GPR98

Summary

Gene Symbol: GPR98
Description: G protein-coupled receptor 98
Alias: FEB4, MASS1, USH2B, USH2C, VLGR1, VLGR1b, G-protein coupled receptor 98, monogenic audiogenic seizure susceptibility protein 1 homolog, monogenic, audiogenic seizure susceptibility 1 homolog, usher syndrome type-2C protein, very large G protein-coupled receptor 1, very large G-protein coupled receptor 1
Species: human

Top Publications

  1. pmc Genome-wide association with bone mass and geometry in the Framingham Heart Study
    Douglas P Kiel
    Hebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 8:S14. 2007
  2. ncbi A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
    Tina Maerker
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany
    Hum Mol Genet 17:71-86. 2008
  3. doi Non-USH2A mutations in USH2 patients
    Thomas Besnard
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 33:504-10. 2012
  4. ncbi The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
    Erwin Van Wijk
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:751-65. 2006
  5. pmc Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    Michael D Weston
    Center for the Study and Treatment of Usher Syndrome, Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Am J Hum Genet 74:357-66. 2004
  6. ncbi Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain
    H Nikkila
    Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
    Mol Endocrinol 14:1351-64. 2000
  7. ncbi Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system
    D Randy McMillan
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
    J Biol Chem 277:785-92. 2002
  8. doi Audiological findings in 100 USH2 patients
    C Abadie
    CHU Montpellier, Laboratoire de Genetique Moleculaire, 641 Avenue du Doyen Gaston Giraud, Montpellier, France
    Clin Genet 82:433-8. 2012
  9. ncbi Discovery of a superhard iron tetraboride superconductor
    Huiyang Gou
    Bayerisches Geoinstitut, Universitat Bayreuth, D 95440 Bayreuth, Germany and Laboratory of Crystallography, Material Physics and Technology at Extreme Conditions, University of Bayreuth, D 95440 Bayreuth, Germany
    Phys Rev Lett 111:157002. 2013
  10. doi Investigation of the molecular response to folate metabolism inhibition
    Nicola Carroll
    Nutritional Genomics Group, School of Biotechnology, Dublin City University Dublin 9, Ireland
    J Nutr Biochem 23:1531-6. 2012

Research Grants

  1. Functions of Very Large G-protein Coupled Receptor-1
    Perrin White; Fiscal Year: 2007
  2. GENETICS,MOLECULAR BIOLANDPHARMACOLOGICS--EPILEPSY GENES
    Louis Ptacek; Fiscal Year: 2002
  3. Clinical trials of gene therapy for Leber congenital amaurosis
    Samuel Jacobson; Fiscal Year: 2007
  4. RISK FACTORS FOR AGED RELATED BONE LOSS
    Douglas P Kiel; Fiscal Year: 2010
  5. RISK FACTORS FOR AGED RELATED BONE LOSS
    Douglas P Kiel; Fiscal Year: 2010
  6. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
  7. PATHOGENESIS OF RETINAL DEGENERATIONS
    Samuel Jacobson; Fiscal Year: 2001
  8. Low Magnitude Mechanical Stimulation to Improve BMD
    Douglas P Kiel; Fiscal Year: 2010

