NYX

Summary

Gene Symbol: NYX
Description: nyctalopin
Alias: CLRP, CSNB1, CSNB1A, CSNB4, NBM1, nyctalopin, leucine-rich repeat protein
Species: human

Top Publications

  1. ncbi Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Nat Genet 26:319-23. 2000
  2. ncbi The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    C M Pusch
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Nat Genet 26:324-7. 2000
  3. ncbi Identification of the gene and the mutation responsible for the mouse nob phenotype
    Ronald G Gregg
    Department of Biochemistry and Molecular Biology, University of Louisville, 319 Abraham Flexner Way, Louisville, KY 40202, USA
    Invest Ophthalmol Vis Sci 44:378-84. 2003
  4. ncbi Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness
    Naheed W Khan
    National Eye Institute, Bldg 31 Room 6A03, 31 Center Drive, MSC 2510, Bethesda, MD 20892 2110, USA
    J Neurophysiol 93:481-92. 2005
  5. ncbi Localization of nyctalopin in the mammalian retina
    Catherine W Morgans
    Neurological Sciences Institute, Oregon Health and Science University, Beaverton, 97006, USA
    Eur J Neurosci 23:1163-71. 2006
  6. ncbi CSNB1 in Chinese families associated with novel mutations in NYX
    Xueshan Xiao
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, PR China
    J Hum Genet 51:634-40. 2006
  7. pmc Mutations in NYX of individuals with high myopia, but without night blindness
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:330-6. 2007
  8. doi A common NYX mutation in Flemish patients with X linked CSNB
    B P Leroy
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Br J Ophthalmol 93:692-6. 2009
  9. doi A novel missense mutation in the NYX gene associated with high myopia
    Shea Ping Yip
    Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    Ophthalmic Physiol Opt 33:346-53. 2013
  10. ncbi Mutations in the CACNA1F and NYX genes in British CSNBX families
    Ilaria Zito
    Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK
    Hum Mutat 21:169. 2003

Research Grants

  1. Mouse Model of DBC Dysfunction
    Neal S Peachey; Fiscal Year: 2012
  2. Maureen A McCall; Fiscal Year: 2014
  3. Ronald G Gregg; Fiscal Year: 2016
  4. Mechanisms for regulation of cell adhesion and migration
    Julie L Kadrmas; Fiscal Year: 2013
  5. JULIE ERIKA M HAYDU; Fiscal Year: 2015
  6. COLLEEN ANN SWEENEY; Fiscal Year: 2016
  7. Alexandra C Newton; Fiscal Year: 2014
  8. LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTS
    Yongwon Choi; Fiscal Year: 2009
  9. Zebrafish Mutant Mapping Facility
    Ronald Gregg; Fiscal Year: 2007
  10. PROTEIN KINASE C AND PHOTORECEPTORS
    ALEXANDRA NEWTON; Fiscal Year: 2002

Detail Information

Publications239 found, 100 shown here

  1. ncbi Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Nat Genet 26:319-23. 2000
    ..NYX, which encodes a glycosylphosphatidyl (GPI)-anchored protein called nyctalopin, is a new and unique member of the small leucine-rich proteoglycan (SLRP) family...
  2. ncbi The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    C M Pusch
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Nat Genet 26:324-7. 2000
    ..This gene, designated NYX, encodes a protein of 481 amino acids (nyctalopin) and is expressed at low levels in tissues including retina, brain, testis and muscle...
  3. ncbi Identification of the gene and the mutation responsible for the mouse nob phenotype
    Ronald G Gregg
    Department of Biochemistry and Molecular Biology, University of Louisville, 319 Abraham Flexner Way, Louisville, KY 40202, USA
    Invest Ophthalmol Vis Sci 44:378-84. 2003
    ..b-wave) provides an animal model for the complete form of human X-linked congenital stationary night blindness (CSNB1)...
  4. ncbi Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness
    Naheed W Khan
    National Eye Institute, Bldg 31 Room 6A03, 31 Center Drive, MSC 2510, Bethesda, MD 20892 2110, USA
    J Neurophysiol 93:481-92. 2005
    ..CSNB1), a Mendelian genetic condition that results from mutations in the NYX gene encoding the protein nyctalopin. We probed cone pathway dysfunction in four human genotyped CSNB1 affected males by electroretinogram (ERG) ..
  5. ncbi Localization of nyctalopin in the mammalian retina
    Catherine W Morgans
    Neurological Sciences Institute, Oregon Health and Science University, Beaverton, 97006, USA
    Eur J Neurosci 23:1163-71. 2006
    ..The gene responsible for CSNB1, NYX, encodes a novel, leucine-rich repeat protein, nyctalopin. Consistent with its predicted glycosylphosphatidylinositol linkage, we show that recombinant nyctalopin is ..
  6. ncbi CSNB1 in Chinese families associated with novel mutations in NYX
    Xueshan Xiao
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, PR China
    J Hum Genet 51:634-40. 2006
    ..Here, two Chinese families with the complete form of CSNB (CSNB1) are presented. Linkage analysis of one family mapped the disease to Xp11-Xq13 where NYX is located...
  7. pmc Mutations in NYX of individuals with high myopia, but without night blindness
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:330-6. 2007
    ..Mutations in the nyctalopin gene (NYX) located at Xp11...
  8. doi A common NYX mutation in Flemish patients with X linked CSNB
    B P Leroy
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Br J Ophthalmol 93:692-6. 2009
    ..So far, mutations in two genes, NYX (nyctalopin) and GRM6 (metabotropic glutamate receptor 6) have been associated with this form of CSNB...
  9. doi A novel missense mutation in the NYX gene associated with high myopia
    Shea Ping Yip
    Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    Ophthalmic Physiol Opt 33:346-53. 2013
    Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene...
