Genomes and Genes
Gene Symbol: NYX
Alias: CLRP, CSNB1, CSNB1A, CSNB4, NBM1, leucine-rich repeat protein
Publications210 found, 100 shown here
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN T Bech-Hansen
Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
Nat Genet 26:319-23. 2000..Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref...
- Identification of the gene and the mutation responsible for the mouse nob phenotypeRonald 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)...
- Localization of nyctalopin in the mammalian retinaCatherine W Morgans
Neurological Sciences Institute, Oregon Health and Science University, Beaverton, 97006, USA
Eur J Neurosci 23:1163-71. 2006Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary visual disease characterized by abnormalities in both the dark- and light-adapted electroretinogram, consistent with a defect in synaptic transmission ..
- The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat proteinC M Pusch
Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
Nat Genet 26:324-7. 2000..can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form. The CSNB1 locus has been mapped to a 5-cM linkage interval in Xp11.4 (refs 2,5-7)...
- A novel missense mutation in the NYX gene associated with high myopiaShea Ping Yip
Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
Ophthalmic Physiol Opt 33:346-53. 2013Myopia 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...
- CSNB1 in Chinese families associated with novel mutations in NYXXueshan 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...
- A common NYX mutation in Flemish patients with X linked CSNBB 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...
- Mutations in NYX of individuals with high myopia, but without night blindnessQingjiong Zhang
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
Mol Vis 13:330-6. 2007..4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1...
- Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night BlindnessNaheed W Khan
National Eye Institute, Bldg 31 Room 6A03, 31 Center Drive, MSC 2510, Bethesda, MD 20892 2110, USA
J Neurophysiol 93:481-92. 2005Retinal on-pathway dysfunction is implicated in human complete-type congenital stationary night blindness (CSNB1), a Mendelian genetic condition that results from mutations in the NYX gene encoding the protein nyctalopin...
- Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindnessChristina 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...
- Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria 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...
- Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX geneFelix K Jacobi
Molekulargenetisches Labor Universitäts Augenklinik, Tubingen, Germany
Graefes Arch Clin Exp Ophthalmol 240:822-8. 2002To 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.
- Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindnessR 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.
- Structural macromolecules and supramolecular organisation of the vitreous gelP 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....
- Blue-on-yellow perimetry in the complete type of congenital stationary night blindnessH Terasaki
Department of Ophthalmology, Nagoya University School of Medicine, Japan
Invest Ophthalmol Vis Sci 40:2761-4. 1999To 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).
- Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindnessKeith Bradshaw
Ophthalmology Department, Addenbrooke s Hospital, Hills Road, Cambridge, UK
Doc Ophthalmol 107:155-64. 2003STRs and dark-adapted ERGs were recorded in nine normal subjects, nine patients with XLRS, 11 patients with CSNB1 and one patient with CSNB2...
- 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-p11.2O 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)...
- Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosomeS 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...
- Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindnessRonald G Gregg
Department of Biochemistry and Molecular Biology, University of Louisville, KY 40202, USA
J Neurophysiol 98:3023-33. 2007Mutations in the NYX gene that encodes the protein nyctalopin cause congenital stationary night blindness type 1...
- Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX geneH P Scholl
Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital Tubingen, Germany
Invest Ophthalmol Vis Sci 42:2728-36. 2001To 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.
- TRPM1 mutations are associated with the complete form of congenital stationary night blindnessMakoto 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)...
- 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...
- Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian familyC 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...
- Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogramChristina 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...
- Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chickN 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..ortholog of nyctalopin (NYX), the gene responsible for X-linked complete congenital stationary night blindness (CSNB1, also known as cCSNB). Chick Nyx (cNyx) comprises four exons spanning approximately 6...
- Genotyping microarray for CSNB-associated genesChristina 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....
- Congenital stationary night blindness: report of an autosomal recessive family and linkage analysisMarc 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...
- A potential spontaneous rat model of X-linked congenital stationary night blindnessZuoming 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)...
- Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng 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...
- Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathyKeith 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...
- Differential adherence of osteoarthritis and rheumatoid arthritis synovial fibroblasts to cartilage and bone matrix proteins and its implication for osteoarthritis pathogenesisJ 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...
- Retrospective evaluation of 131I deposition density and thyroid dose in Poland after the Chernobyl accidentZofia 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...
- Molecular characterization and cellular localization of TpLRR, a processed leucine-rich repeat protein of Treponema pallidum, the syphilis spirocheteD 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...
- The C-terminal tail of Yersinia pseudotuberculosis YopM is critical for interacting with RSK1 and for virulenceMelissa 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...