Scientific Experts

Detail Information

Publications72

  1. pmc Genome-wide association with bone mass and geometry in the Framingham Heart Study
    Douglas P Kiel
    Hebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 8:S14. 2007
    ..There have been no genome-wide association and linkage studies for these traits using high-density genotyping platforms...
  2. ncbi A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
    Tina Maerker
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany
    Hum Mol Genet 17:71-86. 2008
    ..SANS provides a linkage to the microtubule transport machinery, whereas whirlin may anchor USH2A isoform b and VLGR1b (very large G-protein coupled receptor 1b) via binding to their cytodomains at specific membrane domains...
  3. doi Non-USH2A mutations in USH2 patients
    Thomas Besnard
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 33:504-10. 2012
    We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A...
  4. ncbi The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
    Erwin Van Wijk
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:751-65. 2006
    ..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...
  5. pmc Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    Michael D Weston
    Center for the Study and Treatment of Usher Syndrome, Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Am J Hum Genet 74:357-66. 2004
    ..a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes (USH2A, USH2B, and USH2C) and is classified phenotypically as congenital hearing loss and progressive retinitis pigmentosa...
  6. ncbi Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain
    H Nikkila
    Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
    Mol Endocrinol 14:1351-64. 2000
    ..receptor is one of the largest known and is therefore referred to as a very large G protein-coupled receptor, or VLGR1. It is most closely related to the secretin family of G protein-coupled receptors based on similarity of the ..
  7. ncbi Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system
    D Randy McMillan
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
    J Biol Chem 277:785-92. 2002
    ..The longest gene product, VLGR1b, is 6307 amino acids (6298 amino acids in mice) due to a much larger ectodomain containing 35 calcium exchanger ..
  8. doi Audiological findings in 100 USH2 patients
    C Abadie
    CHU Montpellier, Laboratoire de Genetique Moleculaire, 641 Avenue du Doyen Gaston Giraud, Montpellier, France
    Clin Genet 82:433-8. 2012
    ..a total of 100 USH2 patients (92 families) divided into three groups according to the gene involved: 88 USH2A, 10 GPR98 and 2 DFNB31 patients...
  9. ncbi Discovery of a superhard iron tetraboride superconductor
    Huiyang Gou
    Bayerisches Geoinstitut, Universitat Bayreuth, D 95440 Bayreuth, Germany and Laboratory of Crystallography, Material Physics and Technology at Extreme Conditions, University of Bayreuth, D 95440 Bayreuth, Germany
    Phys Rev Lett 111:157002. 2013
    Single crystals of novel orthorhombic (space group Pnnm) iron tetraboride FeB4 were synthesized at pressures above 8 GPa and high temperatures...
  10. doi Investigation of the molecular response to folate metabolism inhibition
    Nicola Carroll
    Nutritional Genomics Group, School of Biotechnology, Dublin City University Dublin 9, Ireland
    J Nutr Biochem 23:1531-6. 2012
    ..9, low-density lipoprotein receptor-related protein 11, chromosome 21 orf15, G-protein-coupled receptor 98 (GPR98) and cystathionine-beta-synthase (CBS)...
  11. doi A new function of ROD1 in nonsense-mediated mRNA decay
    T F Brazão
    Department of Cell Biology and Genetics, Erasmus MC, Rotterdam, The Netherlands
    FEBS Lett 586:1101-10. 2012
    ..Finally, we show through RIP-seq that ROD1 and UPF1 associate with a significant number of common transcripts...
  12. pmc Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome
    M Hmani-Aifa
    J Med Genet 39:281-3. 2002
  13. doi Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
    Sedigheh Delmaghani
    Institut Pasteur, Unite de Genetique et Physiologie de l Audition, Paris, France
    Hum Mol Genet 21:3835-44. 2012
    ..The mammalian EAR protein family includes six known members. Defects in four of them, i.e. Lgi1, Lgi2, Vlgr1 and, we show here, TSPEAR, cause disorders with auditory features: epilepsy, which can include auditory features ..
  14. pmc Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    PLoS ONE 8:e71381. 2013
    ..was counted, showing that those in GJB2 were exceptionally higher, followed by mutations in SLC26A4, USH2A, GPR98, MYO15A, COL4A5 and CDH23...
  15. pmc The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
    Gema García-García
    INSERM, U827, Montpellier F 34000, France
    Mol Vis 19:367-73. 2013
    ..To date, three disease-causing genes have been identified, USH2A, GPR98, and DFNB31, of which USH2A is clearly the major contributor...
  16. doi The very large G protein coupled receptor (Vlgr1) in hair cells
    Jin Peng Sun
    Key Laboratory for Experimental Teratology of the Ministry of Education, Shandong University, Jinan, Shandong, China
    J Mol Neurosci 50:204-14. 2013
    The very large G protein coupled receptor (Vlgr1) is a member of adhesion receptors or large N-terminal family B-7 transmembrane helixes (LNB7TM) receptors within the seven trans-membrane receptor superfamily...
  17. pmc Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
    M Hamed Grati
    Laboratory of Cell Structure and Dynamics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Neurosci 32:14288-93. 2012
    ..Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98...
  18. pmc Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells
    Marisa Zallocchi
    Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    J Neurosci 32:13841-59. 2012