  10. ncbi Mutations in the CACNA1F and NYX genes in British CSNBX families
    Ilaria Zito
    Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK
    Hum Mutat 21:169. 2003
    ..Two causative genes (CACNA1F and NYX) for CSNBX have now been identified through positional cloning strategies...
  11. ncbi Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Mol Vis 11:179-83. 2005
    ..To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients...
  12. ncbi Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene
    Felix K Jacobi
    Molekulargenetisches Labor Universitäts Augenklinik, Tubingen, Germany
    Graefes Arch Clin Exp Ophthalmol 240:822-8. 2002
    To describe the clinical phenotype of the complete type of X-linked congenital stationary night blindness (CSNB1) with different types of mutations in the NYX gene.
  13. ncbi Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
    Arch Ophthalmol 107:1170-9. 1989
    ..We also recommend that the gene symbols CSNB1 and CSNB2 be used for complete congenital stationary night blindness and Aland disease, respectively.
  14. ncbi Structural macromolecules and supramolecular organisation of the vitreous gel
    P N Bishop
    Research Group in Eye and Vision Science, The Medical School and Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, UK
    Prog Retin Eye Res 19:323-44. 2000
    ....
  15. ncbi Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness
    Keith Bradshaw
    Ophthalmology Department, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    Doc Ophthalmol 107:155-64. 2003
    STRs and dark-adapted ERGs were recorded in nine normal subjects, nine patients with XLRS, 11 patients with CSNB1 and one patient with CSNB2...
  16. ncbi UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2
    O Brandau
    Abteilung für Medizinische Genetik, Kinderpoliklinik der Universität, Munchen, Germany
    Eur J Hum Genet 6:459-66. 1998
    ..Evaluation of patients revealed no UHX1 mutations using SSCP (10 CSNB1 and 20 XLRP) or deletion screening with cDNA hybridisation (13 CSNB1 and 43 XLRP)...
  17. ncbi Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome
    S I Candille
    Department of Biochemistry and Molecular Biology, University of Louisville, Kentucky 40202, USA
    Invest Ophthalmol Vis Sci 40:2748-51. 1999
    ..To determine the position on the X chromosome of the gene responsible for a spontaneous mouse mutation, nob (no b-wave), which matches the phenotype of complete X-linked congenital stationary night blindness (CSNB) type 1 in human...
  18. ncbi Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene
    H P Scholl
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital Tubingen, Germany
    Invest Ophthalmol Vis Sci 42:2728-36. 2001
    To study the slow and fast rod signals of the scotopic 15-Hz flicker ERG in patients carrying mutations in the NYX gene, which has been recently identified as the cause of the complete form of congenital stationary night blindness, CSNB1.
  19. pmc Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness
    Ronald G Gregg
    Department of Biochemistry and Molecular Biology, University of Louisville, KY 40202, USA
    J Neurophysiol 98:3023-33. 2007
    Mutations in the NYX gene that encodes the protein nyctalopin cause congenital stationary night blindness type 1...
  20. doi Nystagmus characteristics in congenital stationary night blindness (CSNB)
    C Pieh
    University of Freiburg, Department of Ophthalmology, Killianstrasse 5, 79100 Freiburg, Germany
    Br J Ophthalmol 92:236-40. 2008
    ..To analyse nystagmus characteristics in patients with congenital stationary night blindness (CSNB) for differentiation from other forms of early childhood nystagmus...
  21. pmc TRPM1 mutations are associated with the complete form of congenital stationary night blindness
    Makoto Nakamura
    Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Mol Vis 16:425-37. 2010
    ..To identify human transient receptor potential cation channel, subfamily M, member 1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB)...
  22. ncbi Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
    C Rozzo
    Istituto di Genetica Molecolare, CNR, Alghero, Italy
    Eur J Hum Genet 7:574-8. 1999
    ..retinal disorder, which can appear in two different clinical forms, complete and incomplete, associated with CSNB1 and CSNB2 loci on Xp...
  23. ncbi Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 46:4328-35. 2005
    ..Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB...
  24. ncbi Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick
    N Torben Bech-Hansen
    Department of Medical Genetics, Population Genomics Research Group, Faculty of Medicine, University of Calgary, 3330 Hospital Drive, N W, Calgary, Alberta, T2N 4N1, Canada
    Mamm Genome 16:815-24. 2005
    We describe the isolation and molecular characterization of the chick ortholog of nyctalopin (NYX), the gene responsible for X-linked complete congenital stationary night blindness (CSNB1, also known as cCSNB)...
  25. ncbi A potential spontaneous rat model of X-linked congenital stationary night blindness
    Zuoming Zhang
    Department of Clinical Aerospace Medicine, The Fourth Military Medical University, Xi an, PR China
    Doc Ophthalmol 107:53-7. 2003
    ..To describe a possible spontaneous rat model of X-linked congenital stationary night blindness (CSNB)...
  26. ncbi Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis
    Marc J Abramowicz
    Service de Genetique Medicale, Hôpital Erasme and Laboratoire de Génétique Médicale ULB, Brussels, Belgium
    Am J Med Genet A 132:76-9. 2005
    ..CSNB is usually transmitted as a monogenic trait, and most familial cases result from mutations of the NYX gene located on the X chromosome...
  27. doi Genotyping microarray for CSNB-associated genes
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Invest Ophthalmol Vis Sci 50:5919-26. 2009
    ....
  28. pmc Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
    Zheng Li
    University College London UCL Institute of Ophthalmology, London EC1V 9EL, UK
    Am J Hum Genet 85:711-9. 2009
    ..In humans, mutations in NYX and GRM6 have been shown to cause the condition...
  29. ncbi Differential adherence of osteoarthritis and rheumatoid arthritis synovial fibroblasts to cartilage and bone matrix proteins and its implication for osteoarthritis pathogenesis
    J Schedel
    Department of Internal Medicine I, Division of Rheumatology and Clinical Immunology, University Hospital of Regensburg, Regensburg, Germany
    Scand J Immunol 60:514-23. 2004
    ..g. integrins: collagen/integrin alpha(2)beta(1)) and that higher numbers of OA-SF adhered to the cartilage and bone matrix proteins than did RA-SF...
