rhodopsin

Summary

Gene Symbol: rhodopsin
Description: rhodopsin
Alias: CSNBAD1, OPN2, RP4, opsin 2, rod pigment, opsin-2
Species: human

Top Publications

  1. ncbi Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
    Hugo F Mendes
    Division of Pathology, Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    Trends Mol Med 11:177-85. 2005
  2. ncbi Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
    V R Rao
    Graduate Department of Biochemistry, Brandeis University, Waltham, Massachusetts 02254
    Nature 367:639-42. 1994
  3. doi Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations
    Elizabeth P Rakoczy
    University of Western Australia, Crawley, Western Australia, Australia
    J Mol Biol 405:584-606. 2011
  4. pmc SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods
    Jen Zen Chuang
    Margaret M Dyson Vision Research Institute, Department of Ophthalmology, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA
    Cell 130:535-47. 2007
  5. ncbi Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin
    J R Heckenlively
    Jules Stein Eye Institute, UCLA School of Medicine 90024
    Arch Ophthalmol 109:84-91. 1991
  6. pmc Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes
    Jen Zen Chuang
    Department of Ophthalmology, The Margaret M Dyson Research Institute, New York, NY 10021, USA
    J Clin Invest 114:131-40. 2004
  7. doi Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Invest Ophthalmol Vis Sci 49:4105-14. 2008
  8. ncbi A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease
    L J Sullivan
    Department of Ophthalmology, University of Melbourne, Australia
    Arch Ophthalmol 111:1512-7. 1993
  9. pmc Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin
    Darwin Toledo
    Centre de Biotecnologia Molecular, Departament d Enginyeria Quimica, Universitat Politecnica de Catalunya, 08222 Terrassa, Spain
    J Biol Chem 286:39993-40001. 2011
  10. pmc A dual role for EDEM1 in the processing of rod opsin
    Maria Kosmaoglou
    UCL Institute of Ophthalmology, London, UK
    J Cell Sci 122:4465-72. 2009

Research Grants

  1. SIGNALING THROUGH RHO GTP/GDP EXCHANGE FACTORS
    Philip B Wedegaertner; Fiscal Year: 2013
  2. Akt-regulated pathways in platelet function
    Donna S Woulfe; Fiscal Year: 2011
  3. Development of small molecule Limk inhibitors for probing ocular diseases
    Philip LoGrasso; Fiscal Year: 2012
  4. Osteoclastic Protein-Tyrosine Phosphatase and Resorption
    Kin Hing William Lau; Fiscal Year: 2013
  5. STRUCTURE AND FUNCTION OF PAXILLIN
    Christopher E Turner; Fiscal Year: 2012
  6. MECHANISM OF RETROCORNEAL FIBROUS MEMBRANE
    EunDuck P Kay; Fiscal Year: 2010
  7. Rho Kinase and Airway Hyperresponsiveness
    Stephanie A Shore; Fiscal Year: 2013
  8. The use of patient-specific iPS cells to identify osteoclast defects in CMD
    I Ping Chen; Fiscal Year: 2011
  9. Lipid Signaling in Chemotaxis
    Miho Iijima; Fiscal Year: 2013
  10. Planar Cell Polarity and the Cytoskeleton
    Andreas Jenny; Fiscal Year: 2013

Detail Information

Publications242 found, 100 shown here

  1. ncbi Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
    Hugo F Mendes
    Division of Pathology, Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    Trends Mol Med 11:177-85. 2005
    ..Mutations in rhodopsin are the most common cause of autosomal-dominant RP (ADRP)...
  2. ncbi Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
    V R Rao
    Graduate Department of Biochemistry, Brandeis University, Waltham, Massachusetts 02254
    Nature 367:639-42. 1994
    Mutations in the gene for the visual pigment rhodopsin cause retinitis pigmentosa (RP) and congenital night blindness...
  3. doi Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations
    Elizabeth P Rakoczy
    University of Western Australia, Crawley, Western Australia, Australia
    J Mol Biol 405:584-606. 2011
    ..A total of 103 mutations in rhodopsin are linked to RP to date, and the phenotypes range from severe to asymptomatic...
  4. pmc SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods
    Jen Zen Chuang
    Margaret M Dyson Vision Research Institute, Department of Ophthalmology, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA
    Cell 130:535-47. 2007
    ..cilium containing approximately 1,000 stacked disc membranes that are densely packed with visual pigment rhodopsin. The mammalian OS is renewed every ten days; new discs are assembled at the base of the OS by a poorly ..
  5. ncbi Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin
    J R Heckenlively
    Jules Stein Eye Institute, UCLA School of Medicine 90024
    Arch Ophthalmol 109:84-91. 1991
    A cytosine-to-adenine transversion in codon 23 of rhodopsin, the rod visual pigment gene, was reported recently by Dryja et al in 17 of 148 unrelated patients with autosomal dominant retinitis pigmentosa, but the clinical findings ..
  6. pmc Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes
    Jen Zen Chuang
    Department of Ophthalmology, The Margaret M Dyson Research Institute, New York, NY 10021, USA
    J Clin Invest 114:131-40. 2004
    ..Mutations at Arg135 of rhodopsin are associated with a severe form of autosomal dominant RP...
  7. doi Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Invest Ophthalmol Vis Sci 49:4105-14. 2008
    ..The study was conducted to identify the genetic defect in a large Swiss family affected with adCSNB and to investigate the pathogenic mechanism of the mutation...
  8. ncbi A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease
    L J Sullivan
    Department of Ophthalmology, University of Melbourne, Australia
    Arch Ophthalmol 111:1512-7. 1993
    To ascertain and characterize rhodopsin gene mutations in autosomal dominant retinitis pigmentosa and to correlate these mutations with the clinical phenotypes.
  9. pmc Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin
    Darwin Toledo
    Centre de Biotecnologia Molecular, Departament d Enginyeria Quimica, Universitat Politecnica de Catalunya, 08222 Terrassa, Spain
    J Biol Chem 286:39993-40001. 2011
    Two different mutations at Gly-90 in the second transmembrane helix of the photoreceptor protein rhodopsin have been proposed to lead to different phenotypes...
  10. pmc A dual role for EDEM1 in the processing of rod opsin
    Maria Kosmaoglou
    UCL Institute of Ophthalmology, London, UK
    J Cell Sci 122:4465-72. 2009
    ....
  11. ncbi Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    T P Dryja
    Howe Laboratory of Ophthalmology, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    N Engl J Med 323:1302-7. 1990
    Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment.
  12. ncbi Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    T P Dryja
    Berman Gund Laboratory, Harvard Medical School, Boston, Massachusetts 02114
    Nat Genet 4:280-3. 1993
    A number of mutations in the rhodopsin gene have been shown to cause both dominant and recessive retinitis pigmentosa. Here we describe another phenotype associated with a defect in this gene...
  13. ncbi Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa
    G Antinolo
    Unidad de Genética Médica, Hospital Universitario Virgen del Rocio, Sevilla, Spain
    Hum Mol Genet 3:1421. 1994
  14. ncbi Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation
    K T Oh
    Department of Opthamology and Visual Science, University of Iowa Hospitals and Clinics, Iowa City, USA
    Arch Ophthalmol 118:1269-76. 2000
    ..autosomal dominant retinitis pigmentosa caused by a proline-to-alanine mutation at codon 23 (Pro23Ala) of the rhodopsin gene and to compare this phenotype with that associated with the more common proline-to-histidine mutation at ..
