RS1

Summary

Gene Symbol: RS1
Description: retinoschisin 1
Alias: XLRS1, retinoschisin, X-linked juvenile retinoschisis protein
Species: human

Top Publications

  1. ncbi Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis
    Winco W H Wu
    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada
    J Biol Chem 278:28139-46. 2003
  2. ncbi Positional cloning of the gene associated with X-linked juvenile retinoschisis
    C G Sauer
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Nat Genet 17:164-70. 1997
  3. ncbi Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Hum Mutat 13:338. 1999
  4. ncbi Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis
    A Gehrig
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    Clin Genet 55:461-5. 1999
  5. ncbi Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
    K T Hiriyanna
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA
    Hum Mutat 14:423-7. 1999
  6. ncbi Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    C Grayson
    Department of Medical Genetics, The Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Hum Mol Genet 9:1873-9. 2000
  7. pmc Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    Bernhard H F Weber
    Institute of Human Genetics, Biocenter, University of Wurzburg, D 97074 Wurzburg, Germany
    Proc Natl Acad Sci U S A 99:6222-7. 2002
  8. ncbi Two Japanese patients with mutations in the XLRS1 gene
    Demidmaa Tuvdendorj
    Department of Ophthalmology, Kagoshima University Faculty of Medicine, Kagoshima, Japan
    Retina 22:354-7. 2002
  9. ncbi Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis
    Yumiko Inoue
    Department of Ophthalmology and Visual Science, Osaka University Graduate School of Medicine, Japan
    Am J Ophthalmol 134:622-4. 2002
  10. ncbi Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
    Tao Wang
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY, UK
    Hum Mol Genet 11:3097-105. 2002

Research Grants

  1. GLADYS Y KO; Fiscal Year: 2014
  2. Genetic Modifier of the Retinoschisis Gene
    Akihiro Ikeda; Fiscal Year: 2010
  3. Circadian Rhythm in Cone Photoreceptors: Cellular Mechanisms
    GLADYS Y KO; Fiscal Year: 2012
  4. Regulation of Bone Formation by G-protein Signaling
    Edward C Hsiao; Fiscal Year: 2013
  5. MOLECULAR BIOLOGY AND VIRULENCE OF CTX PHAGE
    Matthew Waldor; Fiscal Year: 2007
  6. DEVELOPMENTAL BIOLOGY AND GENETICS OF THE MAIZE LEAF
    Michael Freeling; Fiscal Year: 2001
  7. COLLABORATIVE R01--ROLES OF G PROTEINS IN CARDIOMYOPATHY
    Bruce Conklin; Fiscal Year: 2002
  8. GenMAPP: A tool for pathway analysis of genomic data
    Bruce Conklin; Fiscal Year: 2006
  9. GenMAPP-CS, a dynamic resource pathway analysis
    Bruce R Conklin; Fiscal Year: 2010
  10. Genomic Sequence of an Otitis Media Isolate of NTHi
    Robert Munson; Fiscal Year: 2003

Detail Information

Publications175 found, 100 shown here

  1. ncbi Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis
    Winco W H Wu
    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada
    J Biol Chem 278:28139-46. 2003
    b>Retinoschisin is a 24-kDa discoidin domain-containing protein that is secreted from photoreceptor and bipolar cells as a large disulfide-linked multisubunit complex...
  2. ncbi Positional cloning of the gene associated with X-linked juvenile retinoschisis
    C G Sauer
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Nat Genet 17:164-70. 1997
    ..Mapping and expression analysis of expressed sequence tags have identified a novel transcript, designated XLRS1, within the centromeric RS locus that is exclusively expressed in retina...
  3. ncbi Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Hum Mutat 13:338. 1999
    The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina...
  4. ncbi Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis
    A Gehrig
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    Clin Genet 55:461-5. 1999
    The RS1 gene is the causative gene in X-linked juvenile retinoschisis (RS). We have screened this gene for mutations in 13 patients with RS and in 7 probands with senile retinoschisis, a sporadic, later-onset form of retinoschisis...
  5. ncbi Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
    K T Hiriyanna
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA
    Hum Mutat 14:423-7. 1999
    Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene...
  6. ncbi Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    C Grayson
    Department of Medical Genetics, The Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Hum Mol Genet 9:1873-9. 2000
    ..RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function...
  7. pmc Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    Bernhard H F Weber
    Institute of Human Genetics, Biocenter, University of Wurzburg, D 97074 Wurzburg, Germany
    Proc Natl Acad Sci U S A 99:6222-7. 2002
    Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males...
  8. ncbi Two Japanese patients with mutations in the XLRS1 gene
    Demidmaa Tuvdendorj
    Department of Ophthalmology, Kagoshima University Faculty of Medicine, Kagoshima, Japan
    Retina 22:354-7. 2002
  9. ncbi Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis
    Yumiko Inoue
    Department of Ophthalmology and Visual Science, Osaka University Graduate School of Medicine, Japan
    Am J Ophthalmol 134:622-4. 2002
    To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis.