  30. ncbi Retrospective evaluation of 131I deposition density and thyroid dose in Poland after the Chernobyl accident
    Zofia Pietrzak-Flis
    Central Laboratory for Radiological Protection, Department of Radiation Hygiene, Ul Kowaliowa 7, 03 194 Warsaw, Poland
    Health Phys 84:698-708. 2003
    ..doses from 131I were evaluated for 5-y-old children, 10-y-old children, and adults using the computer model CLRP for the situations with and without countermeasures including iodine prophylaxis...
  31. pmc Molecular characterization and cellular localization of TpLRR, a processed leucine-rich repeat protein of Treponema pallidum, the syphilis spirochete
    D V Shevchenko
    Department of Internal Medicine, U T Southwestern Medical Center at Dallas, Texas 75235, USA
    J Bacteriol 179:3188-95. 1997
    ..The function(s) of TpLRR is currently unknown; however, protein-protein and/or protein-lipid interactions mediated by its LRR motifs may facilitate interactions between components of the T. pallidum cell envelope...
  32. pmc The C-terminal tail of Yersinia pseudotuberculosis YopM is critical for interacting with RSK1 and for virulence
    Melissa W McCoy
    Department of Molecular Biology and Microbiology, Tufts University, Boston, Massachusetts 02111, USA
    Infect Immun 78:2584-98. 2010
    ..Decreases in NK cells after Y. pseudotuberculosis infection did not correlate with YopM expression. In conclusion, the C terminus of YopM is essential for RSK1 interactions and for virulence...
  33. ncbi Complement inhibitor C4b-binding protein interacts directly with small glycoproteins of the extracellular matrix
    Kaisa E Happonen
    Department of Laboratory Medicine, Wallenberg Laboratory, University Hospital Malmo, Lund University, Malmo, Sweden
    J Immunol 182:1518-25. 2009
    ....
  34. ncbi FBXL16 is a novel E2F1-regulated gene commonly upregulated in p16INK4A- and p14ARF-silenced HeLa cells
    Kazuyuki Sato
    Department of Life Sciences, Faculty of Agriculture, Meiji University, Tama ku, Kawasaki, Kanagawa 214 8571, Japan
    Int J Oncol 36:479-90. 2010
    ..Together, our results illustrate a unique aspect of the interdependence between the p16INK4A/pRb/E2F1 and p14ARF/p53 pathways at a molecular level...
  35. pmc The CRL2LRR-1 ubiquitin ligase regulates cell cycle progression during C. elegans development
    Jorge Merlet
    Institut Jacques Monod, CNRS, Universite Paris Diderot, Bâtiment Buffon 15 rue Hélène Brion, 75205 Paris Cedex 13, France
    Development 137:3857-66. 2010
    ..Collectively, these observations highlight a crucial function of the CRL2(LRR-1) complex in genome stability via maintenance of DNA replication integrity during C. elegans development...
  36. doi Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
    Mohammad Alimohammadi
    University Hospital, Uppsala University, Uppsala, Sweden
    N Engl J Med 358:1018-28. 2008
    ....
  37. doi A molecular platform in neurons regulates inflammation after spinal cord injury
    Juan Pablo de Rivero Vaccari
    Department of Physiology and Biophysics and Neurological Surgery and Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    J Neurosci 28:3404-14. 2008
    ..Thus, rat spinal cord neurons contain a caspase-1, pro-ILbeta, and pro-IL-18 activating complex different from the human NALP1 inflammasome that constitutes an important arm of the innate CNS inflammatory response after SCI...
  38. ncbi An evolutionarily conserved leucine-rich repeat protein CLERC is a centrosomal protein required for spindle pole integrity
    Yoshinori Muto
    Department of Functional Bioscience, Gifu University School of Medicine, Gifu, Japan
    Cell Cycle 7:2738-48. 2008
    ..These data indicate that the major function of CLERC during mitosis is to maintain the structural integrity of centrosomes, thereby contributing to spindle bipolarity...
  39. pmc TLRR (lrrc67) interacts with PP1 and is associated with a cytoskeletal complex in the testis
    Rong Wang
    Department of Anatomy and Cell Biology, Brody School of Medicine at East Carolina University, Greenville, NC 27834, USA
    Biol Cell 102:173-89. 2010
    ....
  40. doi Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoospores
    Reena D Narayan
    Plant Science Division, Research School of Biology, The Australian National University, Canberra, ACT 2601, Australia
    Fungal Genet Biol 47:663-71. 2010
    ..Our observations indicate that zoospore motility is not required for zoospore release from P. nicotianae sporangia or for breakage of the evanescent vesicle into which zoospores are initially discharged...
  41. ncbi A leucine-rich repeat protein is required for growth promotion and enhanced seed production mediated by the endophytic fungus Piriformospora indica in Arabidopsis thaliana
    Bationa Shahollari
    Friedrich Schiller Universitat Jena, Institut für Allgemeine Botanik and Pflanzenphysiologie, Dornburger Str 159, 07743 Jena, Germany
    Plant J 50:1-13. 2007
    ..indica interaction. Thus, pii-2, and presumably also At5g16590, two proteins present in plasma membrane microdomains, appear to be involved in P. indica-induced growth promotion and enhanced seed production in Arabidopsis thaliana...
  42. ncbi Neuronal leucine-rich repeat protein-3 amplifies MAPK activation by epidermal growth factor through a carboxyl-terminal region containing endocytosis motifs
    Katsumi Fukamachi
    Experimental Pathology, Chemotherapy Division, National Cancer Center Research Institute, 5 1 1 Tsukiji, Chuo Ku, Tokyo 104 0045, Japan
    J Biol Chem 277:43549-52. 2002
    ..We propose that NLRR-3 potentiates Ras-MAPK signaling by facilitating internalization of EGF in clathrin-coated vesicles...