  15. ncbi A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    T P Dryja
    Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Nature 343:364-6. 1990
    ..As the gene coding for rhodopsin is also assigned to the long arm of chromosome 3 and is expressed in rod photoreceptors that are affected early ..
  16. ncbi A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness
    N al-Jandal
    Wellcome Ocular Genetics Unit, Trinity College, Dublin, Ireland
    Hum Mutat 13:75-81. 1999
    More than 100 mutations within the rhodopsin gene have been found to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that ..
  17. doi Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa
    Shiqiang Li
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Biochem Biophys Res Commun 401:42-7. 2010
    Mutations in the rhodopsin gene (RHO) are suggested to be the most common cause of autosomal dominant retinitis pigmentosa (RP)...
  18. ncbi Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa
    G A Fishman
    Department of Ophthalmology, University of Illinois, Chicago 60612
    Arch Ophthalmol 110:646-53. 1992
    ..family were found to have a guanine-to-adenine transition mutation in the first nucleotide of codon 106 in the rhodopsin gene that results in a glycine-to-arginine change...
  19. ncbi Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)
    K Fujiki
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Jpn J Hum Genet 37:125-32. 1992
    The mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP)...
  20. pmc Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa
    Kwang Joong Kim
    Center for Genome Science, National Institute of Health, Chungcheongbuk Do, Korea
    Mol Vis 17:844-53. 2011
    To determine the spectrum and frequency of rhodopsin gene (RHO) mutations in Korean patients with retinitis pigmentosa (RP) and to characterize genotype-phenotype correlations in patients with mutations.
  21. ncbi Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa
    C Reig
    Secció de Genética del Hospital Sant Joan de Déu, Barcelona, Spain
    Hum Genet 94:283-6. 1994
    ..Approximately 30% of ADRP patients show point mutations or small deletions in the rhodopsin gene. However, over 50% of the RP patients are simplex cases (sporadic)...
  22. doi Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa
    King Poo Lim
    Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong, China
    Arch Ophthalmol 127:784-90. 2009
    ..To screen mutations in the PRPF31, RHO, and PRPH2 genes in Chinese patients with retinitis pigmentosa (RP)...
  23. ncbi A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment
    C H Sung
    Department of Molecular Biology and Genetics, Johns Hopkins Medical School, Baltimore, Maryland 21205
    J Neurosci 14:5818-33. 1994
    Over 45 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa, including a cluster near the extreme carboxy-terminus, a region of the protein for which no function has yet been ..
  24. ncbi Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa
    J E Olsson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Neuron 9:815-30. 1992
    ..a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene...
  25. pmc IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA
    Sarah E Mortimer
    Department of Biochemistry, Brandeis University, Waltham, Massachusetts 02454 9110, USA
    J Biol Chem 283:36354-60. 2008
    ..Finally, we find that IMPDH1 is associated with polyribosomes containing rhodopsin mRNA...
  26. pmc A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
    C F Inglehearn
    Department of Human Genetics, University of Newcastle upon Tyne, England
    Am J Hum Genet 48:26-30. 1991
    ..The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q...
  27. ncbi Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family
    G J Farrar
    Department of Genetics, Trinity College Dublin, Ireland
    Hum Mol Genet 1:769-71. 1992
  28. ncbi Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin
    H Kranich
    Institut fur Humangenetik, Medizinische Universitat, Lubeck, Germany
    Hum Mol Genet 2:813-4. 1993
  29. ncbi Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site
    T J Keen
    Molecular Genetics Unit, Department of Human Genetics, Newcastle upon Tyne, United Kingdom
    Genomics 11:199-205. 1991
    Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described...
  30. doi Clearance of Rhodopsin(P23H) aggregates requires the ERAD effector VCP
    Ana Griciuc
    Department of Protein Science, Helmholtz Zentrum Muenchen German Research Center for Environmental Health GmbH, 85764 Neuherberg, Germany
    Biochim Biophys Acta 1803:424-34. 2010
    Dominant mutations in the visual pigment Rhodopsin (Rh) cause retinitis pigmentosa (RP) characterized by progressive blindness and retinal degeneration...
  31. ncbi Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa
    Anna Andrés
    Unitat de Biofisica, Departament de Bioquimica i de Biologia Molecular, Universitat Autonoma de Barcelona, 08193 Bellaterra, Catalonia, Spain
    Biochem Biophys Res Commun 303:294-301. 2003
    Point mutations found in rhodopsin associated with the retinal degenerative disease retinitis pigmentosa have been expressed in mammalian COS-1 cells, purified, and characterised...
  32. ncbi Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis
    Xiao L Zhang
    Center for Molecular Diagnosis and Gene Therapy, Affiliated South West Hospital, Third Military Medical University, Chongqing, PR China
    Life Sci 78:1494-8. 2006
    ..For autosomal dominant retinitis pigmentosa (ADRP), the most common gene is the rhodopsin (RHO) gene, mutations in which contribute to about 25% of ADRP in Caucasian population...
  33. ncbi Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
    C H Sung
    Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    J Biol Chem 268:26645-9. 1993
    Over 40 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa...
  34. ncbi Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations
    S G Jacobson
    Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, FL 33101
    Am J Ophthalmol 112:256-71. 1991
    ..autosomal dominant retinitis pigmentosa, who represented five different point mutations in the gene encoding rhodopsin. In a family with a stop codon mutation at the carboxyl end of the molecule (glutamine-344), young members with ..
  35. pmc Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
    T P Dryja
    Howe Laboratory of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston
    Proc Natl Acad Sci U S A 88:9370-4. 1991
    We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa...
  36. ncbi The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation
    J Paul Chapple
    Division of Pathology, Institute of Ophthalmology, University College of London, London EC1V 9EL, United Kingdom
    J Biol Chem 278:19087-94. 2003
    ..Because of their enrichment at the site of rhodopsin production, we investigated the effect of HSJ1 isoforms on the cellular processing of wild-type and mutant ..
  37. pmc Rhodopsin mutations in autosomal dominant retinitis pigmentosa
    C H Sung
    Howard Hughes Medical Institute, Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Proc Natl Acad Sci U S A 88:6481-5. 1991
    ..161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis...
  38. ncbi A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
    Michelle E Illing
    Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA
    J Biol Chem 277:34150-60. 2002
    ..30-40% of human autosomal dominant (AD) RP is caused by dominantly inherited missense mutations in the rhodopsin gene...
  39. pmc Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India
    Mamatha Gandra
    Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya Chennai, India
    Mol Vis 14:1105-13. 2008
    To screen for possible disease-causing mutations in rhodopsin (RHO), pre-mRNA processing factor 31 (PRPF31), retinitis pigmentosa 1 (RP1), and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and ..
  40. pmc Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis
    V C Sheffield
    Department of Pediatrics, University of Iowa, Iowa City
    Am J Hum Genet 49:699-706. 1991
    ..of RP has been the recognition that some cases of autosomal dominant RP (ADRP) are caused by mutations in the rhodopsin gene...
  41. pmc Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
    Yuichiro Ando
    Department of Rehabilitation Engineering, Research Institute, National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Saitama, Japan
    Mol Vis 13:1038-44. 2007
    To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP.
  42. pmc A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
    Maleeha Azam
    Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan
    Mol Vis 15:2526-34. 2009
    ..To identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families...
