Genomes and Genes
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
- Genome-wide association with bone mass and geometry in the Framingham Heart StudyDouglas 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...
- A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cellsTina 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...
- Non-USH2A mutations in USH2 patientsThomas Besnard
CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
Hum Mutat 33:504-10. 2012We 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...
- 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..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...
- Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type IIMichael 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...
- Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domainH 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 ..
- Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous systemD 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 ..
- Audiological findings in 100 USH2 patientsC 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...
- Discovery of a superhard iron tetraboride superconductorHuiyang 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. 2013Single crystals of novel orthorhombic (space group Pnnm) iron tetraboride FeB4 were synthesized at pressures above 8 GPa and high temperatures...
- Investigation of the molecular response to folate metabolism inhibitionNicola 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)...
- A new function of ROD1 in nonsense-mediated mRNA decayT 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...
- Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndromeM Hmani-Aifa
J Med Genet 39:281-3. 2002
- Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafnessSedigheh 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 ..
- 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..was counted, showing that those in GJB2 were exceptionally higher, followed by mutations in SLC26A4, USH2A, GPR98, MYO15A, COL4A5 and CDH23...
- The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohortGema 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...
- The very large G protein coupled receptor (Vlgr1) in hair cellsJin Peng Sun
Key Laboratory for Experimental Teratology of the Ministry of Education, Shandong University, Jinan, Shandong, China
J Mol Neurosci 50:204-14. 2013The 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...
- Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein networkM 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...
- Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cellsMarisa 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...
- GPR98/Gpr98 gene is involved in the regulation of human and mouse bone mineral densityTomohiko 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...
- The expression of whirlin and Cav1.3α₁ is mutually independent in photoreceptorsJunhuang 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...
- PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga 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...
- Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource studyErvin 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))...
- Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugsD 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...
- Normalizing lower extremity strength data for children, adolescents, and young adults with cerebral palsyTishya 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...
- 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...
- 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 miceHideshi 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. 2009b>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...
- A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsHartmut 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...
- GPR98 mutations cause Usher syndrome type 2 in malesI Ebermann
Institute of Human Genetics, University Hospital of Cologne, Kerpener Str 34, 50931 Cologne, Germany
J Med Genet 46:277-80. 2009Mutations 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...
- Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing lossJun 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...
- Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel 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...
- Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptorsJunhuang 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...
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona 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...
- Research resource: transcriptional response to glucocorticoids in childhood acute lymphoblastic leukemiaJohannes 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...
- Studies on the very large G protein-coupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animalsD Randy McMillan
Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390 9063, USA
Adv Exp Med Biol 706:76-86. 2010The 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...
- Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is lessVijay 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.
- Genetic heterogeneity of Usher syndrome type IIS 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...
- An update on the genetics of usher syndromeJose 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.
- New superconducting and semiconducting Fe-B compounds predicted with an ab initio evolutionary searchA 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...
- A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian familyN 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...
- Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian familyMounira 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 ..
- Vlgr1 knockout mice show audiogenic seizure susceptibilityHideshi 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...
- c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouseBrian 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)...
- Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in miceD Randy McMillan
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390 9063, USA
Mol Cell Neurosci 26:322-9. 2004At approximately 6300 amino acids, very large G-protein-coupled receptor-1 (VLGR1, also termed Mass1) is the largest known cell surface protein...
- A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizuresJunko Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8575, Japan
Ann Neurol 52:654-7. 2002A 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...
- Molecular genetics of febrile seizuresNobuaki 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)...
- The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disordersEike 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...
- A common protein interaction domain links two recently identified epilepsy genesHartmut 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 ..
- Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1AM 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...
- A novel gene causing a mendelian audiogenic mouse epilepsyS 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 ..
- Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene familyS 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).
- Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5qS 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...
- The usher syndromesB 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...
- Significant evidence for linkage of febrile seizures to chromosome 5q14-q15J 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.
- A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2M 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 ..
- Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeSharon B Schwartz
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 46:734-43. 2005To 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.
- The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IICK 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)...
- Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafishYann Gibert
Department of Biology, University of Konstanz, 78457 Konstanz, Germany
Gene 353:200-6. 2005Very Large G-protein coupled Receptor-1 (VLGR1/Mass1/USH2C) is the largest known cell surface protein in vertebrates...
- Secular trends and distributional changes in health and fitness performance variables of 10-14-year-old children in New Zealand between 1991 and 2003H M Albon
Environment Society and Design Division, Lincoln University, Canterbury 7647, New Zealand
Br J Sports Med 44:263-9. 2010....
- Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanismSamuel 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)...
- Increase in tracheal investment with beetle size supports hypothesis of oxygen limitation on insect gigantismAlexander 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...
- Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioningNicolas 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. 2007Several 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...
- Vlgr1 is required for proper stereocilia maturation of cochlear hair cellsHideshi 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. 2007Very large G-protein coupled receptor (Vlgr1b) is the largest known G-protein coupled receptor...
- 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)...
- Molecular genetics of febrile seizuresJunko 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)...
- The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundlesJoann 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...
- Strain background effects and genetic modifiers of hearing in miceKenneth 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...
- 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 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-..
- 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..We show a molecular interaction between the scaffold protein harmonin (USH1C) and the USH2A protein, VLGR1 (USH2C) and the candidate for USH2B, NBC3...
- Auditory deficits associated with the frings mgr1 (mass1) mutation in miceBrian 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...
- Genetic mapping of a locus (mass1) causing audiogenic seizures in miceS 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...
- Functions of Very Large G-protein Coupled Receptor-1Perrin White; Fiscal Year: 2007The orphan 7-transmembrane segment receptor, Very Large G-protein coupled Receptor-1 (VLGR1, also termed Massl), is the largest known extracellular protein...
- GENETICS,MOLECULAR BIOLANDPHARMACOLOGICS--EPILEPSY GENESLouis 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...
- Clinical trials of gene therapy for Leber congenital amaurosisSamuel Jacobson; Fiscal Year: 2007....
- RISK FACTORS FOR AGED RELATED BONE LOSSDouglas 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. ..
- RISK FACTORS FOR AGED RELATED BONE LOSSDouglas P Kiel; Fiscal Year: 2010..Ultimately this could lead to the development of new treatments for osteoporosis. ..
- Early-onset retinal degenerationsSamuel Jacobson; Fiscal Year: 2005....
- PATHOGENESIS OF RETINAL DEGENERATIONSSamuel 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. ..
- Low Magnitude Mechanical Stimulation to Improve BMDDouglas 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. ..