  10. ncbi Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
    Tao Wang
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY, UK
    Hum Mol Genet 11:3097-105. 2002
    ..Many missense and protein truncating mutations of the causative gene RS1 (encoding retinoschisin) have been identified but disease severity is not mutation-dependent...
  11. ncbi Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis
    Kei Shinoda
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku 160 8582, Tokyo, Japan
    Graefes Arch Clin Exp Ophthalmol 242:561-5. 2004
    ..To present the clinical features of two brothers with molecularly confirmed X-linked juvenile retinoschisis (xlRS) but with non-characteristic electrophysiological findings...
  12. ncbi Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations
    Wai Man Chan
    Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong, China
    Clin Exp Ophthalmol 32:429-32. 2004
    The optical coherence tomography (OCT) findings, clinical features, and mutations in the RS1 gene of two unrelated patients with X-linked retinoschisis (XLRS) are reported herein...
  13. ncbi Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene
    Takaaki Hayashi
    Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 138:788-98. 2004
    To describe the clinical phenotypes of four unrelated Japanese male patients with juvenile retinoschisis and to investigate occurrences of mutations in the RS1 gene.
  14. ncbi RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer
    Winco W H Wu
    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada
    J Biol Chem 280:10721-30. 2005
    RS1, also known as retinoschisin, is an extracellular protein that plays a crucial role in the cellular organization of the retina...
  15. pmc A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis
    Hyoung Jun Koh
    Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea
    Korean J Ophthalmol 20:62-4. 2006
    To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
  16. ncbi Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout
    Yuichiro Takada
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 12:1108-16. 2006
    ..Recent expressed tag sequence (EST) analysis showed that several gene mutations, including RS1, which cause retinal degeneration, are also expressed in the pineal gland...
  17. pmc X-linked retinoschisis: an update
    Stephen K Sikkink
    Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester, UK
    J Med Genet 44:225-32. 2007
    ..identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secretory retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in cell-cell interactions and cell adhesion perhaps by interacting ..
  18. ncbi A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis
    Zi Bing Jin
    Jpn J Ophthalmol 51:71-3. 2007
  19. pmc Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis
    Balasubbu Suganthalakshmi
    Department of Genetics, Aravind Medical Research Foundation, Madurai, India
    Mol Vis 13:611-7. 2007
    ..This condition is caused by mutations in the RS1 gene and is, characterized by schisis within the retina...
  20. ncbi Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation
    Dhananjay Shukla
    Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
    Am J Ophthalmol 144:419-423. 2007
    ..To describe the unusual clinical manifestations and diagnostic evaluation of X-linked retinoschisis (XLR)...
  21. ncbi Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex
    Laurie L Molday
    Department of Biochemistry and Molecular Biology, Centre for Macular Research, University of British Columbia, Vancouver, British Columbia, Canada
    J Biol Chem 282:32792-801. 2007
    b>Retinoschisin or RS1 is a discoidin domain-containing protein encoded by the gene responsible for X-linked retinoschisis (XLRS), an early onset macular degeneration characterized by a splitting of the retina...
  22. ncbi ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT
    Agnes B Renner
    Augenklinik, Charite Campus Benjamin Franklin, Universitatsmedizin Berlin, Hindenburgdamm 30, 12200 Berlin, Germany
    Doc Ophthalmol 116:97-109. 2008
    X-linked congenital retinoschisis (RS) is a relatively frequent retinal dystrophy associated with RS1 gene mutations. A negative electroretinogram (ERG), i.e., a b/a wave ratio <1...
  23. doi Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families
    Xiang Ma
    Eye Center of Peking University, People s Hospital, Peking University, Beijing, People s Republic of China
    Jpn J Ophthalmol 52:48-51. 2008
    To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS).
  24. pmc Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene
    Balázs Lesch
    Department of Ophthalmology, Semmelweis University, Budapest, Hungary
    Mol Vis 14:1549-58. 2008
    ..of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS.
  25. pmc Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin
    Saloni Walia
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
    Am J Ophthalmol 147:111-115.e1. 2009
    ..if a positive response of macular cysts to treatment with dorzolamide eye drops in patients with juvenile X-linked retinoschisis (XLRS) can occur with mutations that result in different types of retinoschisin protein dysfunction.
  26. pmc Genetic and clinical evaluation of juvenile retinoschisis
    Judy E Kim
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    J AAPOS 13:215-7. 2009
    Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations...
  27. doi Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene
    Fei Xu
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Shuai Fu Yuan, Beijing, China
    Doc Ophthalmol 123:21-7. 2011
    ..Genomic DNA was extracted from peripheral leukocytes. All exons and the flanking introns of the RS1 gene were amplified by polymerase chain reaction and screened for mutations by direct DNA sequencing...
  28. pmc Novel RS1 mutations associated with X-linked juvenile retinoschisis
    Junhui Yi
    Department of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha 410013, PR China
    Int J Mol Med 29:644-8. 2012
    To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study...