  43. ncbi Missense rhodopsin mutation in a family with recessive RP
    G Kumaramanickavel
    Nat Genet 8:10-1. 1994
  44. ncbi Rhodopsin mutations in autosomal dominant retinitis pigmentosa
    M Al-Maghtheh
    Department of Molecular Genetics, University of London, England
    Hum Mutat 2:249-55. 1993
    ..cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade...
  45. pmc Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients
    Isabelle Audo
    INSERM, U968, Paris, France
    Invest Ophthalmol Vis Sci 51:3687-700. 2010
    PURPOSE. To identify the prevalence of rhodopsin (RHO) mutations in French patients with autosomal dominant rod-cone dystrophies (adRPs). Methods...
  46. pmc Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation
    P A Sieving
    Department of Ophthalmology, University of Michigan, Ann Arbor 48105
    Proc Natl Acad Sci U S A 92:880-4. 1995
    A human rhodopsin mutation, Gly-90-->Asp (Gly90Asp), cosegregated with an unusual trait of congenital nightblindness in 22 at-risk members of a large autosomal dominant kindred...
  47. doi Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa
    Haike Guo
    Department of Ophthalmology, Guangdong Eye Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong, PR China
    J Hum Genet 55:571-6. 2010
    Autosomal dominant retinitis pigmentosa (adRP) is a common form of RP worldwide. Although rhodopsin (RHO) is the most frequently reported adRP gene in many populations, it has not been detected in patients from the Bai nationality, one ..
  48. pmc Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin
    J P Macke
    Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Am J Hum Genet 53:80-9. 1993
    Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects with congenital stationary night blindness...
  49. pmc Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal
    Syed M Noorwez
    Department of Ophthalmology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
    J Biol Chem 284:33333-42. 2009
    ..Mutations of rhodopsin, the glycoprotein pigment of rod photoreceptors, cause misfolding resulting in retinitis pigmentosa...
  50. ncbi Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa
    Rahul S Rajan
    Departments of Chemistry and Biological Sciences, Stanford University, Stanford, California 94305 5430, USA
    J Biol Chem 280:1284-91. 2005
    Autosomal dominant retinitis pigmentosa (ADRP) has been linked to mutations in the gene encoding rhodopsin. Most RP-linked rhodopsin mutants are unable to fold correctly in the endoplasmic reticulum, are degraded by the ubiquitin ..
  51. ncbi A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa
    R Y Y Yong
    Centre for Biomedical Sciences, Defence Medical and Enviromental Research Institute, DSO National Laboratories, Singapore
    Ann Acad Med Singapore 34:94-9. 2005
    ..Using a two-stage approach by combining linkage analysis with mutation detection, we have rapidly identified the gene locus and the mutation site of a Chinese Singaporean family with autosomal dominant RP...
  52. pmc Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N
    Irena Tsui
    Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, California, USA
    Curr Eye Res 33:1014-22. 2008
    ..To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families...
  53. ncbi Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes
    John Neidhardt
    University of Zurich, Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 47:1630-5. 2006
    Identification of a novel rhodopsin mutation in a family with retinitis pigmentosa and comparison of the clinical phenotype to a known mutation at the same amino acid position.
  54. ncbi Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients
    M Dikshit
    Division of Biochemistry, Department of Chemistry, University of Pune, Pune 411 007, India
    J Genet 80:111-6. 2001
    More than 100 mutations have been reported till date in the rhodopsin gene in patients with retinitis pigmentosa...
  55. pmc Isolation and nucleotide sequence of the gene encoding human rhodopsin
    J Nathans
    Proc Natl Acad Sci U S A 81:4851-5. 1984
    We have isolated and completely sequenced the gene encoding human rhodopsin. The coding region of the human rhodopsin gene is interrupted by four introns, which are located at positions analogous to those found in the previously ..
  56. ncbi A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa
    Xiao Li Zhang
    Clinical Laboratory Center, Affiliated South West Hospital, Third Military Medical University, Chongqing 400038
    Chin Med Sci J 20:30-4. 2005
    To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA ..
  57. ncbi Knockdown of wild-type mouse rhodopsin using an AAV vectored ribozyme as part of an RNA replacement approach
    M S Gorbatyuk
    Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA
    Mol Vis 11:648-56. 2005
    To develop a hammerhead ribozymes (Rz) that might be exploited in a "digest and replace" gene therapy strategy for autosomal dominant retinitis pigmentosa (ADRP) caused by mutations in the gene for rhodopsin (RHO).
  58. ncbi Modulating angiotensin II-induced inflammation by HMG Co-A reductase inhibition
    R Dechend
    , , Humboldt University of Berlin, Germany
    Am J Hypertens 14:55S-61S. 2001
    ..These data may in part explain cholesterol-independent, HMG-CoA reductase-related, protective effects...
  59. ncbi Vaginal topography does not correlate well with visceral position in women with pelvic organ prolapse
    K Kenton
    Rush Medical College, Chicago, IL 60612-3873, USA
    Int Urogynecol J Pelvic Floor Dysfunct 8:336-9. 1997
    ..67 and rho = 0.55, respectively). It was concluded that vaginal topography does not reliably predict the position of the associated viscera on PFF in women with primary or recurrent pelvic organ prolapse...
  60. ncbi Cloning and analysis of YMR26, the nuclear gene for a mitochondrial ribosomal protein in Saccharomyces cerevisiae
    W Kang
    Graduate School of Science and Technology, Faculty of Science, Kobe University, Japan
    Mol Gen Genet 225:474-82. 1991
    ..However, in rho o cells, its transcription appeared not to be repressed even by high concentrations of glucose. The amount of the YMR26 mRNA was increased 10-fold when cells carried the YMR26 gene on a high-copy number plasmid...
  61. ncbi Caffeine consumption in hospitalized psychiatric patients
    M Rihs
    Unite de Biochimie et Psychopharmacologie Clinique, Departement universitaire de psychiatrie adulte, Lausanne, Switzerland
    Eur Arch Psychiatry Clin Neurosci 246:83-92. 1996
    ..Our data suggest that inquiry into caffeine consumption should be included routinely for psychiatric patients, e.g. at admission, because patients with a psychotic disorder undergo a higher risk for an excessive caffeine consumption...
  62. ncbi Cocaine elicits action potential bursts in a central snail neuron: the role of delayed rectifying K+ current
    Y H Chen
    Department of Nursing, Yuan Pei University of Science and Technology, No 306, Yuan Pei Road, Hsinchu, Taiwan
    Neuroscience 138:257-80. 2006
    The effects of cocaine were studied in an identifiable RP4 neuron of the African snail, Achatina fulica Ferussac, using the two-electrode voltage-clamp method...
  63. ncbi Atrial natriuretic peptide (ANP) in chronic obstructive pulmonary disease (COPD): the relationship between plasma ANP and lung function. Effects of exercise and of the calcium antagonist, isradipine, on plasma ANP. A randomised, double-blind, placebo-cont
    N Graudal
    Department of Pulmonary Medicine P/Chest Clinic, Bispebjerg Hospital, Copenhagen, Denmark
    Horm Metab Res 24:130-3. 1992
    ..Plasma ANP increases during exercise. The calcium antagonist, isradipine, does not alter resting levels or exercise induced levels of plasma ANP...
  64. ncbi Growth factor receptor expression during in vitro differentiation of partially purified populations containing murine stem cells
    E Ashihara
    Laboratory of Hematopoietic Growth Factors, Lindsley F Kimball Research Institute, New York Blood Center, New York 10021, USA
    J Cell Physiol 171:343-56. 1997
    ..Therefore, activation of the expression of the Epo receptor gene and activation of the erythroid differentiation program are two independent events in normal hematopoiesis...
