Genomes and Genes
Gene Symbol: USH2A
Description: Usher syndrome 2A (autosomal recessive, mild)
Alias: RP39, US2, USH2, dJ1111A8.1, usher syndrome type IIa protein, usher syndrome type-2A protein, usherin
Publications158 found, 100 shown here
- Cultivation and partial characterization of bovine astrovirusD Aroonprasert
College of Veterinary Medicine, Texas A and M University, College Station 77843 4467
Vet Microbiol 19:113-25. 1989Bovine astrovirus serotype 2 (US2) was adapted to primary neonatal kidney cell (NBK) cultures by the addition of 50 micrograms ml-1 of trypsin in the medium...
- A hepatitis E virus variant from the United States: molecular characterization and transmission in cynomolgus macaquesJ C Erker
Virus Discovery Group, Experimental Biology Research, Abbott Laboratories, North Chicago, IL 60064, USA
J Gen Virol 80:681-90. 1999..In this paper, we report the near full-length sequences of HEV-US1 and a second US isolate (HEV-US2). HEV-US2 was identified in a US patient suffering from acute viral hepatitis...
- Bardet-Biedl syndrome and Usher syndromeRainer Koenig
Institute of Human Genetics, University Hospital, Frankfurt am Main, Germany
Dev Ophthalmol 37:126-40. 2003..Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified...
- Molecular phylogeny of equine herpesvirus 1 isolates from onager, zebra and Thomson's gazelleY M Ghanem
Department of Applied Veterinary Sciences, United Graduate School of Veterinary Sciences, Gifu University, Gifu, Japan
Arch Virol 153:2297-302. 2008..genes for glycoproteins B (gB), I (gI), and E (gE), and teguments including ORF8 (UL51), ORF15 (UL45), and ORF68 (US2), the onager, Grevy's zebra and gazelle isolates formed a genetic group that was different from several horse EHV-1 ..
- Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher diseaseJan Reiners
Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
Exp Eye Res 83:97-119. 2006..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 encodes ..
- Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing lossC Rivolta
Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, 02114, USA
Am J Hum Genet 66:1975-8. 2000Microdeletions 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...
- Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux
Centre Hospitalier Universitaire CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
Hum Mutat 28:781-9. 2007The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2)...
- Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type IIBo Dreyer
Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO 9037 Tromsø, Norway
Hum Mutat 29:451. 2008..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...
- Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsGema García-García
Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS La Fe, Valencia, Spain
Orphanet J Rare Dis 6:65. 2011..Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases.
- 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 IIErwin Van Wijk
Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands
Am J Hum Genet 74:738-44. 2004The 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...
- Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIaM D Weston
Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
Am J Hum Genet 66:1199-210. 2000..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...
- The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Erwin Van Wijk
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mol Genet 15:751-65. 2006..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...
- A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructureGautam Bhattacharya
Usher Syndrome Center, Boys Town National Research Hospital, 555 No 30th Street, Omaha, Nebraska, 68131, USA
J Cell Sci 117:233-42. 2004b>Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder...
- UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux
CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, F 34000, France
Hum Mutat 29:E76-87. 2008..of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
- Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsXiaoqing Liu
Berman Gund Laboratory for the Study of Retinal Degenerations and Eaton Peabody Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 104:4413-8. 2007..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 ..
- Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsAvital Adato
Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris, France
Hum Mol Genet 14:3921-32. 2005..It is the most common genetic form of USH. USH2A encodes usherin, which was previously defined as a basement membrane protein...
- A common ancestral origin of the frequent and widespread 2299delG USH2A mutationB Dreyer
Department of Medical Genetics, University Hospital and University of Tromsø, N 9037 Tromsø, Norway
Am J Hum Genet 69:228-34. 2001..The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene...
- Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosaGraeme Richard Clark
Centre for Vision and Vascular Science, Queen s University, Belfast, Northern Ireland
Ophthalmology 117:2169-77.e3. 2010..The goal of this study therefore was to develop a high-throughput screen capable of detecting both known mutations and novel mutations within all genes implicated in autosomal recessive or simplex RP...
- Identification of novel USH2A mutations: implications for the structure of USH2A proteinB Dreyer
Department of Medical Genetics, University Hospital and University of Tromsø, Norway
Eur J Hum Genet 8:500-6. 2000..Mutations in the USH2A gene, located on 1q41, were recently shown to be responsible for Usher syndrome type IIa...
- Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaTerri L McGee
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
J Med Genet 47:499-506. 2010..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-..
- Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese familyXiaowen Liu
the Union Hospital, Huazhong University of Science and Technology, Wuhan, Hubei, P R China
Mol Vis 16:454-61. 2010..To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP)...
- Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectivelyCarmen Najera
Departamento de Genetica, Facultad de Ciencias Biologicas, Universidad de Valencia, Valencia, Spain
Hum Mutat 20:76-7. 2002..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...
- The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller
Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain
Eur J Hum Genet 18:788-93. 2010..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 ..
- Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type IIDenise Yan
Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
J Hum Genet 54:732-8. 2009..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 ..
- Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2H Nakanishi
Department of Otolaryngology, Hamamatsu University School of Medicine, Hamamatsu, Japan
Clin Genet 76:383-91. 2009..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...
- Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variationS Bernal
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
J Med Genet 40:e8. 2003
- USH2A mutation analysis in 70 Dutch families with Usher syndrome type IIRonald J E Pennings
Department of Otorhinolaryngology, UMC Nijmegen, The Netherlands
Hum Mutat 24:185. 2004..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...
- Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2Nadia Kaiserman
Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Arch Ophthalmol 125:219-24. 2007To identify USH2A mutations in Israeli patients with autosomal-recessive Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP).
- 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 AcadiansInga Ebermann
Institute of Human Genetics, University of Cologne, Cologne, Germany
Eur J Hum Genet 17:80-4. 2009..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...
- Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type IIE Aller
Unit of Genetics, Hospital La Fe, Avda Campanar, 21, 46009 Valencia, Spain
J Med Genet 43:e55. 2006Mutations 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...
- Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi JewsNoa Auslender
Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
Genet Test 12:289-94. 2008..USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of ..
- A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variationX Z Liu
Am J Hum Genet 64:1221-5. 1999
- Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 familiesA Adato
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University Ramat Aviv 69978, Israel
Hum Mutat 15:388. 2000..Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long arm of chromosome 1q41...
- Spectrum of mutations in USH2A in British patients with Usher syndrome type IIB P Leroy
Department of Molecular Genetics, Institute of Ophthalmology, London, UK
Exp Eye Res 72:503-9. 2001..Mutations in a novel gene, USH2A, encoding the protein usherin, have recently been shown to be associated with USHII...
- Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairmentsElena Aller
Departamento de Genetica, Facultad de C Biológicas, Universidad de Valencia, Valencia, Spain
Eur J Hum Genet 12:407-10. 2004The 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 ..
- Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIaJ D Eudy
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
Science 280:1753-7. 1998..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...
- Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type IIHanjun Dai
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
Mol Vis 14:2067-75. 2008..Mutations in the USH2A gene have been shown to be responsible for most cases of USH2...
- Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2ACarlo Rivolta
Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114, USA
Arch Ophthalmol 120:1566-71. 2002..To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP)...
- Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosaBabak Jian Seyedahmadi
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Exp Eye Res 79:167-73. 2004A 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 ..
- Microarray-based mutation analysis of 183 Spanish families with Usher syndromeTeresa Jaijo
Unidad de Genética Hospital Universitario La Fe, Valencia, Spain
Invest Ophthalmol Vis Sci 51:1311-7. 2010..The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH...
- Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2Jan Reiners
Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany
Hum Mol Genet 14:3933-43. 2005..and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A)...
- Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlationS Bernal
Servei de Genètica, Universidad de Vigo, Vigo, Spain
Clin Genet 68:204-14. 2005..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...
- Update on the molecular genetics of retinitis pigmentosaQ Wang
Center for Molecular Genetics, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195, USA
Ophthalmic Genet 22:133-54. 2001..4. Autosomal recessive genes include RPE65 on chromosome 1p31, ABCA4 on 1p21-13, CRB1 on 1q31-32.1, USH2A on 1q41, MERTK on 2q14.1, SAG on 2q37.1, RHO on 3q21-24, PDE6B on 4p16.3, CNGA1 on 4p14-q13, PDE6A on 5q31...
- A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing lossInga Ebermann
Institute of Human Genetics, University Hospital of Cologne, Kerpener Str 34, 50931 Cologne, Germany
Hum Genet 121:203-11. 2007..Whirlin represents an excellent candidate for USH2 because it binds to Usherin (USH2A) and VLGR1b (USH2C)...
- Rotavirus infections and vaccines: burden of illness and potential impact of vaccinationKeith Grimwood
Queensland Paediatric Infectious Diseases Laboratory, Queensland Children s Medical Research Institute, The University of Queensland, Royal Children s Hospital, Herston Road, Herston, QLD 4029, Australia
Paediatr Drugs 12:235-56. 2010..child dies because of rotavirus infection and another four are hospitalized, at an annual societal cost in 2007 of $US2 billion...