- Complement inhibitor C4b-binding protein interacts directly with small glycoproteins of the extracellular matrixKaisa E Happonen
Department of Laboratory Medicine, Wallenberg Laboratory, University Hospital Malmo, Lund University, Malmo, Sweden
J Immunol 182:1518-25. 2009....
- FBXL16 is a novel E2F1-regulated gene commonly upregulated in p16INK4A- and p14ARF-silenced HeLa cellsKazuyuki 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...
- The CRL2LRR-1 ubiquitin ligase regulates cell cycle progression during C. elegans developmentJorge 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...
- An evolutionarily conserved leucine-rich repeat protein CLERC is a centrosomal protein required for spindle pole integrityYoshinori 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...
- A molecular platform in neurons regulates inflammation after spinal cord injuryJuan 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...
- Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoosporesReena 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...
- Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigenMohammad Alimohammadi
University Hospital, Uppsala University, Uppsala, Sweden
N Engl J Med 358:1018-28. 2008....
- TLRR (lrrc67) interacts with PP1 and is associated with a cytoskeletal complex in the testisRong 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....
- A leucine-rich repeat protein is required for growth promotion and enhanced seed production mediated by the endophytic fungus Piriformospora indica in Arabidopsis thalianaBationa 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...
- Neuronal leucine-rich repeat protein-3 amplifies MAPK activation by epidermal growth factor through a carboxyl-terminal region containing endocytosis motifsKatsumi 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...
- A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendritesJillian N Pearring
Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky 40202, USA
J Neurosci 31:10060-6. 2011..Biochemical and genetic data indicate that nyctalopin and TRPM1 interact directly, suggesting that nyctalopin is acting as an accessory TRP channel subunit critical for proper channel localization to the synapse...
- PH domain leucine-rich repeat protein phosphatase 1 contributes to maintain the activation of the PI3K/Akt pro-survival pathway in Huntington's disease striatumA 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...
- The Anp32 family of proteins containing leucine-rich repeatsAntoni Matilla
Institute of Child Health, University College London, London, UK
Cerebellum 4:7-18. 2005....
- Thioredoxin h5 is required for victorin sensitivity mediated by a CC-NBS-LRR gene in ArabidopsisTeresa 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...
- Tannerella forsythia-induced alveolar bone loss in mice involves leucine-rich-repeat BspA proteinA 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...
- Benchmarking EGSnrc in the kilovoltage energy range against experimental measurements of charged particle backscatter coefficientsE 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.
- LeSTIG1, an extracellular binding partner for the pollen receptor kinases LePRK1 and LePRK2, promotes pollen tube growth in vitroWeihua 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...
- The Arabidopsis gain-of-function mutant ssi4 requires RAR1 and SGT1b differentially for defense activation and morphological alterationsFasong 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...
- 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 isoformsIsao 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...
- Nephrocan, a novel member of the small leucine-rich repeat protein family, is an inhibitor of transforming growth factor-beta signalingYoshiyuki 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...
- 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 malariaChristine 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...
- Bacterial killing by heparin-binding peptides from PRELP and thrombospondinMartin 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...
- Leucine-rich repeat protein complex activates mosquito complement in defense against Plasmodium parasitesMichael 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...
- Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendonsY 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...
- 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...
- Refractive index measurement of the mouse crystalline lens using optical coherence tomographyRanjay 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...
- AAV-mediated expression of human PRELP inhibits complement activation, choroidal neovascularization and deposition of membrane attack complex in miceM 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...
- Specification of synaptic connectivity by cell surface interactionsJoris De Wit
VIB Center for the Biology of Disease and Center for Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium
Nat Rev Neurosci 17:4. 2016..The emerging evidence suggests that the concerted actions of these proteins may critically contribute to the assembly of neural circuits. ..
- 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 ..
- Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selectionJ 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...
- 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 toxicityF 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. ..
- Fliih, the murine homologue of the Drosophila melanogaster flightless I gene: nucleotide sequence, chromosomal mapping and overlap with LlglhH 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...
- Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head postureH 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), ..
- 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...
- Artificial Recruitment of UAF1-USP Complexes by a PHLPP1-E1 Chimeric Helicase Enhances Human Papillomavirus DNA ReplicationDavid 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....
- 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 atheromaRandolph 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...
- The EGP1 gene may be a positive regulator of protein phosphatase type 1 in the growth control of Saccharomyces cerevisiaeN 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...
- Molecular recognition of human angiogenin by placental ribonuclease inhibitor--an X-ray crystallographic study at 2.0 A resolutionA 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...
- Sequence and expression of LRR47, a novel embryonic leucine rich repeat protein of DrosophilaM 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...