  65. ncbi Lovastatin reduces renal vascular reactivity in spontaneously hypertensive rats
    J Jiang
    Department of Physiology, Medical College of Wisconsin, Milwaukee 53226, USA
    Am J Hypertens 11:1222-31. 1998
    ....
  66. pmc Pharmacology of GABA rho 1 and GABA alpha/beta receptors expressed in Xenopus oocytes and COS cells
    T Kusama
    Molecular Neurobiology, Addiction Research Center, National Institute on Drug Abuse, Baltimore, Maryland 21224
    Br J Pharmacol 109:200-6. 1993
    ..Thus,the rho l receptor displayed higher cooperativity.8. Unlike typical GABAA receptors, the rho l receptor was insensitive to the competitive antagonists bicuculline, SR95531, securinine, and (+)-tubocurarine...
  67. ncbi Depressive disorder as possible risk factor of osteoporosis
    M Vrkljan
    Division of Endocrinology, Diabetes and Metabolic Diseases, University Hospital Sestre Milosrdnice, Zagreb, Croatia
    Coll Antropol 25:485-92. 2001
    ..01 level (2-tailed). Patients under long-term history of depression could develop a very stronger type of osteoporosis i.e. it is before known that the patients with untreated Cushing syndrome developed hard osteoporosis...
  68. ncbi The mcGill-Melzack Pain Questionnaire in the diagnosis of headache
    R A Allen
    Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA
    Headache 22:20-9. 1982
    ..05) suggesting that the MMPQ is of value in headache diagnosis. Differences between electromyographic studies and headache pain report are discussed as well as suggestions concerning modification of the MMPQ for headache assessment...
  69. ncbi Measurement of thoracic and lumbar fracture kyphosis: evaluation of intraobserver, interobserver, and technique variability
    T R Kuklo
    Orthopaedic Surgery Service, Walter Reed Army Medical Center, Washington, DC 20307, USA
    Spine (Phila Pa 1976) 26:61-5; discussion 66. 2001
    ....
  70. ncbi Differentiation between renovascular and essential hypertension by means of changes in single kidney 99mTc-DTPA clearance induced by angiotensin-converting enzyme inhibition
    E B Pedersen
    Department of Medicine C, Aarhus Kommunehospital, Denmark
    Am J Hypertens 2:323-34. 1989
    ....
  71. ncbi Modulation of aqueous humor outflow facility by the Rho kinase-specific inhibitor Y-27632
    P V Rao
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina7710, USA
    Invest Ophthalmol Vis Sci 42:1029-37. 2001
    ..Rho kinase, a critical downstream effector of Rho GTPase is recognized to control the formation of actin stress fibers, focal adhesions, and cellular contraction...
  72. ncbi Rho kinase inhibitor improves motor dysfunction and hypoalgesia in a rat model of lumbar spinal canal stenosis
    Toshinori Ito
    Department of Orthopedic Surgery, Graduate School of Medicine, Chiba University, Chiba, Japan
    Spine (Phila Pa 1976) 32:2070-5. 2007
    ..Immunohistochemical and behavioral study using a rat cauda equina compression model...
  73. ncbi [Effects of fasudil on the expression of Rho kinase-1 and airway inflammation in a mouse model of asthma.]
    Feng Qin Wu
    Department of Respiratory Medicine, Affiliated Hospital of Xuzhou Medical College, Xuzhou 221002, China
    Zhonghua Jie He He Hu Xi Za Zhi 32:847-9. 2009
    ..To explore the role of Rho kinase-1 (ROCK-1) in airway inflammation of asthma by observing the effects of fasudil, a specific inhibitor of ROCK-1, on the expression of Rho kinase-1 and airway inflammation in a mouse model of asthma...
  74. ncbi Risk factors for asthma in adult twins
    Simon Francis Thomsen
    Department of Respiratory Medicine Bispebjerg University Hospital Copenhagen, Denmark
    Clin Respir J 1:128-9. 2007
    ..Finally, asthma and posSPT, and rhinitis and posSPT show similar environmental architectures. These results provide new insights into the aetiology of asthma and may be used to guide the choice of traits for genetic linkage analysis...
  75. ncbi Cellularization in Drosophila melanogaster is disrupted by the inhibition of rho activity and the activation of Cdc42 function
    J M Crawford
    Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, 27710 7599, USA
    Dev Biol 204:151-64. 1998
    ..These embryos halt in cellularization and do not proceed to gastrulation. We conclude that Rho activity and Cdc42 regulation are required for cytoskeletal function in actomyosin-driven furrow canal formation and nuclear positioning...
  76. ncbi Pseudomonas aeruginosa exoenzyme S, a bifunctional type-III secreted cytotoxin
    J T Barbieri
    Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee 53226, USA
    Int J Med Microbiol 290:381-7. 2000
    ..aeruginosa by macrophages. Other studies indicate that Ras plays a role in T cell activation (Cantrell, 1994). Thus, ExoS may inhibit acquired immunity by inhibiting T-cell activation...
  77. ncbi Lfc and Lsc oncoproteins represent two new guanine nucleotide exchange factors for the Rho GTP-binding protein
    J A Glaven
    Department of Pharmacology, Cornell University, Ithaca, New York 14853, USA
    J Biol Chem 271:27374-81. 1996
    ..These findings raise the possibility that in addition to acting directly as a GEF for Rho, Lfc may play other roles that influence the signaling activities of Rac and/or coordinate the activities of the Rac and Rho proteins...
  78. ncbi Sleepiness in different situations measured by the Epworth Sleepiness Scale
    M W Johns
    Sleep Disorders Unit, Epworth Hospital, Melbourne, Victoria, Australia
    Sleep 17:703-10. 1994
    ..The SP in one test situation, including the MSLT, may not be a reliable indicator of a subject's average SP in daily life. Perhaps we should reexamine the current concept of daytime sleepiness and its measurement...
  79. ncbi [Differences in glycemic balance (but not weight) correlate positively with changes in absolute cardiovascular risk in diabetic patients]
    S Hadjadj
    , Centre Hospitalier Universitaire d'Angers
    Arch Mal Coeur Vaiss 93:1033-6. 2000
    ..008 and Rho = 0.019; NS, respectively). These results suggest that, in diabetic patients, changes in glycaemic control affect their CRP by an effect on total cholesterol, but the changes in body weight do not affect their CRP...
  80. ncbi Isolation and sequencing of the rho gene from Streptomyces lividans ZX7 and characterization of the RNA-dependent NTPase activity of the overexpressed protein
    C J Ingham
    Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow, G12, United Kingdom
    J Biol Chem 271:21803-7. 1996
    ....
  81. doi Analysis of pulmonary vasodilator responses to the Rho-kinase inhibitor fasudil in the anesthetized rat
    Adeleke M Badejo
    Department of Pharmacology SL83, Tulane University Health Sciences Center, 1430 Tulane Ave, New Orleans, LA 70112, USA
    Am J Physiol Lung Cell Mol Physiol 295:L828-36. 2008
    ....