- Pharmacoeconomic analysis of oral antifungal therapies used to treat dermatophyte onychomycosis of the toenails. A US analysisA K Gupta
Department of Medicine, Sunnybrook Health Science Center, Toronto, Ontario, Canada
Pharmacoeconomics 13:243-56. 1998..The corresponding cost per SFD was griseofulvin $US7.05, itraconazole (continuous) $US2.18, itraconazole (pulse) $US1.26, terbinafine $US1.28 and fluconazole $US2.12...
- [Investigation of herpes simplex virus in viral meningoencephalitis suspected cases using molecular and serological methods]Alper Akcali
Refik Saydam Hıfzıssıhha Merkezi Başkanlığı, Salgin Hastaliklar Araştirma Müdürlügü, Viroloji Laboratuvar Sefliği, Ankara
Mikrobiyol Bul 42:421-8. 2008..propagated in Vero cell line and PCR with different primer sets against HSV-1 and HSV-2 (specific for US7 and US2 gene regions, respectively) were used to investigate the presence of HSV in CSF...
- The Marek's disease virus (MDV) unique short region: alphaherpesvirus-homologous, fowlpox virus-homologous, and MDV-specific genesP Brunovskis
Department of Microbiology, Michigan State University, East Lansing 48824 1101
Virology 206:324-38. 1995..These include MDV counterparts of HSV US1 (ICP22), US2, US3 (a serine-threonine protein kinase), US6, US7, and US8 (HSV glycoproteins gD, gI, and gE, respectively), and ..
- CD4 glycoprotein degradation induced by human immunodeficiency virus type 1 Vpu protein requires the function of proteasomes and the ubiquitin-conjugating pathwayU Schubert
Laboratories of Molecular Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland 20892 0440, USA
J Virol 72:2280-8. 1998..In contrast to other viral proteins (human cytomegalovirus US2 and US11), however, whose translocation of host ER molecules into the cytosol occurs in the presence of proteasome ..
- Identification and transcriptional mapping of genes encoded at the IR/Us junction of equine herpesvirus type 1C A Breeden
Department of Microbiology and Immunology, Louisiana State University Medical Center, Shreveport 71130 3932
Virology 191:649-60. 1992..5-kDa protein of 303 amino acids that exhibits 29% identity to the US2 protein of herpes simplex virus 1. EUS1 is expressed as a 2...
- Patent extension policy for paediatric indications: an evaluation of the impact within three drug classes in a state Medicaid programmeRichard E Nelson
School of Medicine, University of Utah, Division of Epidemiology, Salt Lake City, Utah 84148, USA
Appl Health Econ Health Policy 9:171-81. 2011..Branded drugs in the statin, ACE inhibitor and selective serotonin reuptake inhibitor (SSRI) classes were three of many classes with drugs granted patent extensions...
- Amorphization alone does not account for the enhancement of solubility of drug co-ground with silicate: the case of indomethacinDeepak Bahl
School of Pharmacy, University of Connecticut, Storrs, Connecticut, 06269, USA
AAPS PharmSciTech 9:146-53. 2008The solubility advantage of indomethacin amorphized by co-grinding with Neusilin US2 in various media was investigated...
- A review of the economics of the prevention and control of rabies. Part 1: Global impact and rabies in humansM I Meltzer
National Center for Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Pharmacoeconomics 14:365-83. 1998..The costs (1995 values) of PEP range from $US1707 per person in Massachusetts, US, to $US2.50 for a complete series of vaccinations (without immunoglobulin) using sheep-derived vaccines in Karachi, Pakistan...
- [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]C P Hamel
Laboratoire de Neurobiologie, INSERM U 254, 71, rue de Navacelles, 34090 Montpellier
J Fr Ophtalmol 23:985-95. 2000..To characterize genes and mutations causing these conditions...
- Protection of chickens against very virulent infectious bursal disease virus (IBDV) and Marek's disease virus (MDV) with a recombinant MDV expressing IBDV VP2K Tsukamoto
Department of Virology, National Institute of Animal Health, Tsukuba, Japan
Virology 257:352-62. 1999..virus (MDV) CVI-988 strain expressing infectious bursal disease virus (IBDV) host-protective antigen VP2 at the US2 site (rMDV) was developed under the control of an SV40 early promoter...
- Demand forecasting for preventive AIDS vaccines: economic and policy dimensionsRobert Hecht
International AIDS Vaccine Initiative IAVI, New York, New York, USA
Pharmacoeconomics 26:679-97. 2008..A demand-forecasting model provides a valuable tool that can guide R&D spending decisions and identify policy actions to help achieve these goals...