  29. doi A phenotype-genotype correlation study of X-linked retinoschisis
    Ajoy Vincent
    Moorfields Eye Hospital, City Road, London, United Kingdom
    Ophthalmology 120:1454-64. 2013
    ..To compare the clinical phenotype and detailed electroretinographic parameters in X-linked retinoschisis (XLRS)...
  30. ncbi Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene
    Y Hotta
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Hum Genet 103:142-4. 1998
    We investigated the XLRS1 gene in Japanese patients with retinoschisis (RS)...
  31. ncbi Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland
    L Huopaniemi
    Department of Medical Genetics, University of Helsinki, Finland
    Eur J Hum Genet 7:368-76. 1999
    ..The gene defective in retinoschisis, XLRS1, has recently been identified and characterised...
  32. ncbi Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome
    Masaki Sato
    Department of Ophthalmology, University Hospital of Tsukuba, University of Tsukuba, Tsukuba, Ibaraki Ken, Japan
    Ophthalmic Res 35:295-300. 2003
    We examined the XLRS1 gene for mutations in 6 Japanese patients with X-linked juvenile retinoschisis from a total of three families (5 males and 1 female), and from 3 obligate carrier females...
  33. pmc Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene
    Xiaoxin Li
    Department of Ophthalmology, People s Hospital, Peking University, Beijing, PR China
    Mol Vis 13:804-12. 2007
    To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene.
  34. ncbi Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis
    Meizhen Zeng
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Curr Eye Res 32:685-91. 2007
    ..In this study we analyzed all six exons of the XLRS1 gene in four sporadic XLRS patients and in an affected family in China who were recently diagnosed...
  35. doi Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis
    Rosa Riveiro-Alvarez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 50:4342-50. 2009
    ..This study was conducted to describe and further correlate specific genetic variation in Spanish patients with XLRS with clinical characteristics and additional ophthalmic complications...
  36. pmc Molecular genetic characteristics of X-linked retinoschisis in Koreans
    So Yeon Kim
    Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea
    Mol Vis 15:833-43. 2009
    ..Many genetic studies had focused on the patients in Western countries. We characterized the mutational spectrum of the RS1 gene in Korean patients with XLRS, and aimed to provide genetic information of XLRS in an Asian population.
  37. pmc Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis
    B Lesch
    Department of Ophthalmology, Semmelweis University, Budapest, Hungary
    Mol Vis 14:2321-32. 2008
    To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease.
  38. ncbi Evidence for a new locus for X-linked retinitis pigmentosa (RP23)
    A J Hardcastle
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, United Kingdom
    Invest Ophthalmol Vis Sci 41:2080-6. 2000
    ..To investigate the level of heterogeneity for XLRP in the patient pool in the current study, extensive haplotype analysis, linkage analysis, and mutation screening were performed...
  39. pmc Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study
    Svetlana Kotova
    LBPS, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, Maryland 20892, USA
    Biochemistry 49:7023-32. 2010
    b>Retinoschisin (RS1) is a retina-specific secreted protein encoding a conserved discoidin domain sequence. As an adhesion molecule, RS1 preserves the retinal cell architecture and promotes visual signal transduction...
  40. pmc Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery
    Yuichiro Takada
    Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA
    Invest Ophthalmol Vis Sci 49:3677-86. 2008
    At an early age, the retinoschisin knockout (Rs1-KO) mouse retina has progressive photoreceptor degeneration with severe disruption of the outer plexiform layer (OPL) that decreases at older ages...
  41. ncbi [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...
  42. ncbi Preimplantation genetic diagnosis of X-linked retinoschisis
    Belén Lledó
    Department of Molecular Biology, Infertility Centre, Instituto Bernabeu, Alicante 03016, Spain
    Reprod Biomed Online 16:886-92. 2008
    ..using multiple displacement amplification (MDA) for whole genome amplification and linked markers to the RS1 gene. The study evaluates the ability of MDA to amplify the whole genome directly from a single blastomere...
  43. ncbi X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation
    Francisco J Rodriguez
    Fundacion Oftalmologica Nacional, Facultad de Medicina, Universidad del Rosario, Bogota, Colombia
    Retina 25:69-74. 2005
    ..To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family with 26 affected males...
  44. ncbi Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene
    Britt A Johnson
    Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
    Vis Neurosci 23:887-98. 2006
    X-linked retinoschisis (XLRS) is a common form of inherited macular degeneration caused by mutations in the RS1 gene...
  45. ncbi Retinoschisin forms a multi-molecular complex with extracellular matrix and cytoplasmic proteins: interactions with beta2 laminin and alphaB-crystallin
    Marie France Steiner-Champliaud
    Laboratoire de Physiopathologie Cellulaire et Moleculaire de la Retine, INSERM U 592, Hopital St Antoine, Paris, France
    Mol Vis 12:892-901. 2006
    ..The affected gene normally codes for retinoschisin (Rs1), a secreted protein containing a large discoidin homology domain...
  46. ncbi The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors
    S N Reid
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Gene 227:257-66. 1999
    ..and amino acid sequences, as well as chromosome mapping, we determined that this gene is the mouse ortholog (Xlrs1) of the human X-linked juvenile retinoschisis gene (XLRS1)...