  82. ncbi The insensitivity to uncouplers of testis mitochondrial ATPase
    M E Vazquez-Memije
    Sección de Regulación Metabólica, Unidad de Investigación Biomédica del Centro Médico Nacional, Mexico
    Arch Biochem Biophys 260:67-74. 1988
    ..Since testis ATPase is known to be loosely bound to the membrane, an effect of albumin, improving tightness in the interaction of the F1 and the F0 sectors of the ATPase, is suggested...
  83. ncbi Ongoing ultradian activity rhythms in the common vole, Microtus arvalis, during deprivations of food, water and rest
    M P Gerkema
    Zoological Laboratory, Groningen University, The Netherlands
    J Comp Physiol A 168:591-7. 1991
    ..The onset of the subsequent rest episodes occurred independent of the duration of the preceding alpha'. The duration of rho' was dependent on the preceding, experimental alpha' in a periodic fashion.(ABSTRACT TRUNCATED AT 250 WORDS)..
  84. ncbi Disc degeneration: a human cadaveric study correlating magnetic resonance imaging and quantitative discomanometry
    E P Southern
    Memorial Orthopaedic Surgical Group, Long Beach, California, USA
    Spine (Phila Pa 1976) 25:2171-5. 2000
    ..Quantitative discomanometry may be an important technique for evaluating early disc degeneration, especially tears of the anular fibers, which may be missed on magnetic resonance imaging...
  85. pmc Schwan equation and transmembrane potential induced by alternating electric field
    P Marszalek
    Department of Biochemistry, University of Minnesota College of Biological Sciences, St Paul 55108
    Biophys J 58:1053-8. 1990
    ..The good fit of these data to the curves calculated using the Schwan Equation indicates that the equation may be used to describe the transmembrane potential of a living cell generated by an oscillating electric field...
  86. pmc The Rhodobacter sphaeroides 2.4.1 rho gene: expression and genetic analysis of structure and function
    M Gomelsky
    Department of Microbiology and Molecular Genetics, The University of Texas Medical School at Houston, Texas 77030, USA
    J Bacteriol 178:1946-54. 1996
    ..The gene downstream of rho is homologous to thdF, whose product is involved in thiophene and furan oxidation...
  87. ncbi Altered expression and interaction of adherens junction proteins in the developing OLM of the Rho(-/-) mouse
    Matthew Campbell
    Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Ireland
    Exp Eye Res 85:714-20. 2007
    ....
  88. ncbi An assessment of the reliability of the Scoliometer
    G A Murrell
    Division of Orthopaedic Surgery, Duke University Medical Center, Durham, North Carolina
    Spine (Phila Pa 1976) 18:709-12. 1993
    ..998 for the thoracic and lumbar regions, respectively). These results indicate that the Scoliometer can be a reliable noninvasive method for repetitively assessing spinal axial rotation when used by a single trained observer...
  89. ncbi Theoretical study of hydrogen bonding interaction in nitroxyl (HNO) dimer: interrelationship of the two N-H...O blue-shifting hydrogen bonds
    Ying Liu
    Key Laboratory of Environmental Optical and Technology, Anhui Institute of Optics and Fine Mechanics, Chinese Academy of Sciences, Hefei 230031, P R China
    J Phys Chem A 110:11760-4. 2006
    ..Ranging from 2.55 to 2.85 A, the cooperative ascending tendencies of the electron densities in two sigma*(N-H) with increasing r(H...O) contribute to the decreases in blue-shift degrees of nu(N-H)...
  90. pmc Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy
    Heba E Abdelmaksoud
    Department of Ophthalmology, SUNY Upstate Medical University, Syracuse, NY 13210, USA
    Exp Eye Res 88:859-79. 2009
    ..Lead hhRz 266 CUC [see in text downward arrow] proved more efficacious than Rz525/hhRz485 which infers viability for rescue of retinal degeneration in appropriate preclinical models of disease...
  91. ncbi The novel and specific Rho-kinase inhibitor (S)-(+)-2-methyl-1-[(4-methyl-5-isoquinoline)sulfonyl]-homopiperazine as a probing molecule for Rho-kinase-involved pathway
    Yasuharu Sasaki
    Department of Pharmacology, School of Pharmaceutical Science, Kitasato University, 5 9 1 Shirokane, Minato ku, 108 8641, Tokyo, Japan
    Pharmacol Ther 93:225-32. 2002
    ..In this review, we address the possible role of Rho-kinase in neuronal functions, using the Rho-kinase specific inhibitor H-1152P...
  92. ncbi Hydrophilic statin suppresses vein graft intimal hyperplasia via endothelial cell-tropic Rho-kinase inhibition
    Dai Yamanouchi
    Department of Vascular Surgery, Nagoya University Graduate School of Medical Sciences, Nagoya University, Japan
    J Vasc Surg 42:757-64. 2005
    ..We therefore examined the effects of a hydrophilic statin on vein graft intimal hyperplasia in vivo and Rho-kinase activity in vitro...
  93. ncbi Rho/Rho kinase is a key enzyme system involved in the angiotensin II signaling pathway of liver fibrosis and steatosis
    Kumi Kitamura
    Department of Internal Medicine, School of Medicine, Keio University, Tokyo, Japan
    J Gastroenterol Hepatol 22:2022-33. 2007
    ..In this study, the involvement of the Rho/Rho kinase pathway on angiotensin II signaling in liver fibrogenesis and generation of steatosis was investigated...
  94. ncbi Oxygen activates the Rho/Rho-kinase pathway and induces RhoB and ROCK-1 expression in human and rabbit ductus arteriosus by increasing mitochondria-derived reactive oxygen species: a newly recognized mechanism for sustaining ductal constriction
    Hidemi Kajimoto
    Vascular Biology Group, Alberta Cardiovascular and Stroke Research Centre ABACUS, University of Alberta, Edmonton, Canada
    Circulation 115:1777-88. 2007
    ..Subsequent membrane depolarization and calcium influx through L-type calcium channels initiates functional closure. We hypothesize that Rho-kinase activation is an additional mechanism that sustains DA constriction...
  95. pmc Reduction of hyaluronan-CD44-mediated growth, migration, and cisplatin resistance in head and neck cancer due to inhibition of Rho kinase and PI-3 kinase signaling
    Carlos Torre
    Department of Otolaryngology Head and Neck Surgery, University of California, San Francisco, San Francisco, CA 94121, USA
    Arch Otolaryngol Head Neck Surg 136:493-501. 2010
    ....
  96. ncbi [Abnormal erythrocyte sodium transport in patients with adult polycystic kidney and hypertension]
    C Guarena
    , Italie
    Arch Mal Coeur Vaiss 86:1241-3. 1993
    ....
  97. ncbi Observer variation in assessing spinal curvature and skeletal development in adolescent idiopathic scoliosis
    M S Goldberg
    Department of Epidemiology and Biostatistics, McGill University, , Canada
    Spine (Phila Pa 1976) 13:1371-7. 1988
    ..Differences in agreement between surgeons and technicians were relatively minor. These results indicate that personnel trained at this clinic are able to assess these spinal parameters reliably...
  98. ncbi Structure and evolution of the teleost extraretinal rod-like opsin (errlo) and ocular rod opsin (rho) genes: is teleost rho a retrogene?
    James Bellingham
    Gene Targeting Unit, Department of Neuromuscular Diseases, Division of Neuroscience, Imperial College London, Charing Cross Hospital, St Dunstan s Road, London, W6 8RP, United Kingdom
    J Exp Zool B Mol Dev Evol 297:1-10. 2003
    ..of rho (which is expressed uniquely in the retina) and the closely related extraretinal rod-like opsin (exo-rhodopsin) gene, errlo (which is expressed uniquely in the pineal), in the puffer-fish, Fugu rubripes (Takifugu rubripes)...