- Human cytomegalovirus US3 chimeras containing US2 cytosolic residues acquire major histocompatibility class I and II protein degradation propertiesMathieu S Chevalier
Department of Molecular Microbiology and Immunology, Oregon Health and Science University, Portland, Oregon 97239, USA
J Virol 77:4731-8. 2003Human cytomegalovirus (HCMV) glycoprotein US2 increases the proteasome-mediated degradation of major histocompatibility complex (MHC) class I heavy chain (HC), class II DR-alpha and DM-alpha proteins, and HFE, a nonclassical MHC protein...
- Molecular characterization of two Pepino mosaic virus variants from imported tomato seed reveals high levels of sequence identity between Chilean and US isolatesKai Shu Ling
U S Vegetable Laboratory, USDA ARS, 2700 Savannah Highway, Charleston, SC 29414, USA
Virus Genes 34:1-8. 2007..Recent genome nucleotide sequences from two US isolates (US1 and US2) however showed much greater sequence divergence from that of the European PepMV isolates...
- Oral solid gentamicin preparation using emulsifier and adsorbentYukako Ito
Department of Pharmacokinetics, Kyoto Pharmaceutical University, Yamashina ku, Kyoto 607 8414, Japan
J Control Release 105:23-31. 2005..The used adsorbents were microporous calcium silicate (Florite RE), magnesium alminometa silicate (Neusilin US2), and silicon dioxide (Sylysia 320)...
- Use of the internet and self-collected samples as a sexually transmissible infection intervention in rural Illinois communitiesWiley D Jenkins
Southern Illinois University School of Medicine, Department of Family and Community Medicine, Springfield, IL 62791 9671, USA
Sex Health 8:79-85. 2011..Morbidity associated with infection remains a public health concern, with costs of $US2.5+ billion annually...
- A review of the economics of the prevention and control of rabies. Part 2: Rabies in dogs, livestock and wildlifeM I Meltzer
National Center for Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Pharmacoeconomics 14:481-98. 1998..In developing countries, estimates range from $US0.52 in Thailand, to $US1.19 in the Philippines, to $US2.70 in Malawi. None of these estimates include indirect costs accured by the pet owners...
- CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentScott F Geller
Helen Wills Neuroscience Institute, University of California, Berkeley, CA, USA
PLoS Genet 5:e1000607. 2009..In contrast to mouse KO models of USH1 and USH2, our data indicate that Clrn1 expression in the retina is restricted to the Müller glia...
- Effect of adsorbents on the absorption of lansoprazole with surfactantYukako Ito
Department of Pharmacokinetics, Kyoto Pharmaceutical University, 5 Misasagi Nakauchicho, Yamashina ku, Kyoto, Japan
Int J Pharm 289:69-77. 2005..As adsorbant, porous silicon dioxide (Sylysia 550, 320), magnesium aluminometa silicate (Neusilin S2, NS2N, US2) and porous calcium silicate (Florite RE) were used. After small intestinal administration of LPZ, 5...
- An evaluation of portable high-efficiency particulate air filtration for expedient patient isolation in epidemic and emergency responseKenneth Mead
Division of Applied Research and Technology, National Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH 45226, USA
Ann Emerg Med 44:635-45. 2004..The cost of constructing the expedient configurations was less than US2,300 dollars and required fewer than 3 person-hours to construct...
- Latent cytomegalovirus down-regulates major histocompatibility complex class II expression on myeloid progenitorsBarry Slobedman
Center for Virus Research, Westmead Millennium Institute and University of Sydney, Westmead, Australia
Blood 100:2867-73. 2002..A recombinant virus (RV798) lacking the virus genes US2-US11 retained the ability to downmodulate MHC class II levels during latent infection...
- Anaerobic oxidation of 2-chloroethanol under denitrifying conditions by Pseudomonas stutzeri strain JJJ A Dijk
Laboratory of Microbiology, Wageningen University, Hesselink van Suchtelenweg 4, 6703 CT Wageningen, The Netherlands
Appl Microbiol Biotechnol 63:68-74. 2003..Only three strains, Pseudomonas stutzeri strain LMD 76.42, Pseudomonas putida US2 and Xanthobacter autotrophicus GJ10, grew aerobically on 2-chloroethanol...
- Endoplasmic reticulum chaperones participate in human cytomegalovirus US2-mediated degradation of class I major histocompatibility complex moleculesKristina Oresic
Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA
J Gen Virol 89:1122-30. 2008..The HCMV US2 and US11 gene products induce class I downregulation during the early phase of HCMV infection by facilitating the ..