  47. ncbi Molecular genetics of macular degeneration
    M A Musarella
    Long Island College Hospital, Department of Ophthalmology, Brooklyn, NY 11231, USA
    Doc Ophthalmol 102:165-77. 2001
    ..The gene mutant in X-linked juvenile retinoschisis, XLRS1, is the first macular dystrophy gene to be isolated by positional cloning...
  48. ncbi Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
    L C Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Arch Ophthalmol 118:1098-104. 2000
    To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations in the XLRS1 gene.
  49. ncbi Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Ophthalmic Genet 21:171-80. 2000
    To characterize the clinical features associated with XLRS1 gene mutations in Japanese patients with X-linked juvenile retinoschisis (xlRS), we evaluated the following data on 14 Japanese males from 13 unrelated families with XLRS1 ..
  50. pmc Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose
    Frank M Dyka
    Department of Biochemistry and Molecular Biology, Centre for Macular Research, University of British Columbia, 2350 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada
    Biochemistry 47:9098-106. 2008
    RS1, also known as retinoschisin, is an extracellular discoidin domain-containing protein that has been implicated in maintaining the cellular organization and synaptic structure of the vertebrate retina...
  51. pmc CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene
    Thomas Langmann
    Institute of Human Genetics, University of Regensburg, Regensburg, Germany
    Nucleic Acids Res 36:6523-34. 2008
    X-linked juvenile retinoschisis is a heritable condition of the retina in males caused by mutations in the RS1 gene. Still, the cellular function and retina-specific expression of RS1 are poorly understood...
  52. ncbi Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene
    A E Gehrig
    Institut fur Humangenetik, Biozentrum, Am Hubland, Universitat Wurzburg, 97074 Wurzburg, Germany
    Mamm Genome 10:303-7. 1999
    X-linked juvenile retinoschisis (RS) is a vitreoretinal degeneration affecting only males. Recently, the RS1 gene underlying this common cause of early vision loss was identified and shown to encode a 224-amino acid precursor protein ..
  53. ncbi Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis
    C Teixeira
    Department of Ophthalmology, Hospital de S João Hospital, Porto, Portugal
    Eur J Ophthalmol 15:638-40. 2005
    To characterize electroretinogram (ERG) and molecular genetic findings in a family with XLRS1 mutation. The authors present two cases of a Portuguese family with juvenile retinoschisis with a mutation in exon 6.
  54. ncbi Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease
    Louise Eksandh
    Department of Ophthalmology, University Hospital of Lund, Sweden
    Ophthalmic Genet 26:111-7. 2005
    To report four cases of genetically verified juvenile X-linked retinoschisis (XLRS) with normal scotopic b-waves in full-field ERG, including one patient with a novel mutation (W50X) in the RS1 gene.
  55. pmc Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis
    Britt A Johnson
    Department of Medical Genetics, University of Wisconsin, Madison, Wisconsin 53706, USA
    Genetics 178:1785-94. 2008
    X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that is caused by mutations in the retinoschisin (RS1) gene...
  56. pmc The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis
    Gabriel Luna
    Neuroscience Research Institute, University of California Santa Barbara, Santa Barbara, CA 93106 5060, USA
    Invest Ophthalmol Vis Sci 50:3977-84. 2009
    To determine the cellular consequences of retinal detachment in retinoschisin knockout (Rs1-KO) mice, a model for retinoschisin in humans.
  57. pmc Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse
    T K Park
    Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
    Gene Ther 16:916-26. 2009
    X-linked juvenile retinoschisis (XLRS) is a neurodevelopmental abnormality caused by retinoschisin gene mutations...
  58. pmc Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease
    Camasamudram Vijayasarathy
    Section on Translational Research for Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 31:1251-60. 2010
    b>Retinoschisin (RS1) is a cell-surface adhesion molecule expressed by photoreceptor and bipolar cells of the retina...
  59. ncbi On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Am J Ophthalmol 131:489-94. 2001
    ..To examine the physiologic condition of the middle retinal layer of patients with X-linked juvenile retinoschisis (xlRS) by studying the on- and off-responses of the photopic electroretinograms (ERGs)...
  60. ncbi Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis
    Seok H Min
    Department of Ophthalmology, University of Florida College of Medicine, Gainesville, 32610, USA
    Mol Ther 12:644-51. 2005
    ..mouse model of human RS, delivery of the human RS1 cDNA with an AAV vector restored expression of retinoschisin to both photoreceptors and the inner retina essentially identical to that seen in wild-type mice...
  61. pmc Tyrosinase is the modifier of retinoschisis in mice
    Britt A Johnson
    Department of Medical Genetics, University of Wisconsin, Madison, WI 53706, USA
    Genetics 186:1337-44. 2010
    ..This disease is caused by mutations in the retinoschisin (RS1) gene...
  62. ncbi Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Ophthalmic Genet 20:57-61. 1999
    ..This patient with a severe form of retinoschisis was found to harbor the deletion of 33 base pairs, including the boundary region of exon 3 and intron 3 in the XLRS1 gene.
