et al. Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. PLoS ONE. 2013;8:e63832 pubmed publisher
    ..Eleven mutations, eight of them were novel, in the USH2A gene were identified. Biparental mutations in USH2A were revealed in 2 families with pseudo-dominant inheritance...
  2. Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, et al. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat. 2007;28:781-9 pubmed
    The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2)...
  3. Seyedahmadi B, Rivolta C, Keene J, Berson E, Dryja T. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res. 2004;79:167-73 pubmed
    A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146 unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (ARRP) uncovered 54 different ..
  4. Baux D, Faugère V, Larrieu L, Le Guédard Méreuze S, Hamroun D, Beroud C, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat. 2008;29:E76-87 pubmed publisher
    ..of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
  5. Aller E, Larrieu L, Jaijo T, Baux D, Espinos C, Gonzalez Candelas F, et al. The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet. 2010;18:788-93 pubmed publisher
    ..It encodes two isoforms of the protein usherin. This protein is part of an interactome that has an essential role in the development and function of inner ear ..
  6. Ebermann I, Phillips J, Liebau M, Koenekoop R, Schermer B, Lopez I, et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010;120:1812-23 pubmed publisher
    ..In a set of sisters, each with a homozygous mutation in USH2A, a frame-shift mutation in PDZD7 was present in the sister with more severe RP and earlier disease onset...
  7. Bhattacharya G, Miller C, Kimberling W, Jablonski M, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res. 2002;163:1-11 pubmed
    ..Here we report that this protein, which we refer to as usherin, is a new basement membrane protein. In the mouse, usherin has a broad, but not ubiquitous, tissue distribution...
  8. Leroy B, Aragon Martin J, Weston M, Bessant D, Willis C, Webster A, et al. Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res. 2001;72:503-9 pubmed
    ..Mutations in a novel gene, USH2A, encoding the protein usherin, have recently been shown to be associated with USHII...
  9. Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan J, et al. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat. 2002;20:76-7 pubmed
    ..The most frequently mutated genes are MYO7A, which causes USH1B, and usherin, which causes USH2A. We carried out a mutation analysis of these two genes in the Spanish population...

More Information

Publications72

  1. Auslender N, Bandah D, Rizel L, Behar D, Shohat M, Banin E, et al. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet Test. 2008;12:289-94 pubmed publisher
    ..USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of ..
  2. Rivolta C, Sweklo E, Berson E, Dryja T. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000;66:1975-8 pubmed
    Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss...
  3. Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, et al. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. Clin Genet. 2009;76:383-91 pubmed publisher
    ..USH type 2 (USH2) is the most common type of USH and is frequently caused by mutations in USH2A, which accounts for 74-90% of USH2 cases...
  4. Adato A, Weston M, Berry A, Kimberling W, Bonne Tamir A. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat. 2000;15:388 pubmed
    ..Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long arm of chromosome 1q41...
  5. McGee T, Seyedahmadi B, Sweeney M, Dryja T, Berson E. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010;47:499-506 pubmed publisher
    ..Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie, non-..
  6. Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, et al. Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. J Hum Genet. 2011;56:484-90 pubmed publisher
    ..USH type 2 (USH2) is the most common type of USH and is frequently caused by mutations in USH2A. In a recent mutation screening of USH2A in Japanese USH2 patients, we identified 11 novel mutations in 10 ..
  7. Jaijo T, Aller E, García García G, Aparisi M, Bernal S, Avila Fernandez A, et al. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:1311-7 pubmed publisher
    ..Ninety-seven pathologic alleles were detected, corresponding to 26.5% of expected alleles. The USH2A mutations p.C3267R and p...
  8. Ebermann I, Koenekoop R, Lopez I, Bou Khzam L, Pigeon R, Bolz H. 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. Eur J Hum Genet. 2009;17:80-4 pubmed publisher
    ..investigated nine USH2 families from Quebec and New Brunswick (the former Acadia) by haplotype analyses of the USH2A locus and sequencing of the three known USH2 genes. Seven USH2A mutations were identified in eight patients...
  9. Jacobson S, Cideciyan A, Aleman T, Sumaroka A, Roman A, Gardner L, et al. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet. 2008;17:2405-15 pubmed publisher
    ..Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (USH1B)...
  10. García García G, Aparisi M, Jaijo T, Rodrigo R, Leon A, Avila Fernandez A, et al. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis. 2011;6:65 pubmed publisher
    ..Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases...
  11. Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi A, Moller C, et al. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat. 2008;29:451 pubmed publisher
    ..most common subtype, is defined by mutations in the USH2A gene encoding a short and a recently discovered long usherin isoform comprising 21 and 73 exons, respectively...