  43. ncbi The primary structure of a basic leucine-rich repeat protein, PRELP, found in connective tissues
    E Bengtsson
    Department of Cellular and Molecular Biology, Lund University, Sweden
    J Biol Chem 270:25639-44. 1995
    ..Human articular chondrocyte and rat chondrosarcoma cell RNAs contained an additional mRNA of approximately 1.6 and 1.8 kilobases, respectively...
  44. ncbi Structural diversity of leucine-rich repeat proteins
    A V Kajava
    Swiss Institute for Experimental Cancer Research, Ch des Boveresses 155, s Lausanne, Epalinges, CH 1066, Switzerland
    J Mol Biol 277:519-27. 1998
    ..The approach used for the prediction of the leucine-rich repeat protein structures can be applied to other proteins containing internal repeats of about 20 to 30 residue in length...
  45. ncbi Blue-on-yellow perimetry in the complete type of congenital stationary night blindness
    H Terasaki
    Department of Ophthalmology, Nagoya University School of Medicine, Japan
    Invest Ophthalmol Vis Sci 40:2761-4. 1999
    To resolve the discrepancy between nonrecordable full-field short wavelength cone electroretinograms (S-cone ERGs) and the presence of normal color vision in patients with the complete type of congenital stationary night blindness (CSNB1).
  46. ncbi The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor
    Eva Bengtsson
    Department of Cell and Molecular Biology, Section for Connective Tissue Biology, Lund University, SE 221 84 Lund, Sweden
    J Biol Chem 277:15061-8. 2002
    ..Based on the location of PRELP and its interaction with perlecan heparan sulfate chains and collagen, we propose a function of PRELP as a molecule anchoring basement membranes to the underlying connective tissue...
  47. ncbi Protein localization in the human eye and genetic screen of opticin
    James S Friedman
    Department of Ophthalmology, University of Alberta, Edmonton, AB, Canada T6G 2H7
    Hum Mol Genet 11:1333-42. 2002
    ..The protein localization pattern of opticin and our preliminary screen of AMD patients suggest that a larger AMD patient screen may be warranted...
  48. ncbi Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases
    C M Pusch
    Molecular Genetics Laboratory, University Eye Hospital II, Tubingen, Germany
    J Appl Genet 42:89-102. 2001
    ..5 Mb proximal region of the critical region for X-linked congenital stationary night blindness type I (CSNB1) between markers DXS993 and DXS228...
  49. ncbi Aberrant expression and localization of decorin in human oral dysplasia and squamous cell carcinoma
    Abhijit G Banerjee
    Department of Biochemistry and Molecular Biology, University of Nebraska Medical Center, 984525 Nebraska Medical Center, Omaha, NE 68198 4525, USA
    Cancer Res 63:7769-76. 2003
    ..Further studies to characterize such interacting proteins and localization-dependent effects of aberrant decorin expressed in oral cancer progression are warranted...
  50. doi Constitutive activation of a CC-NB-LRR protein alters morphogenesis through the cytokinin pathway in Arabidopsis
    Kadunari Igari
    Graduate School of Biological Sciences, Nara Institute of Science and Technology, Nara 630 0192, Japan
    Plant J 55:14-27. 2008
    ..From these data, we propose that the modification of the cytokinin pathway might be involved in some R protein-mediated responses...
  51. doi Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathy
    Keith Bradshaw
    Vision Science, Ophthalmology Department, Addenbrooke s Hospital, Cambridge, UK
    Vision Res 50:2505-14. 2010
    ..Conversely, the OFF-response was normal in CSNB1 but the a-wave did not increase in the dark...
  52. pmc cDNA-SRAP and its application in differential gene expression analysis: a case study in Erianthus arundinaceum
    Youxiong Que
    Key Lab of Sugarcane Biology and Genetic Breeding, Ministry of Agriculture, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China
    J Biomed Biotechnol 2012:390107. 2012
    ..This study constitutes the first report of genes activated in E. arundinaceum by drought stress and opens up the application of cDNA-SRAP in differential gene expression analysis in E. arundinaceum under certain stress conditions...
  53. doi Proline/arginine-rich end leucine-rich repeat protein N-terminus is a novel osteoclast antagonist that counteracts bone loss
    Nadia Rucci
    Department of Biotechnological and Applied Clinical Sciences, University of L Aquila, L Aquila, Italy
    J Bone Miner Res 28:1912-24. 2013
    ....
  54. doi The nucleotide-binding domain and leucine-rich repeat protein-3 inflammasome is not activated in airway smooth muscle upon toll-like receptor-2 ligation
    Jeremy A Hirota
    1 University of British Columbia James Hogg Research Centre Heart and Lung Institute, St Paul s Hospital, Vancouver, British Columbia, Canada and
    Am J Respir Cell Mol Biol 49:517-24. 2013
    ..Activation of the NLRP3 inflammasome by invading pathogens may prove cell type-specific in exacerbations of airway inflammation in asthma...
  55. doi Characterization of the LOV1-mediated, victorin-induced, cell-death response with virus-induced gene silencing
    Brian M Gilbert
    Department of Botany and Plant Pathology, Oregon State University, Corvallis, OR, USA
    Mol Plant Microbe Interact 26:903-17. 2013
    ..Silencing the latter four also inhibited cell death and disease resistance mediated by the PTO resistance gene. Together, these results provide evidence that the victorin response mediated by LOV1 is a defense response...
  56. pmc Assessment of night vision problems in patients with congenital stationary night blindness
    Mieke M C Bijveld
    Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands
    PLoS ONE 8:e62927. 2013
    ..CSNB can be subdivided in CSNB2 (rod signal transmission reduced) and CSNB1 (rod signal transmission absent)...