  63. pmc Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update
    Anthony G Robson
    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London EC1 2PD, UK
    Doc Ophthalmol 116:79-89. 2008
    ..To examine the presence and functional significance of annular fundus autofluorescence abnormalities in patients with different retinal dystrophies...
  64. doi Genotypic analysis of X-linked retinoschisis in Western Australia
    Tina Lamey
    Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA 6009, Australia
    Adv Exp Med Biol 664:283-91. 2010
    ..By direct sequencing of the RS1 gene, three genetic variants were identified; 52+1G > T, 289T > G and 416delA...
  65. pmc RS1 element of Vibrio cholerae can propagate horizontally as a filamentous phage exploiting the morphogenesis genes of CTXphi
    Shah M Faruque
    Molecular Genetics Laboratory, International Centre for Diarrhoeal Disease Research, Bangladesh, Dhaka 1212, Bangladesh
    Infect Immun 70:163-70. 2002
    ..Integrated CTXPhi is often flanked by another genetic element known as RS1 which carries all open reading frames (ORFs) found in RS2 and an additional ORF designated rstC...
  66. pmc Evolutionary genetic analysis of the emergence of epidemic Vibrio cholerae isolates on the basis of comparative nucleotide sequence analysis and multilocus virulence gene profiles
    Yvonne A O'Shea
    Department of Microbiology, University College Cork, National University of Ireland, Cork, Ireland
    J Clin Microbiol 42:4657-71. 2004
    ..Of the 12 virulence regions examined, only three regions, Vibrio seventh pandemic island 1 (VSP-I), VSP-II, and RS1, were absent from all classical V. cholerae isolates. Most V...
  67. pmc Genomic analysis of the Mozambique strain of Vibrio cholerae O1 reveals the origin of El Tor strains carrying classical CTX prophage
    Shah M Faruque
    Molecular Genetics Laboratory, International Centre for Diarrhoeal Disease Research, Bangladesh, Dhaka 1212, Bangladesh
    Proc Natl Acad Sci U S A 104:5151-6. 2007
    ..strain shares most of its genes with the typical El Tor strain N16961 but did not carry the TLC gene cluster, and RS1 sequence, adjacent to the CTX prophage...
  68. ncbi Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy
    Hyun Jeong Oh
    Department of Biomedical Sciences, National Institute of Health, Seoul 122 701, Republic of Korea
    Mol Genet Metab 86:S124-32. 2005
    ..an immunoglobulin alpha heavy chain constant region gene (Igh-2), an osteocalcin-related protein precursor (Bglap-rs1), and a membrane-spanning 4 domain, subfamily A, member 3 (Ms4a3)...
  69. pmc AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance
    Rachel Bachner-Melman
    Department of Psychology, Mount Scopus, Hebrew University, Jerusalem, Israel
    PLoS Genet 1:e42. 2005
    ..region HTTLPR and intron 2 VNTR) and the arginine vasopressin receptor 1a (AVPR1a: promoter microsatellites RS1 and RS3)...
  70. ncbi Individual differences in allocation of funds in the dictator game associated with length of the arginine vasopressin 1a receptor RS3 promoter region and correlation between RS3 length and hippocampal mRNA
    A Knafo
    Psychology Department, Hebrew University, Jerusalem, Israel
    Genes Brain Behav 7:266-75. 2008
    ..All subjects and their parents were genotyped for AVPR1a RS1 and RS3 promoter-region repeat polymorphisms. Parents did not participate in online game playing...
  71. ncbi The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping
    S Yamanaka
    Section on Biochemical Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892
    Genomics 24:601-4. 1994
    ..The Gm2a gene was mapped to a region on mouse chromosome (Chr) 11 that is homologous with a segment of human chromosome 5 containing the orthologous human gene. In addition, a Gm2a-related sequence (Gm2a-rs1) was mapped to mouse Chr 5.
  72. doi Pseudomonas oleovorans subsp. lubricantis subsp. nov., and reclassification of Pseudomonas pseudoalcaligenes ATCC 17440T as later synonym of Pseudomonas oleovorans ATCC 8062 T
    Ratul Saha
    Biological Sciences, Michigan Technological University, Houghton, MI, USA
    Curr Microbiol 60:294-300. 2010
    Isolate RS1(T) isolated from used metalworking fluid was found to be a Gram-negative, motile, and non-spore forming rod. Based on phylogenetic analyses with 16S rRNA, isolate RS1(T) was placed into the mendocina sublineage of Pseudomonas...
  73. ncbi Induction of effective immunity to Moloney murine sarcoma virus using monoclonal anti-idiotypic antibody as immunogen
    T J Powell
    Birmingham Veterans Administration Medical Center, Department of Surgery, AL
    J Immunol 142:1318-24. 1989
    We have isolated an anti-idiotypic mAb (RS1.1.3), which recognizes an idiotope present on several IgM mAb specific for Moloney murine leukemia virus (M-MuLV)-determined cell surface Ag. The binding of RS1.1...