  12. Liu X, Hope C, Liang C, Zou J, Xu L, Cole T, et al. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet. 1999;64:1221-5 pubmed
  13. Kaiserman N, Obolensky A, Banin E, Sharon D. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch Ophthalmol. 2007;125:219-24 pubmed
    To identify USH2A mutations in Israeli patients with autosomal-recessive Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). Patients from 95 families with RP and 4 with USH2 were clinically evaluated...
  14. Reiners J, Nagel Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83:97-119 pubmed
    ..The two USH2 genes code for the transmembrane protein USH2A, also termed USH2A ("usherin") and the G-protein-coupled 7-transmembrane receptor VLGR1b (USH2C), respectively, whereas the USH3A gene ..
  15. Eudy J, Weston M, Yao S, Hoover D, Rehm H, Ma Edmonds M, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998;280:1753-7 pubmed
    ..Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171...
  16. Reiners J, Van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005;14:3933-43 pubmed
    ..and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A)...
  17. Bernal S, Meda C, Solans T, Ayuso C, Garcia Sandoval B, Valverde D, et al. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. Clin Genet. 2005;68:204-14 pubmed
    ..Ophthalmologic, vestibular and audiometric examination along with a mutation analysis of the USH2A gene (exons 1--21) was performed in twenty-eight Spanish USH2 patients...
  18. Pennings R, te Brinke H, Weston M, Claassen A, Orten D, Weekamp H, et al. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat. 2004;24:185 pubmed
    ..Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families...
  19. Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, et al. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. Mol Vis. 2010;16:454-61 pubmed
    ..The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the disease-causing gene mutation...
  20. Méndez Vidal C, Gonzalez del Pozo M, Vela Boza A, Santoyo Lopez J, López Domingo F, Vázquez Marouschek C, et al. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Mol Vis. 2013;19:2187-95 pubmed
    ..Novel Usher syndrome type 2A (USH2A) compound heterozygous mutations, c.4325T>C (p.F1442S) and c.15188T>G (p...
  21. Steele Stallard H, Le Quesne Stabej P, Lenassi E, Luxon L, Claustres M, Roux A, et al. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis. 2013;8:122 pubmed publisher
    ..It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases...
  22. Besnard T, Vache C, Baux D, Larrieu L, Abadie C, Blanchet C, et al. Non-USH2A mutations in USH2 patients. Hum Mutat. 2012;33:504-10 pubmed publisher
    ..In contrast to mutations in usherin, the mutational spectrum of GPR98 predominantly results in a truncated protein product...
  23. Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. Mol Vis. 2011;17:1537-52 pubmed
    ..In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing...
  24. Dreyer B, Tranebjaerg L, Rosenberg T, Weston M, Kimberling W, Nilssen O. Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet. 2000;8:500-6 pubmed
    ..Mutations in the USH2A gene, located on 1q41, were recently shown to be responsible for Usher syndrome type IIa...
  25. Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Moller C, Beneyto M, et al. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet. 2001;69:228-34 pubmed
    ..that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene...
  26. Yan D, Ouyang X, Patterson D, Du L, Jacobson S, Liu X. Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. J Hum Genet. 2009;54:732-8 pubmed publisher
    ..To identify novel mutations and determine the frequency of USH2A mutations as a cause of USH2, we have carried out mutation screening of all 72 coding exons and exon-intron splice ..
  27. Bhattacharya G, Kalluri R, Orten D, Kimberling W, Cosgrove D. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J Cell Sci. 2004;117:233-42 pubmed
    b>Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder...
  28. Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, et al. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol Vis. 2008;14:2067-75 pubmed
    ..Mutations in the USH2A gene have been shown to be responsible for most cases of USH2...
  29. Aller E, Jaijo T, Beneyto M, Najera C, Oltra S, Ayuso C, et al. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet. 2006;43:e55 pubmed
    Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa...
  30. Liu X, Bulgakov O, Darrow K, Pawlyk B, Adamian M, Liberman M, et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A. 2007;104:4413-8 pubmed
    ..In this article, we show that the USH2A protein, also known as usherin, is an exceptionally large ( approximately 600-kDa) matrix protein expressed specifically in retinal ..
  31. Van Wijk E, Pennings R, te Brinke H, Claassen A, Yntema H, Hoefsloot L, et al. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004;74:738-44 pubmed
    The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa...
  32. Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, et al. 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. Hum Mol Genet. 2005;14:3921-32 pubmed
    ..It is the most common genetic form of USH. USH2A encodes usherin, which was previously defined as a basement membrane protein...
