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La ricerca find articoli where soggetti phrase all words 'DISEASE GENE ABCR' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 25 riferimenti
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    1. Schmitz, G; Kaminski, WE
      ABC transporters and cholesterol metabolism

      FRONTIERS IN BIOSCIENCE
    2. Mata, NL; Tzekov, RT; Liu, XR; Weng, J; Birch, DG; Travis, GH
      Delayed. dark-adaptation and lipofuscin accumulation in abcr+/- mice: Implications for involvement of ABCR in age-related macular degeneration

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    3. Scholl, HPN; Kremers, J; Vonthein, R; White, K; Weber, BHF
      L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    4. Briggs, CE; Rucinski, D; Rosenfeld, PJ; Hirose, T; Berson, EL; Dryja, TP
      Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    5. Bungert, S; Molday, LL; Molday, RS
      Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters - Identification of N-linked glycosylation sites

      JOURNAL OF BIOLOGICAL CHEMISTRY
    6. Ciulla, TA
      Evolving pathophysiological paradigms for age related macular degeneration

      BRITISH JOURNAL OF OPHTHALMOLOGY
    7. Le Saux, O; Beck, K; Sachsinger, C; Silvestri, C; Treiber, C; Goring, HHH; Johnson, EW; De Paepe, A; Pope, FM; Pasquali-Ronchetti, I; Bercovitch, L; Terry, S; Boyd, CD
      A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. Sun, H; Smallwood, PM; Nathans, J
      Biochemical defects in ABCR protein variants associated with human retinopathies

      NATURE GENETICS
    9. Molday, LL; Rabin, AR; Molday, RS
      ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

      NATURE GENETICS
    10. Weeks, DE; Conley, YP; Mah, TS; Paul, TO; Morse, L; Ngo-Chang, J; Dailey, JP; Ferrell, RE; Gorin, MB
      A full genome scan for age-related maculopathy

      HUMAN MOLECULAR GENETICS
    11. Schmitz, G; Kaminski, WE; Orso, E
      ABC transporters in cellular lipid trafficking

      CURRENT OPINION IN LIPIDOLOGY
    12. Eckmiller, MS
      Microtubules in a rod-specific cytoskeleton associated with outer segment incisures

      VISUAL NEUROSCIENCE
    13. Sparrow, JR; Nakanishi, K; Parish, CA
      The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    14. Ahn, J; Molday, RS
      Purification and characterization of ABCR from bovine rod outer segments

      VERTEBRATE PHOTOTRANSDUCTION AND THE VISUAL CYCLE, PART A
    15. Ahn, J; Wong, JT; Molday, RS
      The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy

      JOURNAL OF BIOLOGICAL CHEMISTRY
    16. Rattner, A; Smallwood, PM; Nathans, J
      Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol

      JOURNAL OF BIOLOGICAL CHEMISTRY
    17. Lagali, PS; MacDonald, IM; Griesinger, IB; Chambers, ML; Ayyagari, R; Wong, PW
      Autosomal dominant Stargardt-like macular dystrophy segregating in a largeCanadian family

      CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
    18. Biswas, EE; Biswas, SB
      The C-terminal nucleotide binding domain of the human retinal ABCR proteinis an adenosine triphosphatase

      BIOCHEMISTRY
    19. Kaminski, WE; Orso, E; Diederich, W; Klucken, J; Drobnik, W; Schmitz, G
      Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7)

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    20. Dharmaraj, S; Li, YY; Robitaille, JM; Silva, E; Zhu, DP; Mitchell, TN; Maltby, LP; Baffoe-Bonnie, AB; Maumenee, IH
      A novel locus for Leber congenital amaurosis maps to chromosome 6q

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Birch, DG
      Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview

      MOLECULAR GENETICS AND METABOLISM
    22. Bakall, B; Marknell, T; Ingvast, S; Koisti, MJ; Sandgren, O; Li, W; Bergen, AAB; Andreasson, S; Rosenberg, T; Petrukhin, K; Wadelius, C
      The mutation spectrum of the bestrophin protein - functional implications

      HUMAN GENETICS
    23. Souied, EH; Ducroq, D; Rozet, JM; Gerber, S; Perrault, I; Sterkers, M; Benhamou, N; Munnich, A; Coscas, G; Soubrane, G; Kaplan, J
      A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    24. Gehrig, A; White, K; Lorenz, B; Andrassi, M; Clemens, S; Weber, BHF
      Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis

      CLINICAL GENETICS
    25. Kuroiwa, S; Kojima, H; Kikuchi, T; Yoshimura, N
      ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients

      BRITISH JOURNAL OF OPHTHALMOLOGY


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 06:50:29