  99. doi Complete physicochemical characterization of DNA/chitosan complexes by multiple detection using asymmetrical flow field-flow fractionation
    Pei Lian Ma
    Department of Chemical Engineering and Institute of Biomedical Engineering, Ecole Polytechnique de Montreal, P O 6079 Succursale Centre Ville, Montreal, Quebec, Canada H3C 3A7
    Anal Chem 82:9636-43. 2010
    ..This study demonstrates the ability of AF4/UV-vis/MALS+DLS to provide a complete physicochemical characterization of DNA/polycation complexes used in nonviral gene delivery...
  100. ncbi Dynamic compression of chondrocytes induces a Rho kinase-dependent reorganization of the actin cytoskeleton
    D R Haudenschild
    Division of Arthritis Research MEM161, The Scripps Research Institute, La Jolla, CA, USA
    Biorheology 45:219-28. 2008
    ..Furthermore, we show that Rho kinase activity is required for this actin reorganization and gene expression induced by dynamic compression...
  101. doi Expression of Rho GTPases Rho-A and Rac1 in the adult and developing gerbil cerebellum
    Vaea Richard
    INSERM U 929, Neurobiologie de la douleur trigeminale, Faculte de Chirurgie Dentaire, 11 Boulevard Charles de Gaulle, 63000 Clermont Ferrand, France
    Int J Dev Neurosci 26:723-32. 2008
    ..In addition Rho-A is highly expressed in granule cell progenitor cells present in the external granular layer and therefore may play an important role in granule cell progenitor migration...

Research Grants84

  1. SIGNALING THROUGH RHO GTP/GDP EXCHANGE FACTORS
    Philip B Wedegaertner; Fiscal Year: 2013
    ..The research in this application will provide new knowledge about the functions of RhoGEFs and thus better define how the RhoGEFs can be therapeutically inhibited in disease without affecting their critical normal functions. ..
  2. Akt-regulated pathways in platelet function
    Donna S Woulfe; Fiscal Year: 2011
    ..abstract_text> ..
  3. Development of small molecule Limk inhibitors for probing ocular diseases
    Philip LoGrasso; Fiscal Year: 2012
    ..These compounds will serve as useful molecular tools to study the biological functions of Limk, and to probe ocular diseases and other Limk related CNS diseases. ) ..
  4. Osteoclastic Protein-Tyrosine Phosphatase and Resorption
    Kin Hing William Lau; Fiscal Year: 2013
    ..This project may allow disclose novel targets for development of more effective anti-resorptive therapies for osteoporosis and related disease. Thus, this project is highly relevant to the VA patient care mission. ..
  5. STRUCTURE AND FUNCTION OF PAXILLIN
    Christopher E Turner; Fiscal Year: 2012
    ....
  6. MECHANISM OF RETROCORNEAL FIBROUS MEMBRANE
    EunDuck P Kay; Fiscal Year: 2010
    ..Such detailed information is crucial for targeting the specific stage and specific pathway before inflammation causes an irreversible EMT. ..
  7. Rho Kinase and Airway Hyperresponsiveness
    Stephanie A Shore; Fiscal Year: 2013
    ..Thus, the ROCK pathway may be an important and still relatively unexplored therapeutic target in asthma. Understanding the role of ROCKs in mouse models of asthma could lead to new strategies for preventing this disease. ..
  8. The use of patient-specific iPS cells to identify osteoclast defects in CMD
    I Ping Chen; Fiscal Year: 2011
    ....
  9. Lipid Signaling in Chemotaxis
    Miho Iijima; Fiscal Year: 2013
    ..The long-term goal of our study is to understand how chemotaxis works and how defects in chemotaxis cause human diseases using a variety of approaches including genetics, biochemistry, cell biology and proteomics. ..
  10. Planar Cell Polarity and the Cytoskeleton
    Andreas Jenny; Fiscal Year: 2013
    ..abstract_text> ..
  11. The use of patient-specific iPS cells to identify osteoclast defects in CMD
    I Ping Chen; Fiscal Year: 2013
    ..The long-term goal of this study is to establish CMD as a paradigm for studying mechanisms of rare genetic skeletal disease. ..
  12. Hypoxia-induced Endothelial Barrier Dysfunction
    Usamah Kayyali; Fiscal Year: 2009
    ..The findings of this study are expected to further our understanding of mechanisms involved in the development of endothelial barrier dysfunction, in general, and to suggest targets for treatment of pulmonary edema. ..
  13. Role of p190RhoGEF (Rgnef) in cell motility and tumor progression
    Nichol L G Miller; Fiscal Year: 2013
    ..The results will enhance our current understanding of intracellular signaling pathways promoting ovarian carcinoma tumor progression. ..
  14. Fic-mediated Adenylylation
    CAROLYN ANN WORBY; Fiscal Year: 2013
    ..This covalent addition of AMP blocks signal transduction pathways in the host that are important for combating bacterial infections. ..
  15. Rho-Modifying Cytotoxic Necrotizing Factor of E. coli
    ALISON DAVIS O'BRIEN; Fiscal Year: 2013
    ..attempt to reduce the extent of inflammation and damage evoked by CP9 through parenteral and/or mucosal immunization of mice with a CNF1/Hly toxoid cocktail. ..
  16. Novel Signaling Pathways in Ischemic Stroke
    JAMES KUANG JAN LIAO; Fiscal Year: 2013
    ..This research application proposes to investigate the role of an emerging signaling pathway, Rho kinase (ROCK), in platelets as a potential therapeutic target for preventing and treating ischemic strokes. ..
  17. Microtubule-associated Rac
    Anna Birukova; Fiscal Year: 2013
    ..These studies will characterize novel barrier protective mechanisms and identify new protein targets for future therapies aimed at prevention of the pulmonary vascular barrier dysfunction associated with acute lung injury. ..
  18. Control of lung permeability by oxidized phospholipids
    Konstantin Birukov; Fiscal Year: 2012
    ....
  19. The Rho GTPases Cdc42 and Rac1 in diabetic Nephropathy
    JEFFREY BENTON HODGIN; Fiscal Year: 2013
    ....
  20. CELL BIOLOGY OF BIOACTIVE PEPTIDE SECRETION
    Richard E Mains; Fiscal Year: 2013
    ....
  21. Redox Regulation of the rho-GTPases in the vasculature
    Sharon L Campbell; Fiscal Year: 2012
    ..Thus, information derived from this effort may aid in developing therapies to combat vascular pathologies such as respiratory distress syndrome and ischemia-reperfusion injury. ..
  22. Rac1 and Rac2 Guanosine Triphosphatases in Erythroid Function and Differentiation
    THEODOSIA ANASTASIOS KALFA; Fiscal Year: 2012
    ..abstract_text> ..
  23. Myosin Functions in the Enterocyte
    Mark S Mooseker; Fiscal Year: 2012
    ..g. cystic fibrosis transmembrane conductance regulator, Na+/phosphate exchanger 2b,Toll-like receptor 4) will be explored. ..
  24. Role of Surface Roughness in Regulating Tumor Cell Behavior
    Sarah C Glover; Fiscal Year: 2012
    ....