- NYX mutations in four families with high myopia with or without CSNB1Lin Zhou
Department of Ophthalmology, Remin Hospital of Wuhan University, Wuhan, Hubei Province, People s Republic of China Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People s Republic of China
Mol Vis 21:213-23. 2015Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia...
- Drosophila windpipe codes for a leucine-rich repeat protein expressed in the developing tracheaJanice L Huff
Department of Biological Sciences, University of Nevada Las Vegas, 4505 Maryland Parkway, Las Vegas, NV 89154 4004, USA
Mech Dev 111:173-6. 2002..wdp transcripts appear abruptly at stage 15 and are restricted to primary tracheal branches that give rise to secondary branches...
- Allergic airway inflammation by nasal inoculation of particulate matter (PM2.5) in NC/Nga miceKeiki Ogino
Department of Public Health, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
PLoS ONE 9:e92710. 2014..5 can induce airway hyperresponsiveness in mice with genetically high sensitivity to mite allergens by an inflammasome-associated mechanism and synergistic action of insoluble particulates and soluble components. ..
- Leureptin: a soluble, extracellular leucine-rich repeat protein from Manduca sexta that binds lipopolysaccharideYifei Zhu
Department of Biochemistry, Kansas State University, 141 Chalmers Hall, Manhattan, KS 66506, USA
Insect Biochem Mol Biol 40:713-22. 2010..Sequence database searches suggest similar proteins are present in other Lepidopteran species...
- Identification of a novel pathogen-induced gene encoding a leucine-rich repeat protein expressed in phloem cells of Capsicum annuumEui Hwan Jung
Laboratory of Molecular Plant Pathology, College of Life and Environmental Sciences, Korea University, Anam Dong, Sungbuk Ku, Seoul 136 701, South Korea
Biochim Biophys Acta 1676:211-22. 2004..The location characteristics and the spatio-temporal expression pattern of CALRR1 suggest that it may play a role in protecting phloem cells against biotic and abiotic stresses affecting phloem function...
- WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1)Narmadha Reddy Gangula
From the Laboratory of Cell Death and Cell Survival, Centre for DNA Fingerprinting and Diagnostics CDFD, Nampally, Hyderabad 500001, India
J Biol Chem 288:34545-54. 2013..Together, our results reveal WDR48 and USP12 as novel PHLPP1 regulators and potential suppressors of tumor cell survival. ..
- Copper-mediated controlled/"living" radical polymerization in polar solvents: insights into some relevant mechanistic aspectsTamaz Guliashvili
GE Power and Water Water and Process Technologies, 4636 Somerton Road, Trevose, PA 19053 USA, Fax 1 215 953 2361
Chemistry 18:4607-12. 2012The field of transition-metal-mediated controlled/"living" radical polymerization (CLRP) has become the subject of intense discussion regarding the mechanism of this widely-used and versatile process...
- [Roles of NLRP1 in blood diseases]Jin Yan Wu
Department of Hematology, Affiliated Hospital of Xuzhou Medical College, Xuzhou 221002, Jiangsu Province, China
Zhongguo Shi Yan Xue Ye Xue Za Zhi 22:1476-9. 2014..This review briefly summarizes the structure, activation mechanism, regulation and the role of NLRP1 in the hematopoietic system. ..
- Characterization of a novel anther-specific gene encoding a leucine-rich repeat protein in petuniaY Z Yue
Key Laboratory of Horticultural Plant Biology Ministry of Education, College of Horticulture and Forestry Sciences, Huazhong Agricultural University, Wuhan, Hubei Province, China
Genet Mol Res 13:9889-98. 2014..These results suggested that PhLRR is a novel anther-specific gene that may be essential for the early development of anthers. ..
- Autoantibody response against NALP5/MATER in primary ovarian insufficiency and in autoimmune Addison's diseaseAnnalisa Brozzetti
Department of Internal Medicine A B, S M, V M, A F, University of Perugia, 06126 Perugia, Italy Department of Medical Sciences M A, O K, Science for Life Laboratory, Uppsala University, 750 03 Uppsala, Sweden Centre of Molecular Medicine M A, A H, O K, Department of Medicine Solna, Karolinska Institutet, 171 76 Stockholm, Sweden Division of Endocrinology, Diabetology, and Metabolism R G, Department of Medical Sciences, University of Turin, 10126 Turin, Italy Department of Cardio Thoracic and Respiratory Science A D B, Endocrinology Unit, Second University of Naples, 80132 Naples, Italy and Department of Pediatrics Neonatal Intensive Care R P, V Fazzi Regional Hospital, 73100 Lecce, Italy
J Clin Endocrinol Metab 100:1941-8. 2015..Mater is an autoantigen in experimental autoimmune oophoritis...