- Horizontal transmission of Marek's disease virus requires US2, the UL13 protein kinase, and gCKeith W Jarosinski
Department of Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
J Virol 81:10575-87. 2007..of most MDV BACs, including pRB-1B-5, derived from a very virulent MDV strain, involved replacement of the US2 gene with mini-F vector sequences...
- Cost effectiveness of selective decontamination of the digestive tract in liver transplant patientsP J van Enckevort
Office of Medical Technology Assessment, University Hospital Groningen, The Netherlands
Pharmacoeconomics 19:523-30. 2001..To assess the cost effectiveness of selective decontamination of the digestive tract (SDD) in liver transplant patients...
- Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type IIH von Bokhoven
Department of Human Genetics, University Hospital Nijmegen, The Netherlands
Genomics 19:385-7. 1994The human choroideremia-like (CHML) gene and a locus for Usher syndrome type 2 (USH2) were recently mapped to the 1q31-qter region employing physical mapping and genetic linkage studies, respectively...
- Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian familiesM L Tamayo
Instituto de Genetica Humana, Universidad Javeriana, Bogota, Colombia
Genet Couns 19:15-27. 2008..All six US2 families showed linkage to locus USH2A. Of them, 4 had c...
- Deletion mutant of human cytomegalovirus lacking US2-US6 and US11 maintains MHC class I expression and antigen presentation by infected dendritic cellsSusanne Schempp
Institut für Medizinische Virologie und Epidemiologie der Viruskrankheiten, Eberhard Karls Universitat Tubingen, Elfriede Aulhorn Str 6, 72076 Tubingen, Germany
Virus Res 155:446-54. 2011A HCMV mutant of endothelial- and DC-tropic strain TB40/E lacking the described MHC downregulating genes US2-6 and US11 (RVTB40/E(4)ΔUS11) was generated...
- Willingness to pay for cataract surgery in two regions of TanzaniaS Lewallen
Kilimanjaro Centre for Community Ophthalmology, PO Box 2254, Tumaini University KCMC, Moshi, Tanzania
Br J Ophthalmol 90:11-3. 2006..The authors sought to learn about willingness to pay for cataract surgery in two separate regions of Tanzania...
- Utilization of adsorption technique in the development of oral delivery system of lipid based nanoparticlesSubhashis Chakraborty
Department of Pharmaceutics, Institute of Technology, Banaras Hindu University, Varanasi 221005, Uttar Pradesh, India
Colloids Surf B Biointerfaces 81:563-9. 2010..Nanoparticles were then adsorbed by passing the nanodispersion through a Neusilin US2 (adsorbent) column...
- Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIaS Pieke-Dahl
Boys Town National Research Hospital, Omaha, NE 68131, USA
Hear Res 112:1-12. 1997..We evaluated rd3 as a candidate for orthology with USH2A by first reducing and refining the relatively broad region in which rd3 is thought to reside...
- Analysis of the complete genome of indigenous swine hepatitis E virus isolated in JapanH Okamoto
Immunology Division and Division of Molecular Virology, Jichi Medical School, Tochigi ken, 329 0498, Japan
Biochem Biophys Res Commun 289:929-36. 2001..and swJ791) showed the highest similarity of 83-87% to genotype III HEV representing human and swine strains (US1, US2, and swUS1) in the United States...
- Identification of two genes in the unique short region of pseudorabies virus; comparison with herpes simplex virus and varicella-zoster virusM van Zijl
Division of Molecular Genetics, The Netherlands Cancer Institute, Amsterdam
J Gen Virol 71:1747-55. 1990..Part of the amino acid sequence of 28K is homologous to the predicted US2 protein of HSV-1. Northern blot analysis revealed a 2.7 kb mRNA encoding the putative protein kinase and a 1...
- Dissimilar molecular defense responses are elicited in Triticum aestivum after infestation by different Diuraphis noxia biotypesDewald Zaayman
Department of Genetics, Forestry and Agricultural Biotechnology Institute, University of Pretoria, Hillcrest, Pretoria, South Africa
Physiol Plant 136:209-22. 2009..gene Dn7 by comparing responses following infestation with three different aphid biotypes (RWA-SA, RWA-US1 and RWA-US2)...
- Marek's disease virus (MDV) encodes an interleukin-8 homolog (vIL-8): characterization of the vIL-8 protein and a vIL-8 deletion mutant MDVM S Parcells
Center of Excellence for Poultry Science, Department of Poultry Science, University of Arkansas, Fayetteville, Arkansas 72701, USA
J Virol 75:5159-73. 2001..virus, and to another recombinant MDV containing the insertion of a GFP expression cassette at the nonessential US2 gene. RB1BvIL-8DeltasmGFP retained oncogenicity, albeit at a greatly reduced level...