  25. Functional linkage of NHE1 and calpain in IPAH
    Larissa A Shimoda; Fiscal Year: 2013
    ..Such information is crucial to advancing treatment and developing new therapeutic options to treat this deadly disease. (End of Abstract) ..
  26. Vascular Oxidases in Migration
    Kathy K Griendling; Fiscal Year: 2013
    ..Understanding the mechanisms underlying migration may lead to the development of new therapeutic strategies that can be carefully and specifically targeted to the critically important events in disease initiation. ..
  27. Protective role of ANP in the models of acute lung injury
    Anna Birukova; Fiscal Year: 2013
    ..We believe that these studies may identify novel protein targets and propose new therapies for prevention of pulmonary vascular barrier dysfunction associated with acute lung inflammation and injury. ..
  28. Nox4 and Vascular Smooth Muscle Differentiation
    Kathy K Griendling; Fiscal Year: 2013
    ..abstract_text> ..
  29. Control of Alcohol Responses by Actin-Regulating Genes
    Adrian Rothenfluh; Fiscal Year: 2013
    ..In conducting this research, we hope to identify risk factors for the development of alcoholism, as well as provide leads for the development of new therapeutic strategies aiding in the treatment of alcohol use disorders. ..
  30. Cell polarity and aging
    JOSE RICARDO MCFALINE FIGUEROA; Fiscal Year: 2012
    ..Our studies will provide clues into the conserved mechanisms of cellular and tissue degeneration, and insights into possible treatment strategies. ..
  31. CDC42GAP in Insulin Signaling in Hepatocytes
    MATTHEW WILLIAM GROGG; Fiscal Year: 2010
    ..Understanding the role of Cdc42GAP and Cdc42 in insulin signaling and glucose homeostasis may allow for modulation of this pathway in the treatment of obesity, diabetes, or cancer. ..
  32. Developmental Regulation of Collective Cell Migration
    Denise J Montell; Fiscal Year: 2013
    ....
  33. Rho kinase in immune-mediated atherosclerosis
    William A Boisvert; Fiscal Year: 2010
    ..Successful completion of these studies will likely implicate ROCK in several atherogenic processes and may lead to development of therapies aimed at inhibiting ROCK in macrophages to combat atherosclerosis. ..
  34. STRUCTURAL ANALYSIS OF G PROTEIN REGULATORY MECHANISMS
    STEPHEN SPRANG; Fiscal Year: 2009
    ..The structural models obtained from these results, and the functional hypotheses inferred therefrom will be tested by activity assays of structure- based site directed mutants. ..
  35. Rho GTPases in Terminal Erythroid Maturation
    THEODOSIA ANASTASIOS KALFA; Fiscal Year: 2013
    ..End of Abstract) ..
  36. Role of alpha6beta4 integrin in epidermal carcinogenesis
    David M Owens; Fiscal Year: 2010
    ....
  37. Opioid Receptors in Excitatory Synapses
    Dezhi Liao; Fiscal Year: 2010
    ....
  38. CALCIUM AND PANCREATIC STIMULUS-SECRETION COUPLING
    John A Williams; Fiscal Year: 2013
    ..If these enzymes are not inflammatory disease pancreatitis can result. The present work is directed at understanding of the proteins involved in normal digestive enzyme secretion. ..
  39. Defining the Role of Boi1/Boi2 in the Coordination of Actin Polarity and Polarize
    LEAH JOY WATSON; Fiscal Year: 2013
    ..Understanding the basic mechanism involved in cell polarity thus can improve diagnostic and preventative approaches to human disease. ..
  40. Mechanisms Driving Cortical Cytoskeleton Dynamics in Cancer Cell Invasion
    Kathryn M Eisenmann; Fiscal Year: 2013
    ....
  41. SIGNALING MECHANISMS IN CELL POLARITY IN YEAST
    Erfei Bi; Fiscal Year: 2012
    ..Deregulation of Cdc42p activity in mammals is associated with serious human diseases, such as cancer. Thus, studying the signaling mechanisms of Cdc42p in yeast will have profound implication in basic biology and clinical sciences. ..
  42. EPITHELIAL CXCR4 IN A MUCOSAL COMMUNICATION NETWORK
    MICHAEL DWINELL; Fiscal Year: 2009
    ..abstract_text> ..
  43. CELL AND MOLECULAR BIOLOGICAL ANALYSIS OF SYNAPTOPODIN
    PETER H MUNDEL; Fiscal Year: 2013
    ..This should in the long-term enable us to develop novel, selective podocyte- protective therapies that tackle proteinuria by promoting the synaptopodin-dependent preservation of the normal foot process architecture. ..
  44. Role of an unusual GTPase in DNA damage response and carcinogenesis
    Sam W Lee; Fiscal Year: 2012
    ..abstract_text> ..
  45. Regulation of Microtubules by Rho GTPases
    Gregg G Gundersen; Fiscal Year: 2013
    ....
  46. Regulation of Membrane-Cortical Cytoskeleton Crosstalk by WASH
    Susan M Parkhurst; Fiscal Year: 2013
    ....
  47. Mechanisms Governing Monocyte Recruitment during Periodontal Inflammation
    Rebecca Worthylake; Fiscal Year: 2010
    ..Our studies are designed to understand the molecular mechanisms that govern periodontal inflammation, which will provide necessary information for rational development of therapeutic interventions. ..
  48. PAK1's role in eotaxin-mediated murine eosinophil migration
    Muithi M Mwanthi; Fiscal Year: 2012
    ..We predict that the results in this project will inform the testing of anti-PAK therapy in preventing the development of eosinophilic inflammation in murine models of asthma. ..
  49. Endothelial Progenitor-derived Endothelial Cells as a Model for Familial CCM
    Christopher F Dibble; Fiscal Year: 2013
    ..The aims will define regulation of the actin cytoskeleton by the CCM proteins and the ability of therapeutic targeting of the ROCK signaling axis to rescue CCM-related pathophysiology in EP-ECs derived from human patients. ..
  50. Rap1 - Krit1 Regulation of Endothelial Permeability
    Rebecca A Stockton; Fiscal Year: 2012
    ..It will potentially identify target molecules for pharmacological treatment of pathological leak, and genetic treatment of CCM2 disease. (End of Abstract) ..
  51. BAR proteins linking membrane and cytoskeleton dynamics
    Roberto Dominguez; Fiscal Year: 2013
    ..abstract_text> ..
  52. Small molecule inhibition of Rho GTPase activation to probe signaling cascades
    Li An Yeh; Fiscal Year: 2013
    ..These compounds may also serve as potential lead compounds for drug development. ..
  53. The role of RhoA and its targets in craniofacial cartilage morphogenesis
    BARBARA SISSON; Fiscal Year: 2010
    ....
  54. Signaling to Cellular Intercalation in Arabidopsis
    Zhenbiao Yang; Fiscal Year: 2013
    ..Because failure in CE causes neural tube defects, a common developmental disorder (1 out of 1000 pregnancies), this research might ultimately be relevant to human health improvements. ..
  55. Immune Evasion by Multiple Myeloma: Role of the Rho Kinase Signaling Pathway
    Randy R Brutkiewicz; Fiscal Year: 2013
    ..Increasing our understanding of the molecular mechanisms that govern antigen presentation by CD1d has applications not only in cancer, but also in infectious diseases, vaccine development and autoimmune diseases. ..