- LRT, a tendon-specific leucine-rich repeat protein, promotes muscle-tendon targeting through its interaction with RoboBess Wayburn
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel
Development 136:3607-15. 2009..Taken together, our data suggest a novel mechanism by which muscles are targeted towards tendon cells as a result of LRT-Robo interactions. This mechanism may apply to the Robo-dependent migration of a wide variety of cell types...
- Hal Is a Bacillus anthracis heme acquisition proteinMiriam A Balderas
Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas, USA
J Bacteriol 194:5513-21. 2012..These studies advance our understanding of heme acquisition by this dangerous pathogen and justify efforts to determine the mechanistic function of this novel protein for vaccine or inhibitor development...
- The Pseudomonas syringae type III effector AvrRpm1 induces significant defenses by activating the Arabidopsis nucleotide-binding leucine-rich repeat protein RPS2Min Gab Kim
Department of Horticulture and Crop Science, Rm 306C Kottman Hall, The Ohio State University, Columbus, OH 43210, USA
Plant J 57:645-53. 2009....
- Regional hippocampal differences in AKT survival signaling across the lifespan: implications for CA1 vulnerability with agingT C Jackson
Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, FL 32610 0244, USA
Cell Death Differ 16:439-48. 2009....
- Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindnessDonald Beqollari
Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
Mol Pharmacol 76:992-7. 2009..Mutations in this gene have been implicated in the development of congenital stationary night blindness type 1 (CSNB1)...
- LRRK2 dephosphorylation increases its ubiquitinationJing Zhao
The Parkinson s Institute, 675 Almanor Ave, Sunnyvale, CA 94085, U S A
Biochem J 469:107-20. 2015Activating mutations in the leucine rich repeat protein kinase 2 (LRRK2) gene are the most common cause of inherited Parkinson's disease (PD)...
- PHLPP is a negative regulator of RAF1, which reduces colorectal cancer cell motility and prevents tumor progression in miceXin Li
Markey Cancer Center, University of Kentucky, Lexington, Kentucky
Gastroenterology 146:1301-12.e1-10. 2014..Little is known about how RAS-RAF signaling is turned off once activated. We investigated how the pH domain and leucine-rich repeat protein phosphatases (PHLPPs) control RAS-RAF signaling and colorectal cancer (CRC) development...
- Cloning and characterization of r3b; members of the r3 superfamily of late blight resistance genes show sequence and functional divergenceGuangcun Li
key Laboratory of Corp Genetic Improvement and Biotechnology, Shandong Province, Shandong Academy of Agricultural Sciences, Jinan 250100, P R China
Mol Plant Microbe Interact 24:1132-42. 2011..In addition to the Rpi-mcd1/Rpi-blb3 locus on chromosome IV, the R3 locus on chromosome XI is the second example of an R-gene cluster with multiple genes recognizing different races of P. infestans...
- Neuronal expression of F-box and leucine-rich-repeat protein 2 decreases over Braak stages in the brains of Alzheimer's disease patientsTomomichi Watanabe
CNS Drug Discovery Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
Neurodegener Dis 11:1-12. 2013....
- Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada diseaseYukihiro Horie
Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Jpn J Ophthalmol 55:57-61. 2011..In this study, genetic associations between VKH disease and single-nucleotide polymorphisms (SNPs) surrounding the NLRP1 gene were investigated...
- F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivoSebastian Spaich
Department of Internal Medicine III, University of Heidelberg, Heidelberg, Germany
Circ Res 111:1504-16. 2012..The emerging role of the ubiquitin-proteasome system in cardiomyocyte function and homeostasis implies the necessity of tight regulation of protein degradation. However, little is known about cardiac components of this machinery...
- PRELP (proline/arginine-rich end leucine-rich repeat protein) promotes osteoblastic differentiation of preosteoblastic MC3T3-E1 cells by regulating the β-catenin pathwayHaiying Li
School of Medicine and Life Sciences, University of Jinan Shandong Academy of Medical Science, Ji Nan, Shandong, China Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji Nan, Shandong, China
Biochem Biophys Res Commun 470:558-62. 2016..Therefore, this study established a new role of PRELP in modulating β-catenin/connexin43 pathway and osteoblast differentiation. ..