  57. pmc FKBP51 reciprocally regulates GRα and PPARγ activation via the Akt-p38 pathway
    Lance A Stechschulte
    Center for Diabetes and Endocrine Research L A S, T d H, S S G, S M N, E R S, Department of Physiology and Pharmacology, University of Toledo College of Medicine, Toledo, Ohio 43614 and Herman B Wells Center for Pediatric Research W S, Section of Pediatric Cardiology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana 46202
    Mol Endocrinol 28:1254-64. 2014
    ....
  58. pmc LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status
    April Reynolds
    Parkinson s Institute Sunnyvale, CA, USA
    Front Mol Neurosci 7:54. 2014
    ..These findings indicate that comparative analysis of both Ser1292 and Ser910/935/955/973 phosphorylation sites will provide important and distinct measures of LRRK2 kinase and biological activity in vitro and in vivo. ..
  59. doi Intracellular fragment of NLRR3 (NLRR3-ICD) stimulates ATRA-dependent neuroblastoma differentiation
    Jesmin Akter
    Laboratory of Innovative Cancer Therapeutics, Chiba Cancer Center Research Institute, Chiba 260 8717, Japan
    Biochem Biophys Res Commun 453:86-93. 2014
    ....
  60. pmc Exploitation of the ability of γ-tocopherol to facilitate membrane co-localization of Akt and PHLPP1 to develop PHLPP1-targeted Akt inhibitors
    Ribai Yan
    Division of Medicinal Chemistry and Pharmacognosy, College of Pharmacy and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, United States
    J Med Chem 58:2290-8. 2015
    ..Moreover, 20 was orally active in suppressing xenograft tumor growth in nude mice, which underlines the translational potential of this new class of Akt inhibitor in PTEN-deficient cancers. ..
  61. doi Imipramine blue halts head and neck cancer invasion through promoting F-box and leucine-rich repeat protein 14-mediated Twist1 degradation
    W H Yang
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Oncogene 35:2287-98. 2016
    ..Together, this study demonstrates the potent anti-invasion and EMT-inhibition effect of IB, suggesting the potential of IB in treating local invasion-predominant cancers. ..
  62. doi The Histone Demethylase FBXL10 Regulates the Proliferation of Spermatogonia and Ensures Long-Term Sustainable Spermatogenesis in Mice
    Manabu Ozawa
    Laboratory of Developmental Genetics, Center for Experimental Medicine and Systems Biology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan
    Biol Reprod 94:92. 2016
    ..These data suggest that Fbxl10 plays important roles in long-term sustainable spermatogenesis via regulating cell cycle. ..
  63. doi CO2-responsive polymeric materials: synthesis, self-assembly, and functional applications
    Ali Darabi
    Department of Chemical Engineering, Queen s University, Kingston, Canada
    Chem Soc Rev 45:4391-436. 2016
    ..reversible deactivation radical polymerization (RDRP), formerly known as controlled/living radical polymerization (CLRP), a powerful technique for the preparation of well-defined (co)polymers with precise control over molecular weight ..
  64. ncbi FBXL5 attenuates RhoGDI2-induced cisplatin resistance in gastric cancer cells
    W D Wu
    Department of Gastrointestinal Surgery, and 2Department of Oncology Shanghai General Hospital of Nanjing Medical University, Shanghai, China
    Eur Rev Med Pharmacol Sci 20:2551-7. 2016
    ....
  65. doi Revision of the genus Allometopon Kertész (Diptera: Clusiidae)
    Owen Lonsdale
    Agriculture and Agri Food Canada, 960 Carling Avenue, Ottawa, Ontario, K1A 0C6, Canada Email
    Zootaxa 4106:1-127. 2016
    ..infernum, A. juxtum, A. kokodensis, A. lunatum, A. lux, A. macalpinei, A. machaeroges, A. magnum, A. monstrum, A. nyx, A. phenomena, A. philomela, A. platystylum, A. plicatum, A. procne, A. selenis, A. solare, A. suspirium, A...
  66. pmc Activation of Cannabinoid Receptor 2 Ameliorates DSS-Induced Colitis through Inhibiting NLRP3 Inflammasome in Macrophages
    Ping Ke
    Department of Pharmacology, School of Pharmacy, Second Military Medical University, Shanghai, China
    PLoS ONE 11:e0155076. 2016
    ..We conclude that activation of CB2R ameliorates DSS-induced colitis through enhancing autophagy that may inhibit NLRP3 inflammasome activation in macrophages. ..
  67. doi Protective effect of gedunin on TLR-mediated inflammation by modulation of inflammasome activation and cytokine production: Evidence of a multitarget compound
    Perla Villani Borges
    Laboratório de Farmacologia Aplicada, Farmanguinhos, Fundacao Oswaldo Cruz, Rio de Janeiro, Brazil
    Pharmacol Res 115:65-77. 2016
    ..Overall, our data demonstrate that gedunin modulates TLR4, TLR3 and TLR2-mediated responses and reveal new molecular targets for this compound...
  68. doi miR-3117 regulates hepatocellular carcinoma cell proliferation by targeting PHLPPL
    Xia Cui
    Department of Hepatopathy, Liaocheng People s Hospital, 67 Dongchang West Road, Liaocheng, 252000, China
    Mol Cell Biochem 424:195-201. 2017
    ..Double knockdown of miR-3117 and PHLPPL copied the phenotypes caused by miR-3117 overexpression, suggesting that miR-3117 contributes to the proliferation of HepG2 by targeting PHLPPL. Our study provided a target for HCC therapy...
  69. pmc Single Locus Maintains Large Variation of Sex Reversal in Half-Smooth Tongue Sole (Cynoglossus semilaevis)
    Li Jiang
    Chinese Academy of Fishery Sciences
    G3 (Bethesda) . 2016
    ..This SNP is located at the third intron of the F-box and leucine rich repeat protein 17 (FBXL17) gene on the Z chromosome, it has two alleles, A and T...