  74. pmc Metabolic roles of a Rhodobacter sphaeroides member of the sigma32 family
    R K Karls
    Department of Bacteriology, University of Wisconsin Madison, 53706, USA
    J Bacteriol 180:10-9. 1998
    ..sphaeroides deltaRpoH mutant is not generally defective in phage morphogenesis, since it plates the lytic virus RS1, as well as its wild-type parent. In characterizing the response of R...
  75. pmc Genetic variation in S-nitrosoglutathione reductase (GSNOR) and childhood asthma
    Hao Wu
    Laboratory of Respiratory Biology, Division of Intramural Research, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, NC 27709, USA
    J Allergy Clin Immunol 120:322-8. 2007
    ..GSNOR knockout mice have increased lung S-nitrosothiol levels and are therefore protected from airway hyperresponsiveness after methacholine or allergen challenge...
  76. doi Vibrio cholerae O1 clinical strains isolated in 1992 in Kolkata with progenitor traits of the 2004 Mozambique variant
    Souvik Chatterjee
    National Institute of Cholera and Enteric Diseases, Kolkata, India
    J Med Microbiol 58:239-47. 2009
    ..With the features of classical CTX prophage, localization in the small chromosome, and an absence of RS1 and pTLC, both Mozambique and Kolkata strains appeared to be identical...
  77. doi Roles of COMM-domain-containing 1 in stability and recruitment of the copper-transporting ATPase in a mouse hepatoma cell line
    Takamitsu Miyayama
    Laboratory of Chemical Toxicology and Environmental Health, Showa Pharmaceutical University, Machida, Tokyo 194 8543, Japan
    Biochem J 429:53-61. 2010
    A novel function of COMMD1 {COMM [copper metabolism MURR1 (mouse U2af1-rs1 region 1)]-domain-containing 1}, a protein relevant to canine copper toxicosis, was examined in the mouse hepatoma cell line Hepa 1-6 with multi-disciplinary ..
  78. doi Classical RS1 and environmental RS1 elements in Vibrio cholerae O1 El Tor strains harbouring a tandem repeat of CTX prophage: revisiting Mozambique in 2005
    Seon Young Choi
    International Vaccine Institute, Seoul, Republic of Korea
    J Med Microbiol 59:302-8. 2010
    ..New type RS1 elements RS1(cla) and RS1(env), and a CTX(env) with rstR(env) and the classical ctxB were identified on the large ..
  79. ncbi RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1
    Maike Veyhl
    Institut für Anatomie und Zellbiologie der Universität Würzburg, Koellikerstr 6, 97070 Wurzburg, Germany
    Am J Physiol Renal Physiol 291:F1213-23. 2006
    The product of gene RSC1A1, named RS1, participates in transcriptional and posttranscriptional regulation of the sodium-d-glucose cotransporter SGLT1...
  80. ncbi Recognition Preference of Rhodamine-Thiospirolactams for Mercury(II) in Aqueous Solution
    Wei Huang
    Coordination Chemistry Institute, State Key Laboratory of Coordination Chemistry, Nanjing University, Nanjing 210093, P R China
    Inorg Chem 48:5061-72. 2009
    ..the design, syntheses, photophysical properties and Hg(2+)-binding of the red-emitting rhodamine derivatives RS1, RS2, and RS3 with different coordination ability and different spatial effects that derived from rhodamine ..
  81. ncbi Cloning of a membrane-associated protein which modifies activity and properties of the Na(+)-D-glucose cotransporter
    M Veyhl
    Max Planck Institut fur Biophysik, Frankfurt am Main, Germany
    J Biol Chem 268:25041-53. 1993
    ..A., Coady, M.J., Ikeda, T.S., and Wright, E.M. (1987) Nature 330, 379-381). A cDNA (RS1) was obtained which codes for a hydrophilic M(r) 66,832 polypeptide and contains a predicted hydrophobic alpha-..
  82. ncbi The shuffling function of resolvases
    G Kholodii
    Institute of Molecular Genetics, Russian Academy of Sciences, 123182, Moscow, Russia
    Gene 269:121-30. 2001
    ..the res site of RP4 located in the par locus, the res site of transposon gammadelta or Tn1721, the incomplete site RS1 consisting only of the (crossover) subsite resI also found in pKLH2/204/205 and others were used...
  83. ncbi The defensin-related murine CRS1C gene: expression in Paneth cells and linkage to Defcr, the cryptdin locus
    M Y Lin
    Cell Biology Unit, Shriners Burns Institute, Massachusetts General Hospital, Boston
    Genomics 14:363-8. 1992
    ..defensin-related CRS1C gene expression in mouse small bowel and the chromosomal location of the CRS1C locus, Defcr-rs1, have been determined...
  84. ncbi Altered imprinted gene methylation and expression in completely ES cell-derived mouse fetuses: association with aberrant phenotypes
    W Dean
    Laboratory of Developmental Genetics Programme, The Babraham Institute, Babraham Hall, Cambridge CB2 4AT, UK
    Development 125:2273-82. 1998
    ..genes, we analysed two maternally expressed genes (Igf2r, H19) and two paternally expressed genes (Igf2, U2af1-rs1) in ES cells and in completely ES cell-derived fetuses...