- Incipient stem cell niche conversion in tissue culture: using a systems approach to probe early events in WUSCHEL-dependent conversion of lateral root primordia into shoot meristemsSteven P Chatfield
Department of Cell and Systems Biology, University of Toronto, 25 Harbord Street, Toronto, ON M5S 3G5, Canada
Plant J 73:798-813. 2013..Cytokinin treatment induces the expression of the shoot meristematic gene WUSCHEL (WUS) in converting LRP (cLRP) within 24-30 h, and WUS is required for LRP → SM conversion...
- Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephalyTsuyoshi Fukuda
Laboratory of Developmental Genetics, Center for Experimental Medicine and Systems Biology, Institute of Medical Science, University of Tokyo, 4 6 1, Shirokanedai, Minato ku, Tokyo, Japan
Mol Cell Neurosci 46:614-24. 2011..5 brain. Our findings suggest that the Fbxl10 gene makes important contributions to embryonic neural development by regulating cell proliferation and cell death in mice...
- miR-190-mediated downregulation of PHLPP contributes to arsenic-induced Akt activation and carcinogenesisKevin Beezhold
The Health Effects Laboratory Division, National Institute for Occupational Safety and Health, Morgantown, West Virginia 26505, USA
Toxicol Sci 123:411-20. 2011..Accordingly, the data presented suggest that induction of miR-190 is one of the key mechanisms in As(3+)-induced carcinogenesis...
- Discovery of small molecule inhibitors of the PH domain leucine-rich repeat protein phosphatase (PHLPP) by chemical and virtual screeningEmma Sierecki
Department of Pharmacology, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093
J Med Chem 53:6899-911. 2010..Thus, chemical and virtual screening has resulted in the identification of small molecules that promote Akt signaling by inhibiting its negative regulator PHLPP...
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz
Unité Mixte de Recherche S968, Institut National de la Sante et de la Recherche Medicale, F 75012 Paris, France
Am J Hum Genet 92:67-75. 2013..The mode of inheritance of this form can be X-linked or autosomal recessive, and the dysfunction of four genes (NYX, GRM6, TRPM1, and GPR179) has been described so far...
- Proline/arginine-rich end leucine-rich repeat protein converts stem cells to ligament tissue and Zn(II) influences its nuclear expressionMichiyo Tsuru
Department of Orthopaedic Surgery, School of Medicine, Kurume University, Kurume, Japan
Stem Cells Dev 22:2057-70. 2013..This important finding may lead to treatments for gonarthrosis, cruciate ligament, and periodontal ligament ruptures, and ossification of the posterior longitudinal ligament. ..
- Mouse Model of DBC DysfunctionNeal 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...
- Ganglion Cell Function in Retinal DiseaseMaureen A McCall; Fiscal Year: 2013..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 ..
- ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENESRonald G Gregg; Fiscal Year: 2013..Mutations in GRM6, NYX, TRPM1 and GPR179 cause cCSNB. The mechanism by which mGluR6 signals TRPM1 is largely unknown...
- Mechanisms for regulation of cell adhesion and migrationJulie L Kadrmas; Fiscal Year: 2013..abstract_text> ..
- The Role of FBXL4 in T-cell Acute Lymphoblastic LeukemiaJULIE ERIKA M HAYDU; Fiscal Year: 2013..Overall, these studies will characterize the roles and mechanisms of FBXL4 in the pathogenesis of T-ALL. ..
- LRIG Proteins in mammary gland development and carcinogenesisCOLLEEN ANN SWEENEY; Fiscal Year: 2013..In Aim 2, we will examine the role of Lrig1 in crosstalk between the estrogen receptor-a and ErbB2 with implications for endocrine resistance. ..
- Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein PhosphataseAlexandra C Newton; Fiscal Year: 2013..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. ..
- LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTSYongwon Choi; Fiscal Year: 2009....
- Zebrafish Mutant Mapping FacilityRonald Gregg; Fiscal Year: 2007..unreadable] [unreadable]..
- Genetic Control of Schwann Cell DifferentiationJOHN 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. ..
- Oral spirochetes: molecular genetic analysisAshu 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. ..
- MOLECULAR GENETIC ANALYSIS OF S. MUTANS CARIOGENICITYAshu 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. ..
- PROTEIN KINASE C AND PHOTORECEPTORSALEXANDRA NEWTON; Fiscal Year: 2002..Specifically, the effect of this phosphorylation on rhodopsin s macromolecular interactions (transducin coupling, arrestin binding) will be explored. ..
- The role of nyctalopin in the mammalian retinaCATHERINE MORGANS; Fiscal Year: 2006unreadable] DESCRIPTION (provided by applicant): Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary disease caused by a block in synaptic transmission in the retina between photoreceptors and ON-bipolar ..
- Calcium channels at ribbon synapses in the retinaCATHERINE 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. ..