  33. Sandberg M, Rosner B, Weigel DiFranco C, McGee T, Dryja T, Berson E. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008;49:5532-9 pubmed publisher
    To estimate the mean rates of ocular function loss in patients with autosomal recessive retinitis pigmentosa due to USH2A mutations...
  34. Vache C, Besnard T, le Berre P, García García G, Baux D, Larrieu L, et al. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat. 2012;33:104-8 pubmed publisher
    b>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...
  35. Van Wijk E, van der Zwaag B, Peters T, Zimmermann U, te Brinke H, Kersten F, et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet. 2006;15:751-65 pubmed
    ..of whirlin are widely and differentially expressed, and we provide evidence that whirlin directly associates with USH2A isoform b and VLGR1b, two proteins that we previously reported to be part of the Usher protein interactome...
  36. Aller E, Najera C, Millan J, Oltra J, Perez Garrigues H, Vilela C, et al. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet. 2004;12:407-10 pubmed
    The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss ..
  37. Weston M, Eudy J, Fujita S, Yao S, Usami S, Cremers C, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet. 2000;66:1199-210 pubmed
    ..The intron/exon organization of the gene whose protein we name "Usherin" was determined by direct sequencing of PCR products and cloned genomic DNA with cDNA-specific primers...
  38. Clark G, Crowe P, Muszynska D, O Prey D, O Neill J, Alexander S, et al. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Ophthalmology. 2010;117:2169-77.e3 pubmed publisher
    ..High-throughput genotyping for RP is evolving into a clinically useful genetic diagnostic tool. The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
  39. Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W. Usherin expression is highly conserved in mouse and human tissues. Hear Res. 2002;174:55-63 pubmed
    ..b>Usherin is a basement membrane protein encoded by the USH2A gene...
  40. Bernal S, Ayuso C, Antinolo G, Gimenez A, Borrego S, Trujillo M, et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003;40:e8 pubmed
  41. Close W, Bhandari A, Hojeij M, Pellett P. Generation of a novel human cytomegalovirus bacterial artificial chromosome tailored for transduction of exogenous sequences. Virus Res. 2017;242:66-78 pubmed publisher
    ..coli propagation sequence, a 2.7 kbp genome length deficit is created due to a preexisting deletion within the US2-US6 coding region...
  42. Kazi M, Al Qarni H, Alanazi F. Development of oral solid self-emulsifying lipid formulations of risperidone with improved in vitro dissolution and digestion. Eur J Pharm Biopharm. 2017;114:239-249 pubmed publisher
    ..convert liquid into solid self-emulsifying lipid formulations (SELFs) using an inorganic adsorbent Neusilin® grade US2 (NUS2) and investigate in vitro dissolution and digestion performance of the model antipsychotic compound ..
  43. Mezer E, Sutherland J, Goei S, Heon E, Levin A. Utility of molecular testing for related retinal dystrophies. Can J Ophthalmol. 2006;41:190-6 pubmed
    ..Only 19 (6%) patients were found to have sequence changes in RHO, RDS, CRB1, or USH2A, 2 of which were thought to be disease-causing...
  44. Testa F, Melillo P, Bonnet C, Marcelli V, De Benedictis A, Colucci R, et al. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. Retina. 2017;37:1581-1590 pubmed publisher
    ..evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively...
  45. Madapong A, Temeeyasen G, Saeng Chuto K, Tripipat T, Navasakuljinda W, Boonsoongnern A, et al. Humoral immune responses and viral shedding following vaccination with modified live porcine reproductive and respiratory syndrome virus vaccines. Arch Virol. 2017;162:139-146 pubmed publisher
    ..Ninety PRRSV-free pigs were divided randomly seven, groups including the NEG, EU1, EU2, US1, US2, US3 and US4 groups. The NEG group was unvaccinated...
  46. Abdi S, Bahloul A, Behlouli A, Hardelin J, Makrelouf M, Boudjelida K, et al. Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLoS ONE. 2016;11:e0161893 pubmed publisher
    ..1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had not been previously reported...
  47. Li P, Liu F, Zhang M, Wang Q, Liu M. [Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:468-71 pubmed publisher
    ..PCR and direct sequencing of USH2A gene were performed for the proband...
  48. Lenassi E, Robson A, Luxon L, Bitner Glindzicz M, Webster A. Clinical heterogeneity in a family with mutations in USH2A. JAMA Ophthalmol. 2015;133:352-5 pubmed publisher
  49. Chen Q, Zou J, Shen Z, Zhang W, Yang J. Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem. 2014;289:36070-88 pubmed publisher
    ..Among the three USH clinical types, type 2 (USH2) occurs most commonly. USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients...