  70. ncbi NALP1 in vitiligo-associated multiple autoimmune disease
    Ying Jin
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA
    N Engl J Med 356:1216-25. 2007
    ..The group includes various combinations of generalized vitiligo, autoimmune thyroid disease, latent autoimmune diabetes in adults, rheumatoid arthritis, psoriasis, pernicious anemia, systemic lupus erythematosus, and Addison's disease...
  71. doi An avirulent tomato powdery mildew isolate induces localized acquired resistance to a virulent isolate in a spatiotemporal manner
    Alireza Seifi
    Wageningen UR Plant Breeding, Wageningen University and Research Center, Droevendaalsesteeg, The Netherlands
    Mol Plant Microbe Interact 25:372-8. 2012
    ..Altogether, we report an advanced technique for investigating LAR phenomena, and provide data on spatiotemporal characteristics of LAR in tomato epidermal cells...
  72. pmc NF-κB1 p50 promotes p53 protein translation through miR-190 downregulation of PHLPP1
    Y Yu
    1 Nelson Institute of Environmental Medicine, New York University School of Medicine, Tuxedo, NY, USA 2 Oversea Laboratory, Center for Medical Research, Wuhan University, Wuhan, Hubei, China
    Oncogene 33:996-1005. 2014
    ..Collectively, we have identified a novel function of p50 in modulating p53 protein translation via regulation of the miR-190/PHLPP1/Akt-S6 ribosomal protein pathway. ..
  73. pmc The EGP1 gene may be a positive regulator of protein phosphatase type 1 in the growth control of Saccharomyces cerevisiae
    N Hisamoto
    Department of Molecular Biology, Faculty of Science, Nagoya University, Japan
    Mol Cell Biol 15:3767-76. 1995
    ..Egp1 and PP1 directly interact, as assayed by coimmunoprecipitation. These results suggest that Egp1 functions as a positive modulator of PP1 in the growth control of S. cerevisiae...
  74. ncbi Sequence and expression of LRR47, a novel embryonic leucine rich repeat protein of Drosophila
    M Ntwasa
    Department of Biochemistry, University of Cambridge, UK
    Biochim Biophys Acta 1218:181-6. 1994
    ..The LRR47 gene maps to position 32A on the left arm of chromosome 2, an interval in which three genes with semi-lethal maternal effects (dal, hup and wdl) are located...
  75. pmc Molecular recognition of human angiogenin by placental ribonuclease inhibitor--an X-ray crystallographic study at 2.0 A resolution
    A C Papageorgiou
    Department of Biology and Biochemistry, University of Bath, Claverton Down, Bath BA2 7AY, UK
    EMBO J 16:5162-77. 1997
    ..The implications of these findings for the development of small, hRI-based inhibitors of Ang for therapeutic use are discussed...
  76. ncbi Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection
    J S Friedman
    Department of Ophthalmology, University of Alberta, Edmonton, Canada
    Invest Ophthalmol Vis Sci 41:2059-66. 2000
    ..To identify and characterize genes expressed in the iris...
  77. ncbi Fliih, the murine homologue of the Drosophila melanogaster flightless I gene: nucleotide sequence, chromosomal mapping and overlap with Llglh
    H D Campbell
    Centre for Molecular Structure and Function, Research School of Biological Sciences, John Curtin School of Medical Research, The Australian National University, Canberra, ACT
    DNA Seq 11:29-40. 2000
    ..The overlap region contains polyA signals for both genes and is conserved between human and mouse...
  78. pmc Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons
    Y Ezura
    Department of Pathology Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Cell Biol 151:779-88. 2000
    ..These studies indicate that lumican and fibromodulin have different developmental stage and leucine-rich repeat protein specific functions in the regulation of fibrillogenesis...
  79. ncbi Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
    Richard G Weleber
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
    Ophthalmic Genet 23:71-97. 2002
    ..CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which ..
  80. ncbi LeSTIG1, an extracellular binding partner for the pollen receptor kinases LePRK1 and LePRK2, promotes pollen tube growth in vitro
    Weihua Tang
    Plant Gene Expression Center, United States Department of Agriculture Agricultural Research Service, and Department of Plant and Microbial Biology, University of California at Berkeley, 800 Buchanan Street, Albany, CA 94710, USA
    Plant J 39:343-53. 2004
    ..Exogenous LeSTIG1 promotes pollen tube growth in vitro. The interaction of these pollen kinases with LeSTIG1 supports the notion that LePRK1 and LePRK2 are involved in mediating pollen-pistil interactions...
  81. ncbi Tannerella forsythia-induced alveolar bone loss in mice involves leucine-rich-repeat BspA protein
    A Sharma
    Department of Oral Biology, School of Dental Medicine, State University of New York, 3435 Main Street, Buffalo, NY 14214, USA
    J Dent Res 84:462-7. 2005
    ..In conclusion, evidence is presented in support of T. forsythia as an important organism involved in inducing alveolar bone loss, and the BspA protein is an important virulence factor of this bacterium...
  82. ncbi The Anp32 family of proteins containing leucine-rich repeats
    Antoni Matilla
    Institute of Child Health, University College London, London, UK
    Cerebellum 4:7-18. 2005
    ....
  83. pmc Identification of a novel antigen of Schistosoma mansoni shared with Plasmodium falciparum and evaluation of different cross-reactive antibody subclasses induced by human schistosomiasis and malaria
    Christine Pierrot
    Unité INSERM 547, IFR 17, Institut Pasteur de Lille, 1 rue du Prof Calmette, 59019 Lille, France
    Infect Immun 74:3347-54. 2006
    ..In addition, the levels of anti-SmLRR IgG4, but not the levels of IgG3, correlated positively with the intensity of S. mansoni infection...