    ..mouse cochleae and UB/OC-1 cells were used in this work to address whether specific variants of PCDH15 and VLGR1 are being selectively transported to opposite poles of the hair cells...
  19. doi GPR98/Gpr98 gene is involved in the regulation of human and mouse bone mineral density
    Tomohiko Urano
    Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7 3 1, Hongo, Bumkyo ku, Tokyo 113 8655, Japan
    J Clin Endocrinol Metab 97:E565-74. 2012
    ..Genetic factors are important in the development of osteoporosis...
  20. pmc The expression of whirlin and Cav1.3α₁ is mutually independent in photoreceptors
    Junhuang Zou
    Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah, Salt Lake City, UT 84132, United States
    Vision Res 75:53-9. 2012
    ..through binding to proteins encoded by other USH2 genes, usherin (USH2A) and G-protein-coupled receptor 98 (GPR98). Recently, Ca(v)1...
  21. pmc PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    J Clin Invest 120:1812-23. 2010
    ..were present in patients with truncating mutations in USH2A, G protein-coupled receptor 98 (GPR98; also known as USH2C), and an unidentified locus...
  22. pmc Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study
    Ervin R Fox
    Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA
    Hum Mol Genet 20:2273-84. 2011
    ..For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 × 10(-8)) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 × 10(-8))...
  23. pmc Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs
    D E Adkins
    Center for Biomarker Research and Personalized Medicine, School of Pharmacy, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA 23223, USA
    Mol Psychiatry 16:321-32. 2011
    ..055). Genomewide significant finding were also found for SNPs in PRKAR2B, GPR98, FHOD3, RNF144A, ASTN2, SOX5 and ATF7IP2, as well as in several intergenic markers...
  24. ncbi Normalizing lower extremity strength data for children, adolescents, and young adults with cerebral palsy
    Tishya A L Wren
    Childrens Orthopaedic Center, Childrens Hospital Los Angeles, Los Angeles, CA, USA
    J Appl Biomech 25:195-202. 2009
    ..Traditional mass normalization (Torque/Mass1.0) and allometric scaling equations from children without disability (Torque/Mass1...
  25. doi Microarray-based mutation analysis of 183 Spanish families with Usher syndrome
    Teresa 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...
  26. doi Deficiency of Vlgr1 resulted in deafness and susceptibility to audiogenic seizures while the degree of hearing impairment was not correlated with seizure severity in C57BL/6- and 129-backcrossed lines of Vlgr1 knockout mice
    Hideshi Yagi
    Division of Cell Biology and Neuroscience, Department of Morphological and Physiological Sciences, Faculty of Medical Sciences, University of Fukui, Fukui 910 1193, Japan
    Neurosci Lett 461:190-5. 2009
    b>Vlgr1 (very large G-protein coupled receptor 1) knockout mice against hybrid backgrounds of the 129/Ola and C57BL/6 mouse strains show hearing deficit and high susceptibility to audiogenic seizures...
  27. pmc A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
    Hartmut Engels
    Institute of Human Genetics, Rheinische Friedrich Wilhelms University, Bonn, Germany
    Eur J Hum Genet 17:1592-9. 2009
    ..3 was defined. It included five genes: CETN3, AC093510.2, POLR3G, LYSMD3 and the proximal part of GPR98/MASS1, a known epilepsy gene...
  28. doi GPR98 mutations cause Usher syndrome type 2 in males
    I Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Kerpener Str 34, 50931 Cologne, Germany
    J Med Genet 46:277-80. 2009
    Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98 mutations cause a more severe, and eventually lethal, phenotype in males...
  29. pmc Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss
    Jun Yang
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America
    PLoS Genet 6:e1000955. 2010
    ..domains of the long whirlin isoform mediates the formation of a multi-protein complex that includes usherin and VLGR1, both of which are also implicated in USH2...
  30. doi Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
    Christel Vache
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 31:734-41. 2010
    ..known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2...
  31. pmc Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors
    Junhuang Zou
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, Utah 84132, USA
    Invest Ophthalmol Vis Sci 52:2343-51. 2011
    ..Mutations in this gene cause disruption of the USH2 protein complex composed of USH2A and VLGR1 at the periciliary membrane complex (PMC) in photoreceptors...
  32. pmc Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    Polona Le Quesne Stabej
    Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK
    J Med Genet 49:27-36. 2012
    ..This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance...
  33. doi Research resource: transcriptional response to glucocorticoids in childhood acute lymphoblastic leukemia
    Johannes Rainer
    Division of Molecular Pathophysiology, Biocenter, Medical University of Innsbruck, A 6020 Innsbruck, Austria
    Mol Endocrinol 26:178-93. 2012
    ..Exon level analysis defined several new GC-regulated transcript variants of genes, including ATP4B, GPR98, TBCD, and ZBTB16...
  34. ncbi Studies on the very large G protein-coupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animals
    D Randy McMillan
    Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390 9063, USA
    Adv Exp Med Biol 706:76-86. 2010
    The very large G protein-coupled receptor 1 (VLGRI), also known as MASS1 or GPR98, is most notable among the family of adhesion-GPCR for its size. Encoded by an 18...
  35. doi Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less
    Vijay Tonk
    Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, USA
    Am J Med Genet A 155:1437-41. 2011