  50. Ouyang X, Yan D, Hejtmancik J, Jacobson S, Li A, Du L, et al. Mutational spectrum in Usher syndrome type II. Clin Genet. 2004;65:288-93 pubmed
    ..One new missense mutation (N357T) occuring within the laminin N-terminal (type VI) domain of usherin was identified. Eight polymorphisms were found, five of which are novel...
  51. Perez Carro R, Corton M, Sánchez Navarro I, Zurita O, Sanchez Bolivar N, Sánchez Alcudia R, et al. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:19531 pubmed publisher
    ..not only single nucleotide variations but also copy-number variations, including three large deletions in the USH2A and EYS genes, were identified...
  52. Parry M, Rose Zerilli M, Gibson J, Ennis S, Walewska R, Forster J, et al. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS ONE. 2013;8:e83244 pubmed publisher
    ..recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A. By integrating our WES and CN data we identified three mutated putative candidate genes targeted by 7q deletions (..
  53. Lu X, Huang C, Zhang Y, Lin Y, Wang X, Li Q, et al. The Us2 Gene Product of Herpes Simplex Virus 2 modulates NF-κB activation by targeting TAK1. Sci Rep. 2017;7:8396 pubmed publisher
    ..In a screen of the unique short (Us) regions of HSV-2, we observed that HSV-2 Us2 activates NF-κB signaling...
  54. Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, et al. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. J Hum Genet. 2014;59:521-8 pubmed publisher
    Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. The USH2A gene, which accounts for approximately 74-90% of Usher syndrome type 2 (USH2) cases, is also one of the major autosomal recessive RP (arRP) causative genes ..
  55. Lenassi E, Saihan Z, Bitner Glindzicz M, Webster A. The effect of the common c.2299delG mutation in USH2A on RNA splicing. Exp Eye Res. 2014;122:9-12 pubmed publisher
    Recessive variants in the USH2A gene are an important cause of both Usher syndrome and nonsyndromic retinitis pigmentosa. A single base-pair deletion in exon 13 (c.2299delG, p...
  56. Huang X, Mao J, Huang Z, Rao F, Cheng F, Li F, et al. Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. Invest Ophthalmol Vis Sci. 2017;58:424-429 pubmed publisher
    ..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 ..
  57. Frenzel H, Bohlender J, Pinsker K, Wohlleben B, Tank J, Lechner S, et al. A genetic basis for mechanosensory traits in humans. PLoS Biol. 2012;10:e1001318 pubmed publisher
    ..a genetically well-characterized deaf-blindness syndrome, we could show that recessive pathogenic mutations in the USH2A gene influence touch acuity...
  58. Comander J, Weigel DiFranco C, Maher M, Place E, Wan A, Harper S, et al. The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. Genes (Basel). 2017;8: pubmed publisher
    ..These include mutations in RHO (five patients), USH2A (four patients), and PDE6B (two patients)...
  59. Sampaio K, Weyell A, Subramanian N, Wu Z, Sinzger C. A TB40/E-derived human cytomegalovirus genome with an intact US-gene region and a self-excisable BAC cassette for immunological research. Biotechniques. 2017;63:205-214 pubmed publisher
    ..The BAC cassette was inserted into the US2-US6 gene region (yielding TB40-BACKL7), relocated into the UL73/UL74 region with modifications that favor excision ..
  60. Dijkstra A, Boezen H, van den Berge M, Vonk J, Hiemstra P, Barr R, et al. Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD. Eur Respir J. 2015;45:60-75 pubmed publisher
    ..57×10(-6), OR 1.48) and with significantly increased MAML3 expression in lung tissue (p=2.59×10(-12)). Our data suggest the potential for differential genetic backgrounds of CMH in individuals with and without COPD. ..
  61. Chen X, Sheng X, Liu X, Li H, Liu Y, Rong W, et al. Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PLoS ONE. 2014;9:e105439 pubmed publisher
    b>USH2A mutations have been implicated in the disease etiology of several inherited diseases, including Usher syndrome type 2 (USH2), nonsyndromic retinitis pigmentosa (RP), and nonsyndromic deafness...
  62. Magliulo G, Iannella G, Gagliardi S, Iozzo N, Plateroti R, Mariottini A, et al. Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation. Otolaryngol Head Neck Surg. 2017;157:853-860 pubmed publisher
    Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function...
  63. Jones K, Wheaton D, Bowne S, Sullivan L, Birch D, Chen R, et al. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis. 2017;23:470-481 pubmed
    ..Retinal gene-targeted NGS in the fourth affected family member revealed compound heterozygous mutations in USH2A (p. Cys419Phe, p.Glu767Serfs*21). Genetic testing of FAM2 (n = 3 affected; 1 n.p...