- Cost-benefit analysis of active vaccination campaigns against hepatitis A among daycare centre personnel in IsraelG Chodick
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Pharmacoeconomics 19:281-91. 2001..To evaluate, in economic terms, active vaccination campaigns against hepatitis A in comparison with the use of nonspecific immune globulin for the prevention of the disease among daycare centre employees in Israel...
- Human cytomegalovirus US9 protein contains an N-terminal signal sequence and a C-terminal mitochondrial localization domain, and does not alter cellular sensitivity to apoptosisLana Mandic
Department of Microbiology and Immunology, Health Sciences Addition HSA320, The University of Western Ontario, London, ON N6A 5C1, Canada
J Gen Virol 90:1172-82. 2009The human cytomegalovirus (CMV) US2-US11 genomic region contains a cluster of genes whose products interfere with antigen presentation by the major histocompatibility complex (MHC) proteins...
- Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patientsR F Plantinga
Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands
Audiol Neurootol 10:79-89. 2005..showed a highly variable type and degree of progressive sensorineural hearing impairment: from normal to moderate USH2A-like hearing impairment at young ages to profound or even USH1B-like hearing impairment at more advanced ages...
- Evasion of CD8+ T cells is critical for superinfection by cytomegalovirusScott G Hansen
Vaccine and Gene Therapy Institute, Oregon Health and Science University, 505 Northwest 185th Avenue, Beaverton, OR 97006, USA
Science 328:102-6. 2010..of major histocompatibility complex class I (MHC-I) antigen presentation, particularly the homologs of human CMV US2, 3, 6, and 11...
- Comparative assessment of immunomodulating therapies for relapsing-remitting multiple sclerosisOmar Khan
Department of Neurology, Multiple Sclerosis Center, Wayne State University School of Medicine, D University Health Center, 4201 St Antoine, Detroit, MI 48201, USA
CNS Drugs 16:563-78. 2002..In a pharmaceutical environment with an estimated worldwide market of $US2.5 billion annually for RRMS, comparative studies are understandably provocative, but at the same time provide ..
- Complete genomic RNA sequence of the Polish Pepino mosaic virus isolate belonging to the US2 strainBeata Hasiów
Department of Virology and Bacteriology, Institute of Plant Protection, Miczurina 20, 60 318 Poznan, Poland
Virus Genes 36:209-14. 2008..This high level of nucleotide sequence identity between the Chilean and Polish PepMV-PK isolates suggest their common origin...
- Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorderMartin Poot
Department of Medical Genetics, University Medical Centre Utrecht, Mail stop KC 04 084 2, P O Box 85090, 3508, Utrecht, The Netherlands
Neurogenetics 11:81-9. 2010..Second, we found another de novo deletion on chromosome 1q41, containing 15 annotated genes, including KCTD3 and USH2A. Disruptions of the CNTNAP2 gene have been associated with ASD and with Gilles de la Tourette syndrome (GTS)...
- Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)M M Beneyto
Unidad de Genética y Diagnóstico Prenatal, Hospital La Fe, Spain
Ophthalmic Genet 21:123-8. 2000..genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41...
- Human cytomegalovirus-encoded US2 differentially affects surface expression of MHC class I locus products and targets membrane-bound, but not soluble HLA-G1 for degradationMartine T Barel
Department of Medical Microbiology, Leiden University Medical Center, Leiden, The Netherlands
J Immunol 171:6757-65. 2003..We focused on the HCMV unique short (US) region encoded protein US2, which binds to newly synthesized MHC class I H chains and supports their dislocation to the cytosol for subsequent ..
- Allogeneic adipose-derived stem cells with low immunogenicity constructing tissue-engineered bone for repairing bone defects in pigsMing Liang Ren
Department 4, State Key Laboratory of Trauma, Burn and Combined Injury, Research Institute of Surgery and Daping Hospital, Third Military Medical University, Chongqing, China
Cell Transplant 21:2711-21. 2012..In this study, we introduced human cytomegalovirus US2/US3 gene into the ADSCs to decrease the expression of MHC I protein of ADSCs and reduce the activation of T-cells ..
- Effect of soybean meal origin on standardized ileal amino acid digestibility in pigletsM Eklund
Institute of Animal Nutrition, University of Hohenheim, 70593 Stuttgart, Germany
J Anim Sci 90:188-90. 2012..in 4 batches of SBM originating either from Argentina (n = 1), Brazil (n = 1), or the United States (n = 2; US1 and US2)...
- Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patientsMaiko Miyagawa
Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
PLoS ONE 8:e71381. 2013..of mutations was counted, showing that those in GJB2 were exceptionally higher, followed by mutations in SLC26A4, USH2A, GPR98, MYO15A, COL4A5 and CDH23...
- Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2aRonald J E Pennings
Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands
Acta Ophthalmol Scand 82:131-9. 2004To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a).
- Ex vivo profiling of CD8+-T-cell responses to human cytomegalovirus reveals broad and multispecific reactivities in healthy virus carriersRebecca Elkington
Tumour Immunology Laboratory and Co Operative Centre for Vaccine Technology, Division of Infectious Diseases and Immunology, Queensland Institute of Medical Research, Australia
J Virol 77:5226-40. 2003..of viral proteins including structural, early/late antigens and HCMV-encoded immunomodulators (pp28, pp50, gH, gB, US2, US3, US6, and UL18) were also identified as potential targets for HCMV-specific CD8(+)-T-cell immunity...
- Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndromeM Hmani-Aifa
J Med Genet 39:281-3. 2002
- A single viral protein HCMV US2 affects antigen presentation and intracellular iron homeostasis by degradation of classical HLA class I and HFE moleculesSayeh Vahdati-Ben Arieh
Department of Cell Research and Immunology, The George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel
Blood 101:2858-64. 2003..In particular, we demonstrated in a transient expression system that human cytomegalovirus (HCMV) US2 targeted HFE for proteasomal degradation...
- Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaCristina Méndez-Vidal
Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Seville, Spain
Mol Vis 19:2187-95. 2013..In the present study, we investigated the genetic cause of autosomal recessive RP (arRP) in a Spanish family in which the causal mutation has not yet been identified with primer extension technology and resequencing...
- Suppression of CD8+ T-cell recognition in the immediate-early phase of human cytomegalovirus infectionJulia Hesse
Institute for Virology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
J Gen Virol 94:376-86. 2013..This interference is mediated primarily by endoplasmic reticulum-resident glycoproteins that are encoded in the US2-11 region of the viral genome...
- The Us2 gene product of herpes simplex virus 2 is a membrane-associated ubiquitin-interacting proteinMing Hsi Kang
Department of Biomedical and Molecular Sciences, Queen s University, Kingston, Canada
J Virol 87:9590-603. 2013The Us2 gene encodes a tegument protein that is conserved in most members of the Alphaherpesvirinae...
- A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type IISung Hyun Boo
Department of Otorhinolaryngology, Masan Samsung Hospital, Sungkyunkwan University School of Medicine, Masan, Korea
Clin Exp Otorhinolaryngol 6:41-4. 2013..It has been shown that mutations in the USH2A gene are responsible for USH2...
- Presentation of an immunodominant immediate-early CD8+ T cell epitope resists human cytomegalovirus immunoevasionStefanie Ameres
Clinical Cooperation Group Immunooncology, Department of Medicine III, Klinikum der Universitat Munchen, Helmholtz Zentrum Munchen, Munich, Germany
PLoS Pathog 9:e1003383. 2013..Resistance of HLA-C*0702 to viral immunoevasins US2 and US11 was mediated by the alpha3 domain and C-terminal region of the HLA heavy chain...
- Functional analysis of splicing mutations in MYO7A and USH2A genesT Jaijo
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avenida Campanar 21, Valencia, Spain
Clin Genet 79:282-8. 2011..Many disease-causative mutations have been identified in MYO7A and USH2A genes, which play a major role in Usher syndrome type I and type II, respectively...
- USHERIN: STRUCTURAL AND FUNCTIONAL ANALYSISDominic Cosgrove; Fiscal Year: 2006..In the preliminary results section of this proposal we show that the USH2A protein, which we call usherin, is an abundant basement membrane protein with widespread, but not ubiquitous, tissue distribution...
- ASSEMBLY OF MHC CLASS I MOLECULES IN VITRO AND IN VIVOHidde Ploegh; Fiscal Year: 2007..The stable membrane insertion or assembly of MHC class I molecules is targeted by HCMV through expression of the US2 and US11 gene products...
- GENERATION OF MODELS FOR USHER SYNDROMEWilliam Kimberling; Fiscal Year: 2004..Mutations in the USH2A gene account for over half of Usher syndrome cases and approximately 10% of autosomal recessive RP, which affects ..
- ELECTROPHYSIOLOGICAL STUDIES OF RETINAL DEGENERATIONSEliot Berson; Fiscal Year: 2007..define the rates of progression in patients with two relatively common subgroups of retinitis pigmentosa caused by USH2A or RPGR mutations, respectively...