    ..of MEF2C with the deleted febrile seizure (FEB4) and juveline myoclonic epilepsy (EJM4) loci plus the G-protein receptor (GPR98/MASS1/Usher syndrome) gene may moderate the phenotype, perhaps through common regulation by calcium.
  36. pmc Genetic heterogeneity of Usher syndrome type II
    S Pieke Dahl
    Genetics Department, Boys Town National Research Hospital, Omaha, NE 68131
    J Med Genet 30:843-8. 1993
    ..Heterogeneity of Usher syndrome type II complicates efforts to isolate and clone Usher syndrome genes using linkage analysis and limits the use of DNA markers in early detection of Usher type II...
  37. pmc An update on the genetics of usher syndrome
    Jose M Millan
    Unidad de Genetica, Instituto de Investigación Sanitaria La Fe, 46009 Valencia, Spain
    J Ophthalmol 2011:417217. 2011
    ..Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D). USH3 is rare except in certain populations, and the gene responsible for this type is USH3A.
  38. ncbi New superconducting and semiconducting Fe-B compounds predicted with an ab initio evolutionary search
    A N Kolmogorov
    Department of Materials, University of Oxford, Parks Road, Oxford OX1 3PH, United Kingdom
    Phys Rev Lett 105:217003. 2010
    ..We show that the proposed oP12-FeB2 stabilizes by a break up of 2D boron layers into 1D chains while oP10-FeB4 stabilizes by a distortion of a 3D boron network...
  39. doi A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
    N Hilgert
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    J Med Genet 46:272-6. 2009
    ..b>USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function...
  40. pmc Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
    Mounira Hmani-Aifa
    Unite Cibles pour le Diagnostic et la Therapie, Centre de Biotechnologie de Sfax, Tunisie
    Eur J Hum Genet 17:474-82. 2009
    ..Indeed, linkage analysis disclosed the cosegregation of the USH2 phenotype with the USH2C locus markers, D5S428 and D5S618, whereas the ARRP perfectly segregates with PDE6B flanking markers D4S3360 and ..
  41. ncbi Vlgr1 knockout mice show audiogenic seizure susceptibility
    Hideshi Yagi
    Division of Cell Biology and Neuroscience, Department of Morphological and Physiological Sciences, Faculty of Medical Sciences, University of Fukui, Japan
    J Neurochem 92:191-202. 2005
    ..Here we identified Vlgr1d and Vlgr1e, novel alternatively-spliced variants of Vlgr1b/MGR1, which, upon sequence analysis, were shown to be transcripts from a locus previously characterized as mass1...
  42. ncbi c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse
    Brian D Klein
    Department of Pharmacology and Toxicology, 20 S 2030 E Rm 408, Salt Lake City, UT 84112, USA
    Epilepsy Res 62:13-25. 2004
    ..responsible for the AGS phenotype in the Frings mouse has been named monogenic audiogenic seizure-susceptible (MASS1)...
  43. ncbi Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice
    D Randy McMillan
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390 9063, USA
    Mol Cell Neurosci 26:322-9. 2004
    At approximately 6300 amino acids, very large G-protein-coupled receptor-1 (VLGR1, also termed Mass1) is the largest known cell surface protein...
  44. ncbi A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
    Junko Nakayama
    Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8575, Japan
    Ann Neurol 52:654-7. 2002
    A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures...
  45. ncbi Molecular genetics of febrile seizures
    Nobuaki Iwasaki
    Departments of Pediatrics, Institute of Clinical Medicine, and Medical Genetics, Institute of Basic Medicine, University of Tsukuba, Japan
    Epilepsia 43:32-5. 2002
    ..in 39 nuclear families using nonparametric allele-sharing methods, and found a new FS susceptibility locus, FEB4 (chromosome 5q14-q15)...
  46. ncbi The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders
    Eike Staub
    metaGen Pharmaceuticals GmbH, Oudenarder Strasse 16, D 13347 Berlin, Germany
    Trends Biochem Sci 27:441-4. 2002
    ..Genes encoding proteins of this family are located in genomic regions associated with epilepsy and other neurological disorders...
  47. ncbi A common protein interaction domain links two recently identified epilepsy genes
    Hartmut Scheel
    Bioinformatics Group, MEMOREC Stoffel GmbH, Stöckheimer Weg 1, D 50829 Köln, Germany
    Hum Mol Genet 11:1757-62. 2002
    ..Two apparent exceptions to this rule are the MASS1 gene, which is mutated in the Frings mouse model of audiogenic epilepsy, and the LGI1 gene, which is mutated in ..
  48. ncbi Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A
    M Ito
    Department of Pediatrics, Shiga Medical Center for Children, 5 7 30 Moriyama, Moriyama 524 0022, Japan
    Epilepsy Res 48:15-23. 2002
    ..loci for febrile seizures have been suggested to date; FEB1 on 8q13-q21, FEB2 on 19p, FEB3 on 2q23-q24, and FEB4 on 5q14-15...
  49. ncbi A novel gene causing a mendelian audiogenic mouse epilepsy
    S L Skradski
    Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA
    Neuron 31:537-44. 2001
    ..Study of the MASS1 protein will lead to new insights into regulation of neuronal excitability and a new pathway through which ..
  50. ncbi Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family
    S Waldegger
    Zentrum für Molekulare Neurobiologie ZMNH, University of Hamburg, Germany corrected
    Genomics 72:43-50. 2001
    ..We determined the genomic structure of the SLC26A6 gene and excluded mutations in the 21 coding exons as the cause of DFNB6 and USH2B, which closely map to the SLC26A6 chromosomal locus (3p21).
  51. pmc Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
    S Pieke-Dahl
    Genetics Department, Boys Town National Research Hospital, 555 N 30th Street, Omaha, NE 68131 USA
    J Med Genet 37:256-62. 2000
    ..Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II...
  52. ncbi The usher syndromes
    B J Keats