  85. ncbi Repeat linear accelerator radiosurgery for cerebral arteriovenous malformations
    Michel Schlienger
    Department of Radiotherapy, Radiophysics Tenon Hospital, Paris, France
    Int J Radiat Oncol Biol Phys 56:529-36. 2003
    To evaluate repeat radiosurgery (RS2) for cerebral arteriovenous malformations (AVMs) after failure of initial radiosurgery (RS1).
  86. ncbi Regulation and a conserved intron sequence of liguleless3/4 knox class-I homeobox genes in grasses
    Petra Bauer
    Department of Plant and Microbial Biology, UC Berkeley, 111 Koshland Hall, Berkeley, CA 94720 3102, USA
    Planta 219:359-68. 2004
    ..knotted1 (kn1) seems to function in shoot apical meristem maintenance, and rough sheath1 (rs1)-like genes may act in internode elongation. The function of liguleless3 (lg3)-type genes is still unknown...
  87. ncbi Pas1c1 is a candidate for the mouse pulmonary adenoma susceptibility 1 locus
    Min Wang
    Department of Surgery and The Alvin J Siteman Cancer Center, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8109, St Louis, MO 63110, USA
    Oncogene 24:1958-63. 2005
    Pas1 candidate 1 (Pas1c1) gene (also named Lmna-rs1) was found to encode two alternatively spliced mRNA transcripts (i.e. Pas1c1-Va and Pas1c1-Vb)...
  88. ncbi Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills
    N Yirmiya
    Department of Psychology, Hebrew University, Jerusalem, Israel
    Mol Psychiatry 11:488-94. 2006
    We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland ..
  89. ncbi Transporter regulator RS1 (RSC1A1) coats the trans-Golgi network and migrates into the nucleus
    Matthias Kroiss
    Institut für Anatomie und Zellbiologie der Universität Würzburg, Koellikerstr 6 97070 Würzburg, Germany
    Am J Physiol Renal Physiol 291:F1201-12. 2006
    The product of gene RSC1A1, named RS1, is involved in transcriptional and posttranscriptional regulation of sodium-d-glucose cotransporter SGLT1, and removal of RS1 in mice led to an increase of SGLT1 expression in small intestine and to ..
  90. ncbi An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation
    Alessandro Iannaccone
    Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA
    Vision Res 46:3845-52. 2006
    ..Although in vitro studies showed that the W112C mutant retinoschisin is present only in the cellular fraction and is not secreted, disease expression was remarkably mild, ..
  91. ncbi Screen for new mutations on the 2nd chromosome involved in indirect flight muscle development in Drosophila melanogaster
    Sajesh Babu
    National Drosophila Stock Centre, Department of Studies in Zoology, University of Mysore, Manasagangothri, Mysore 570 006, India
    Genome 50:343-50. 2007
    ..we found 6 new complementation groups with strong defects in adult-muscle morphology; we named these ifm(2)RS1 to ifm(2)RS6...
  92. doi Nod factor/nitrate-induced CLE genes that drive HAR1-mediated systemic regulation of nodulation
    Satoru Okamoto
    Department of Biological Sciences, Graduate School of Science, University of Tokyo, Bunkyo, Tokyo, Japan
    Plant Cell Physiol 50:67-77. 2009
    ..Here we identify L. japonicus CLE-Root Signal 1 (LjCLE-RS1) and LjCLE-RS2 as strong candidates for the root-derived signal...
  93. pmc Long-term 12 year follow-up of X-linked congenital retinoschisis
    Sten Kjellstrom
    Department of Ophthalmology, Lund University, Lund, Sweden
    Ophthalmic Genet 31:114-25. 2010
    ..To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood...
  94. pmc Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene
    Jacque L Duncan
    Department of Ophthalmology, University of California at San Francisco, San Francisco, California 94143, USA
    Invest Ophthalmol Vis Sci 52:9614-23. 2011
    To evaluate macular cone structure in patients with X-linked retinoschisis (XLRS) caused by mutations in exon 6 of the RS1 gene.
  95. doi The neurogenetics of nice: receptor genes for oxytocin and vasopressin interact with threat to predict prosocial behavior
    Michael J Poulin
    Department of Psychology, University at Buffalo, NY 14260, USA
    Psychol Sci 23:446-52. 2012
    ..examined oxytocin receptor (OXTR) polymorphism rs53576, as well as vasopressin receptor 1a (AVPR1a) polymorphisms rs1 and rs3 in a national sample of U.S. residents (n = 348)...
  96. doi Repetitive sequences in Eurasian lynx (Lynx lynx L.) mitochondrial DNA control region
    Magda Sindicic
    Faculty of Veterinary Medicine, University of Zagreb, Zagreb, Croatia
    Mitochondrial DNA 23:201-7. 2012
    ..DNA (mtDNA) control region (CR) of numerous species is known to include up to five different repetitive sequences (RS1-RS5) that are found at various locations, involving motifs of different length and extensive length heteroplasmy...