  56. Rho GTPases and Actin Cytoskeletal Function in Renal Ischemia
    Simon J Atkinson; Fiscal Year: 2012
    ..The studies proposed will test a possible mechanism leading to cell injury that could be a target for drug therapy. ..
  57. Stiffness, cadherins, and integrins in mechanochemical signaling
    Christopher S Chen; Fiscal Year: 2013
    ....
  58. Structural Biology of Formin Proteins
    Michael Eck; Fiscal Year: 2009
    ..Our studies of Bud6 will yield a structure-based model of its function in the establishment of cell polarity, and will provide a paradigm for understanding how diverse formins are engaged for specific cellular functions. ..
  59. Non-canoical Wnt signaling and cell motility
    Raymond Habas; Fiscal Year: 2013
    ..These studies together will advance our knowledge of how non-canonical Wnt signaling regulates cell polarity and cell motility required during gastrulation cell movements and neural fold closure. ..
  60. Structural Biology of Formin Proteins
    Michael J Eck; Fiscal Year: 2013
    ..These studies will reveal both distinct, formin-specific regulatory mechanisms and common principles that are applicable to many formin proteins. ..
  61. A Toolkit for Light-Control of Molecular Processes in Living Cells
    ORION DAVID WEINER; Fiscal Year: 2013
    ..This highly flexible light-gated protein-protein interaction will provide remote control "dials" that will enable a new generation of perturbative, quantitative experiments in cell biology. ..
  62. Nox1 and Nox4 Containing Oxidases are Required for PDGF-induced Migration of
    HOLLY COLETTE WILLIAMS; Fiscal Year: 2010
    ..Understanding the mechanism by which PDGF induces VSMC migration is very important to developing therapeutic strategies to combat cardiovascular disease. ..
  63. MOLECULAR MECHANISMS OF PHOTORECEPTOR FUNCTION
    Barry E Knox; Fiscal Year: 2010
    ..a. Characterize the UPR/ER stress response in transgenic Xenopus expressing the autosomal dominant rhodopsin mutant, P23H. b. Characterize the UPR/ER stress response in Rho(P23H) transgenic mice...
  64. A Ribozyme Rescue Strategy for Autosomal Dominant Retinitis Pigmentosa
    John M Sullivan; Fiscal Year: 2012
    ..Expected results are knowledge of the minimum amount of WT human rhodopsin that is needed to keep a mammalian rod photoreceptor alive and vital. Aim 3...
  65. A Ribozyme Rescue Strategy for Dry Age-Related Macular Degeneration
    John M Sullivan; Fiscal Year: 2013
    ..The strategy is: 1) reduce rhodopsin (RHO) to constrain ATR formation that results mostly from rod pigment bleaching, and 2) constrain retinoid cycle ..
  66. Rhodopsin Trafficking and Retinal Degenerations
    Alecia K Gross; Fiscal Year: 2012
    ..The goal of this study is to identify proteins that interact with rhodopsin during transport and those involved in the biogenesis of disk membranes in the outer segment of rod cells, and ..
  67. Translational Gene Therapy for Rhodopsin Autosomal Dominant Retinitis Pigmentosa
    William A Beltran; Fiscal Year: 2013
    ..animal models (mouse and dog) for translation to patients with autosomal dominant RP caused by mutations in the rhodopsin gene (RHO)...
  68. Ang II and Aldosterone Effects on Insulin Resistance in Cardiovascular Tissue
    JAMES RUSSELL SOWERS; Fiscal Year: 2013
    ..A better understanding of factors involved in insulin resistance should enable development of therapeutic targets to help prevent diabetes and cardiovascular disease. ..
  69. MULTIPLEX CIS-REGULATORY ANALYSIS IN MAMMALIAN CELLS
    Joseph C Corbo; Fiscal Year: 2012
    ..In Aim 1 we will dissect, at single nucleotide resolution, the photoreceptor- specific Rhodopsin (Rho) promoter...
  70. Myosin phosphatase autoinhibition in gastrointestinal smooth muscle contraction
    Avril V Somlyo; Fiscal Year: 2012
    ..The results of the research should translate into novel treatments for targeting these diseases. ..
  71. PLD2, as a GEF or as a Lipase, is Central to Leukocyte Chemotaxis
    JULIAN G CAMBRONERO; Fiscal Year: 2013
    ..If we can avoid the untimely presence of these cells in ischemia, heart failure after myocardial infarction would then be diminished. ..
  72. Defining the role and regulation of the RhoGEF Ect2 in ovarian cancer cells
    LAUREN PARKER HUFF; Fiscal Year: 2013
    ..If Ect2-dependent transformation is regulated by kinases as I predict, then these kinases may be druggable targets for ovarian cancer. ..
  73. Development of Vaccines against Clostridium difficile Infection
    SAUL R TZIPORI; Fiscal Year: 2013
    ..difficile infection, reduce the severity, or eliminate an ongoing chronic disease. ..
  74. Mac-1 (CR3) and Fc gamma receptors in immune-mediated neutrophil cytotoxicity
    Tanya N Mayadas; Fiscal Year: 2013
    ..This could lead to the identification of targeted therapeutic strategies that attenuate organ injury while minimally immunocompromising the host. ..
  75. Neurotrophins in the Lung
    Y S Prakash; Fiscal Year: 2012
    ..By establishing the role of neurotrophins in airway narrowing with or without inflammation, the proposed studies will the foundation for better understanding of airway diseases, and potential development of new therapeutic targets. ..
  76. Regulation of Rho Signaling by S-Nitrosothiols
    A Richard Whorton; Fiscal Year: 2012
    ..abstract_text> ..
  77. Diverse Roles for RIC8 During G Protein Signaling in Fungi
    Katherine A Borkovich; Fiscal Year: 2012
    ....
  78. Cellular and Molecular Regulation of Thrombopoiesis
    Ramesh A Shivdasani; Fiscal Year: 2012
    ..Characterizing key molecular pathways of platelet formation should lead to better control of circulating platelet counts and to implementation of less toxic treatments for cancer. ..
  79. Functional characterization of Rho inactivation by Vibro cholerae RTX toxin
    BRETT L GEISSLER; Fiscal Year: 2010
    ..The further characterization of components involved in the regulation of Rho GTPases from the proposed research will also benefit eukaryotic cell signaling research. ..
  80. Role of Rho Kinase in Aqueous Humor Outflow Pathway
    P Rao; Fiscal Year: 2004
    ..Identification of specific signaling mechanisms regulating function of outflow pathway tissues could enable the design of target-specific approaches to the treatment of glaucoma. ..
  81. G Proteins and Endothelial Barrier Regulation
    Tatyana Voyno Yasenetskaya; Fiscal Year: 2004
    ..abstract_text> ..
  82. Statins and VEGF-induced cytoskeletal remodeling
    FARHAD DANESH; Fiscal Year: 2009
    ..abstract_text> ..
  83. GTP-BINDING PROTEIN RHO IN T CELL SIGNALING PATHWAYS
    Jonathan Moorman; Fiscal Year: 2000
    ..Advocates within the Beirne Carter Center for Immunology and the Departments of Medicine and Microbiology will insure that I receive excellent training as I make the transition to an independent investigator. ..
  84. BIOLOGY OF TRABECULAR MESHWORK IN HEALTH AND DISEASE
    BEATRICE YUE; Fiscal Year: 2009
    ..The overall goal of our proposal is to illustrate the mechanisms to provide a deeper understanding regarding the pathogenesis of glaucomas. ..