  84. ncbi Bacterial killing by heparin-binding peptides from PRELP and thrombospondin
    Martin Malmsten
    Department of Pharmacy, Uppsala University, SE 751 23 Uppsala, Sweden
    Matrix Biol 25:294-300. 2006
    ..Thus, the data disclose a novel antimicrobial activity of heparin-binding regions of matrix glycoproteins. The findings can be utilized in the development of novel AMPs for therapeutic use...
  85. ncbi Nephrocan, a novel member of the small leucine-rich repeat protein family, is an inhibitor of transforming growth factor-beta signaling
    Yoshiyuki Mochida
    Dental Research Center, University of North Carolina, Chapel Hill, North Carolina 27599 7455, USA
    J Biol Chem 281:36044-51. 2006
    ..Taken together, NPN is a novel member of the SLRP family that may play important roles in kidney development and pathophysiology by functioning as an endogenous inhibitor of TGF-beta signaling...
  86. pmc Thioredoxin h5 is required for victorin sensitivity mediated by a CC-NBS-LRR gene in Arabidopsis
    Teresa A Sweat
    Department of Botany and Plant Pathology, Center for Genome Research and Biocomputing, Oregon State University, Corvallis, Oregon 97331 2902, USA
    Plant Cell 19:673-87. 2007
    ..Finally, we determined that only the first of the two active-site Cys residues in ATTRX5 is required for the response to victorin, suggesting that ATTRX5 function in the victorin pathway involves an atypical mechanism of action...
  87. ncbi The Arabidopsis gain-of-function mutant ssi4 requires RAR1 and SGT1b differentially for defense activation and morphological alterations
    Fasong Zhou
    Boyce Thompson Institute for Plant Research, Tower Road, Ithaca, NY 14853, USA
    Mol Plant Microbe Interact 21:40-9. 2008
    ..Thus, multiple environmental factors impact on ssi4 signaling, as has been observed for other constitutive defense mutants and R gene-triggered pathways...
  88. doi Benchmarking EGSnrc in the kilovoltage energy range against experimental measurements of charged particle backscatter coefficients
    E S M Ali
    Carleton Laboratory for Radiotherapy Physics, Ottawa Carleton Institute of Physics, Carleton University, 1125 Colonel By Drive, Ottawa, ON K1S 5B6, Canada
    Phys Med Biol 53:1527-43. 2008
    ..A documented EGSnrc user-code customized for backscatter calculations is available from the authors at http://www.physics.carleton.ca/clrp/backscatter.
  89. pmc Depletion of Pleckstrin homology domain leucine-rich repeat protein phosphatases 1 and 2 by Bcr-Abl promotes chronic myelogenous leukemia cell proliferation through continuous phosphorylation of Akt isoforms
    Isao Hirano
    Department of Internal Medicine III, Cancer Center, Hamamatsu University School of Medicine, Shizuoka, Japan
    J Biol Chem 284:22155-65. 2009
    ..Thus, Bcr-Abl represses the expression of PHLPP1 and PHLPP2 and continuously activates Akt1, -2, and -3 via phosphorylation on Ser-473, resulting in the proliferation of CML cells...
  90. pmc Leucine-rich repeat protein complex activates mosquito complement in defense against Plasmodium parasites
    Michael Povelones
    Division of Cell and Molecular Biology, Department of Life Sciences, Imperial College London, Exhibition Road, London SW7 2AZ, UK
    Science 324:258-61. 2009
    ..LRIM1 and APL1C are members of a protein family with orthologs in other disease vector mosquitoes and appear to be important effectors in innate mosquito defenses against human pathogens...
  91. doi PH domain leucine-rich repeat protein phosphatase 1 contributes to maintain the activation of the PI3K/Akt pro-survival pathway in Huntington's disease striatum
    A Saavedra
    Departament de Biologia Cellular, Immunologia i Neurociencies, Facultat de Medicina, Universitat de Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Casanova 143, Barcelona, Spain
    Cell Death Differ 17:324-35. 2010
    ..In the striatum, these reduced levels of PHLPP1 can contribute to maintain high levels of activated Akt that may delay cell death and allow the recovery of neuronal viability after mutant huntingtin silencing...
  92. doi Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture
    H J Simonsz
    Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam
    Strabismus 17:158-64. 2009
    ..Eight boys had CACNA1F mutations, and 1 boy had a NYX mutation, compatible with incomplete or complete congenital stationary nightblindness (iCSNB or cCSNB), ..
  93. pmc A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites
    Jillian N Pearring
    Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky 40202, USA
    J Neurosci 31:10060-6. 2011
    ..We report that the extracellular membrane-attached protein nyctalopin is required for the normal expression of TRPM1 on the dendrites of DBCs in mus musculus...
  94. pmc Diacylglycerol kinase δ modulates Akt phosphorylation through pleckstrin homology domain leucine-rich repeat protein phosphatase 2 (PHLPP2)
    Tracy M Crotty
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
    J Biol Chem 288:1439-47. 2013
    ..Our collective data indicate that DGKδ is a pertinent cancer target, and our studies could lay the groundwork for development of novel cancer therapeutics...
  95. pmc Novel small leucine-rich repeat protein podocan is a negative regulator of migration and proliferation of smooth muscle cells, modulates neointima formation, and is expressed in human atheroma
    Randolph Hutter
    Departments of Medicine and Cardiology, Mount Sinai School of Medicine, New York, NY R H, L H, W S S, C G, P T, V F, J J B Department of Cardiology, Elisabeth Klinikum, Schmalkalden, Germany G B Department of Medicine, Duke University, Durham, NC M E K and Department of Medicine, Baylor College of Medicine, Houston, TX P E K
    Circulation 128:2351-63. 2013
    ..In all these conditions, we concomitantly evaluated the Wnt-TCF (T-cell factor) pathway...