    Department of Biometry and Genetics, LSU Medical Center, New Orleans, LA 70112, USA
    Am J Med Genet 89:158-66. 1999
    ..1, 10q, 21q21, and 10, respectively, while USH2B is on 5q, and USH3 is at 3q21-q25...
  53. ncbi Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
    J Nakayama
    Department of Medical Genetics, Institute of Basic Medical Sciences, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan
    Hum Mol Genet 9:87-91. 2000
    ..These findings indicate that there is a gene on chromosome 5q14-q15 that confers susceptibility to FSs and we call this gene FEB4.
  54. ncbi A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
    M Hmani
    Laboratoire d Immunologie et de Biologie Moléculaire, Faculte de Medecine, Sfax, Tunisia
    Eur J Hum Genet 7:363-7. 1999
    ..This maps the gene underlying USH2B to a chromosomal region which overlaps the interval defined for the non-syndromic sensorineural recessive deafness ..
  55. ncbi Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype
    Sharon B Schwartz
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 46:734-43. 2005
    To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome.
  56. pmc The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC
    K R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Genomics 85:582-90. 2005
    ..in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C)...
  57. ncbi Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish
    Yann Gibert
    Department of Biology, University of Konstanz, 78457 Konstanz, Germany
    Gene 353:200-6. 2005
    Very Large G-protein coupled Receptor-1 (VLGR1/Mass1/USH2C) is the largest known cell surface protein in vertebrates...
  58. doi Secular trends and distributional changes in health and fitness performance variables of 10-14-year-old children in New Zealand between 1991 and 2003
    H M Albon
    Environment Society and Design Division, Lincoln University, Canterbury 7647, New Zealand
    Br J Sports Med 44:263-9. 2010
    ....
  59. pmc Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 17:2405-15. 2008
    ..Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (USH1B)...
  60. pmc Increase in tracheal investment with beetle size supports hypothesis of oxygen limitation on insect gigantism
    Alexander Kaiser
    Department of Basic Sciences, Midwestern University, Glendale, AZ 85308, USA
    Proc Natl Acad Sci U S A 104:13198-203. 2007
    ..larger insects devote a greater fraction of their body to the respiratory system, as tracheal volume scaled with mass1.29...
  61. ncbi Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
    Nicolas Michalski
    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche en Santé 587, College de France, Institut Pasteur, 75724 Paris Cedex 15, France
    J Neurosci 27:6478-88. 2007
    Several lines of evidence indicate that very large G-protein-coupled receptor 1 (Vlgr1) makes up the ankle links that connect the stereocilia of hair cells at their base...
  62. ncbi Vlgr1 is required for proper stereocilia maturation of cochlear hair cells
    Hideshi Yagi
    Division of Cell Biology and Neuroscience, Department of Morphological and Physiological Sciences, University of Fukui, Fukui 910 1193, Japan
    Genes Cells 12:235-50. 2007
    Very large G-protein coupled receptor (Vlgr1b) is the largest known G-protein coupled receptor...
  63. ncbi A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    Inga 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)...
  64. ncbi Molecular genetics of febrile seizures
    Junko Nakayama
    Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki 305 8575, Japan
    Epilepsy Res 70:S190-8. 2006
    ..susceptibility FS loci have been identified on chromosomes 8q13-q21 (FEB1), 19p (FEB2), 2q23-q24 (FEB3), 5q14-q15 (FEB4), 6q22-q24 (FEB5), and 18p11 (FEB6)...
  65. pmc The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles
    Joann McGee
    Developmental Auditory Physiology Laboratory, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    J Neurosci 26:6543-53. 2006
    ..as the avian ortholog of the very large G-protein-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus. Like ankle links, Vlgr1 is expressed transiently around the base of developing hair bundles in mice...
  66. pmc Strain background effects and genetic modifiers of hearing in mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Brain Res 1091:79-88. 2006
    ..This variant also was shown to modify hearing loss associated with the Atp2b2(dfw-2J) and Mass1(frings) mutations...
  67. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan 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 transmembrane protein USH2A, also termed USH2A ("usherin") and the G-protein-coupled 7-transmembrane receptor VLGR1b (USH2C), respectively, whereas the USH3A gene encodes clarin-1, a member of the clarin family which exhibits 4-..
  68. ncbi Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
    Jan Reiners
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany
    Hum Mol Genet 14:3933-43. 2005
    ..We show a molecular interaction between the scaffold protein harmonin (USH1C) and the USH2A protein, VLGR1 (USH2C) and the candidate for USH2B, NBC3...
  69. ncbi Auditory deficits associated with the frings mgr1 (mass1) mutation in mice
    Brian D Klein
    Department of Pharmacology and Toxicology, Howard Hughes Medical Institute, Salt Lake City, Utah 84112, USA
    Dev Neurosci 27:321-32. 2005
    ..for the audiogenic seizure (AGS) phenotype in Frings mice, which was identified and originally designated Mass1, is now referred to as Mgr1...
  70. ncbi Genetic mapping of a locus (mass1) causing audiogenic seizures in mice
    S L Skradski
    Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA
    Genomics 49:188-92. 1998
    ..and linkage analysis of hybrid mice using MIT microsatellite marker sequences localized the seizure gene, named mass1 for monogenic audiogenic seizure susceptible, to an approximately 3...