  97. pmc Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
    Anna Skorczyk
    Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
    Mol Vis 18:3004-12. 2012
    To determine the clinical features and to identify mutations in the retinoschisis gene (RS1) in ten patients with X-linked retinoschisis (XLRS).
  98. doi A novel gene mutation in a family with X-linked retinoschisis
    Yu Hung Lai
    Department of Ophthalmology, Kaohsiung Medical University, Kaohsiung, Taiwan Department of Ophthalmology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    J Formos Med Assoc 114:872-80. 2015
    To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.
  99. doi Biodegradation of pyrene by a Pseudomonas aeruginosa strain RS1 isolated from refinery sludge
    Indrani Ghosh
    Centre for Environmental Science and Engineering CESE, Indian Institute of Technology, Bombay, Powai, Mumbai 400076, India
    Bioresour Technol 166:548-58. 2014
    ..The degradation pathway appears to be similar to that reported for Mycobacterium sp. PYR-I...
  100. doi Common variants in PCSK1 influence blood pressure and body mass index
    Q Gu
    1 Erasmus Medical Center, Department of Internal Medicine, University Medical Center Rotterdam, Rotterdam, The Netherlands 2 Department of Endocrinology, Zhongshan Hospital Fudan University, Shanghai, China
    J Hum Hypertens 29:82-6. 2015
    ..Additionally, we investigated the risk of obesity and type 2 diabetes (T2D). In the Rotterdam Study (RS1), a prospective, population-based cohort (n=5974), four single-nucleotide polymorphisms (rs10515237, rs6232, ..

Research Grants14

  1. GLADYS Y KO; Fiscal Year: 2014
    ..The phenotypes of XLRS are caused by mutations of RS1, the gene encoding retinoschisin, an extracellular octameric protein that participates in retinal cell organization an adhesion...
  2. Genetic Modifier of the Retinoschisis Gene
    Akihiro Ikeda; Fiscal Year: 2010
    ..X-linked retinoschisis (XLRS) is a common inherited macular degenerative disease caused by mutations in the RS1 gene...
  3. Circadian Rhythm in Cone Photoreceptors: Cellular Mechanisms
    GLADYS Y KO; Fiscal Year: 2012
    ..Aim 3. Determine how the dynamic trio - L-VGCC, retinoschisin (rs1), and plasma membrane Ca2+-ATPase (PMCA1) - promote membrane retention of L-VGCCs and Ca2+ homeostasis...
  4. Regulation of Bone Formation by G-protein Signaling
    Edward C Hsiao; Fiscal Year: 2013
    ..showed that expression in osteoblasts of an engineered receptor activated solely by synthetic ligand (RASSL), "Rs1," could dramatically increases bone mass in Rs1 transgenic mice...
  5. MOLECULAR BIOLOGY AND VIRULENCE OF CTX PHAGE
    Matthew Waldor; Fiscal Year: 2007
    ..form of CTXphi is found as part of tandem arrays of prophage DNA interspersed with the related genetic element RS1. RS1 encodes a protein, RstC, that can counter RstR repression and lead to markedly enhanced expression of CTX ..
  6. DEVELOPMENTAL BIOLOGY AND GENETICS OF THE MAIZE LEAF
    Michael Freeling; Fiscal Year: 2001
    ..Rice will be used as a control genome. Aim number 2. We will determine if RS2 directly binds the rs1 gene. We will use a yeast one-hybrid screen and protein-DNA slot-blots...
  7. COLLABORATIVE R01--ROLES OF G PROTEINS IN CARDIOMYOPATHY
    Bruce Conklin; Fiscal Year: 2002
    ..3. To selectively activate G protein pathways in the setting of two experimentally induced cardiomyopathy models where G protein signaling has been shown to be altered. (End of Abstract) ..
  8. GenMAPP: A tool for pathway analysis of genomic data
    Bruce Conklin; Fiscal Year: 2006
    ..With the completion these aims, GenMAPP 3.0 will provide a program that is robust, simple to use, and available without charge to the entire biological community. [unreadable] [unreadable]..
  9. GenMAPP-CS, a dynamic resource pathway analysis
    Bruce R Conklin; Fiscal Year: 2010
    ..The challenge of analyzing these massive and complex datasets is a major force driving the development of GenMAPP-CS. ..
  10. Genomic Sequence of an Otitis Media Isolate of NTHi
    Robert Munson; Fiscal Year: 2003
    ..We propose to close and annotate the genome of nontypeable H. influenzae strain 86-028. ..
  11. OCULAR MELANOMA
    Judy Kim; Fiscal Year: 2003
    ..Standardized clinical and data collection procedures will be employed, and standardized forms will be used in all centers. Central training and certification of all study staff will be required. ..
  12. Pasteurellaceae 2005
    Robert Munson; Fiscal Year: 2005
    ..These 2 activities will assure that all of our conference goals are met. ..
  13. Protein Glycosylatin in Haemophilus ducreyi
    Robert Munson; Fiscal Year: 2007
    ..ducreyi infection. [unreadable] [unreadable] [unreadable]..