  96. pmc AAV-mediated expression of human PRELP inhibits complement activation, choroidal neovascularization and deposition of membrane attack complex in mice
    M T Birke
    Department of Ophthalmology, Tufts University School of Medicine, Boston, MA, USA
    Gene Ther 21:507-13. 2014
    ..PRELP reduced deposition of MAC in vivo by 25.5%. Our results have implications for the development of complement inhibitors as a therapy for AMD...
  97. pmc Essential role of PH domain and leucine-rich repeat protein phosphatase 2 in Nrf2 suppression via modulation of Akt/GSK3β/Fyn kinase axis during oxidative hepatocellular toxicity
    F Rizvi
    1 Academy of Scientific and Innovative Research, New Delhi, India 2 Herbal Research Section, Food Drug and Chemical Toxicology Division, Council of Scientific and Industrial Research Indian Institute of Toxicology Research CSIR IITR, Lucknow, India
    Cell Death Dis 5:e1153. 2014
    ..The study indicates that PHLPP2 could serve as a new target for developing strategies to manage pathological conditions exacerbated due to oxidative stress. ..
  98. pmc Refractive index measurement of the mouse crystalline lens using optical coherence tomography
    Ranjay Chakraborty
    Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Rd NE Atlanta, GA 30322, USA Center of Excellence in Visual and Neurocognitive Rehabilitation, Atlanta VA Medical Center, 1670 Clairmont Road, Decatur, GA 30033, USA
    Exp Eye Res 125:62-70. 2014
    ..in thickness and refractive index of the mouse crystalline lens for two different strains, wild-type (WT) and a nyx mutant (nob) over the course of normal visual development or after form deprivation...
  99. doi Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility?
    Jessica L Andrews
    Centre for Translational Neuroscience, Illawarra Health and Medical Research Institute, Faculty of Science, Medicine and Health, University of Wollongong, New South Wales 2522, Australia
    Genet Res (Camb) 96:e15. 2014
    ..Regarding the rising interest in ubiquitin-related proteins as a therapeutic target in other pathologies such as cancer, further research into the role of ubiquitin pathways in schizophrenia seems topical and timely...
  100. pmc Artificial Recruitment of UAF1-USP Complexes by a PHLPP1-E1 Chimeric Helicase Enhances Human Papillomavirus DNA Replication
    David Gagnon
    Institut de recherches cliniques de Montreal IRCM, Montreal, Quebec, Canada Department of Biochemistry and Molecular Medicine, Universite de Montreal, Montreal, Quebec, Canada
    J Virol 89:6227-39. 2015
    ....

Research Grants15

  1. Mouse Model of DBC Dysfunction
    Neal S Peachey; Fiscal Year: 2012
    ..by defects in depolarizing bipolar cell (DBC) signal transduction and in patients has been linked to mutations in NYX, GRM6 or TRPM1...
  2. Maureen A McCall; Fiscal Year: 2014
    ..We have three unique mouse models of CSNB1 that we will continue to use to probe the synaptic circuitry underlying CSNB, in which normal photoreceptor ..
  3. Ronald G Gregg; Fiscal Year: 2016
    ..Mutations in GRM6, NYX, TRPM1 and GPR179 cause cCSNB. The mechanism by which mGluR6 signals TRPM1 is largely unknown...
  4. Mechanisms for regulation of cell adhesion and migration
    Julie L Kadrmas; Fiscal Year: 2013
    ..abstract_text> ..
  5. JULIE ERIKA M HAYDU; Fiscal Year: 2015
    ..Overall, these studies will characterize the roles and mechanisms of FBXL4 in the pathogenesis of T-ALL. ..
  6. COLLEEN ANN SWEENEY; Fiscal Year: 2016
    ..In Aim 2, we will examine the role of Lrig1 in crosstalk between the estrogen receptor-a and ErbB2 with implications for endocrine resistance. ..
  7. Alexandra C Newton; Fiscal Year: 2014
    ..In addition, we will address the roles of PHLPP1 and PHLPP2 in prostate cancer using a mouse model and in breast cell growth using a 3D culture model. ..
  8. LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTS
    Yongwon Choi; Fiscal Year: 2009
    ....
  9. Zebrafish Mutant Mapping Facility
    Ronald Gregg; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  10. PROTEIN KINASE C AND PHOTORECEPTORS
    ALEXANDRA NEWTON; Fiscal Year: 2002
    ..Specifically, the effect of this phosphorylation on rhodopsin s macromolecular interactions (transducin coupling, arrestin binding) will be explored. ..
  11. MOLECULAR GENETIC ANALYSIS OF S. MUTANS CARIOGENICITY
    Ashu Sharma; Fiscal Year: 2004
    ..The specific aims of this proposal are designed to provide new information regarding essential virulence factors of S. mutans which could be exploited to design novel anticaries strategies. ..
  12. Oral spirochetes: molecular genetic analysis
    Ashu Sharma; Fiscal Year: 2004
    ..pallidum, may play a role in periodontitis will be examined. These approaches should increase understanding of the molecular basis for the pathogenicity of spirochetes. ..
  13. Genetic Control of Schwann Cell Differentiation
    JOHN RUTLEDGE BERMINGHAM; Fiscal Year: 2011
    ..By understanding how the Lgi4 protein controls Schwann cell development, we will establish new avenues for the treatment of myelin disorders and nerve injury. ..
  14. The role of nyctalopin in the mammalian retina
    CATHERINE MORGANS; Fiscal Year: 2006
    ..The human gene responsible for CSNB1, NYX, encodes a novel protein, nyctalopin, belonging to the family of leucine rich repeat (LRR) proteins...
  15. Calcium channels at ribbon synapses in the retina
    CATHERINE MORGANS; Fiscal Year: 2008
    ..The results of these experiments will provide insight into the composition and functional organization of retinal ribbon synapses and into the perturbation of retinal function associated with CSNB2. ..