Research Grants25

  1. Functions of Very Large G-protein Coupled Receptor-1
    Perrin White; Fiscal Year: 2007
    The orphan 7-transmembrane segment receptor, Very Large G-protein coupled Receptor-1 (VLGR1, also termed Massl), is the largest known extracellular protein...
  2. GENETICS,MOLECULAR BIOLANDPHARMACOLOGICS--EPILEPSY GENES
    Louis Ptacek; Fiscal Year: 2002
    ..e., asp1, asp2, and asp3). We have mapped the monogenic audiogenic seizure-susceptible (mass1) locus of the Frings mouse to an approximately 2 cM region on chromosome 13...
  3. Clinical trials of gene therapy for Leber congenital amaurosis
    Samuel Jacobson; Fiscal Year: 2007
    ....
  4. RISK FACTORS FOR AGED RELATED BONE LOSS
    Douglas P Kiel; Fiscal Year: 2010
    ..Second it will identify genes as well as nutritional factors such as the B-vitamins and dietary fat that work together to increase the risk for osteoporosis. ..
  5. RISK FACTORS FOR AGED RELATED BONE LOSS
    Douglas P Kiel; Fiscal Year: 2010
    ..Ultimately this could lead to the development of new treatments for osteoporosis. ..
  6. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
    ....
  7. PATHOGENESIS OF RETINAL DEGENERATIONS
    Samuel Jacobson; Fiscal Year: 2001
    ..The results of this research will lead to the formulation of hypotheses about the underlying molecular events in these diseases and may evolve into recommendations for treatment paradigms in these blinding retinal degenerations. ..
  8. Low Magnitude Mechanical Stimulation to Improve BMD
    Douglas P Kiel; Fiscal Year: 2010
    ..The significance of the study is that it will test the efficacy of this unique intervention to improve multiple components of the musculoskeletal system that contribute to fracture risk. ..