- Evasion of Antigen Presentation by Rhesus CytomegalovirusKLAUS J FRUEH; Fiscal Year: 2011..We recently demonstrated that super-infection by CMV is enabled by the viral US2-11 glycoproteins -US2, US3, US6 and US11- all of which inhibiting antigen presentation by major histocompatibility ..
- USHERIN: STRUCTURAL AND FUNCTIONAL ANALYSISDOMINIC E COSGROVE; Fiscal Year: 2010..This proposal tests the hypothesis that the functional connection is a process called protein translocation, which may pinpoint the defective process that causes deafness and blindness in Usher patients. ..
- ASSEMBLY OF MHC CLASS I MOLECULES IN VITRO AND IN VIVOHidde L Ploegh; Fiscal Year: 2010..HCMV accomplishes this through the action of at least two small type I membrane glycoproteins, US2 and US11...
- Degradation of membrane proteins: new chemical probesHidde Ploegh; Fiscal Year: 2004..This pathway is exemplified by the degradation of MHC class I molecules in cells that express the HCMV US2 or US11 products, both of which dramatically enhance the rate of degradation...
- STUDIES ON THE STRUCTURE OF BASEMENT MEMBRANESBILLY GERALD HUDSON; Fiscal Year: 2010..It contains binding sites for usherin, a defective protein in Usher syndrome, for bacterial Dr adhesins in chronic pyelonephritis, and for integrins...
- REGULATION OF YEAST RIBOSOMAL PROTEIN GENE EXPRESSIONJohn Woolford; Fiscal Year: 1990..expression of the RP59 (CRY) genes, encoding sensitivity or resistance to the antibiotic cryptopleurine, and the RP39 genes. RP39 lacZ gene fusions will be used to conveniently assay RP39 expression...
- HCMV US2 & US11 Inhibition of MHC Class II PresentationDavid Johnson; Fiscal Year: 2007..We described effects of HCMV US2 and US3 on MHC class II antigen presentation to CD4+ T cells...
- HCMV US2 INHIBITS MHC CLASS II ANTIGEN PRESENTATIONDavid Johnson; Fiscal Year: 2004..The applicant has recently reported an HCMV protein, US2, which is the first-described viral inhibitor of the MHC class II antigen presentation pathway that signals virus ..
- Luminescent assay:ER dislocation inhibitors (RMI)Domenico Tortorella; Fiscal Year: 2004..The human cytomegalovirus (HCMV) encoded gene products US2 and US11 mediate the destruction of the immunologically essential membrane protein MHC class I heavy chain...
- Characterization of SLE-Susceptability Loci on Mouse Chromosome 1Laurence Morel; Fiscal Year: 2010..recombinants has identified two positional candidates for Sle1c-2, Erssg (estrogen-related receptor 3) and Ush2a (Usherin). To characterize these candidate genes, we have three specific aims...
- Evasion of Antigen Presentation by Rhesus CytomegalovirusKlaus Frueh; Fiscal Year: 2007..inhibitors of MHC assembly that are functional and sequence homologues of the HCMV US6-family of glycoproteins US2, US3, US6 and US11...
- Evasion of Antigen Presentation by Rhesus CytomegalovirusKlaus Frueh; Fiscal Year: 2009..inhibitors of MHC assembly that are functional and sequence homologues of the HCMV US6-family of glycoproteins US2, US3, US6 and US11...
- MHC-1 Regulation by HerpesvirusTED HOWARD HANSEN; Fiscal Year: 2010..It is now clear that immune evasion proteins US2 and US11 of HCMV and mK3 of gammaHV68 co-opt and greatly expedite ERAD, a normal physiologic pathway for ..
- CMV DISRUPTION OF CONSTITUTIVE MHC CLASS IIDaniel Sedmak; Fiscal Year: 2002..MHC class II expression has been expanded to include inhibition of constitutively expressed class II, by its gene US2. Using a constitutive HLA class II expressing cell line, we have found a major CMV-mediated decrease in surface ..
- VIRAL EVASION STRATEGIES: ANALYSIS OF HERPES VIRUSES HSV, VZV AND HHV-6-7Hidde Ploegh; Fiscal Year: 2007..Several of these genes, notably US2, US3, US6 and US 11, are known to interfere with MHC class I restricted antigen presentation when analyzed in ..
- CMV DISRUPTION OF CONSTITUTIVE MHC CLASS IIW Waldman; Fiscal Year: 2004..MHC class II expression has been expanded to include inhibition of constitutively expressed class II, by its gene US2. Using a constitutive HLA class II expressing cell line, we have found a major CMV-mediated decrease in surface ..