يعرض 1 - 18 نتائج من 18 نتيجة بحث عن '"RP, retinitis pigmentosa"', وقت الاستعلام: 0.58s تنقيح النتائج
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    Academic Journal

    المؤلفون: Tatur, Guillaume, Pissaloux, Edwige

    المساهمون: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Informatique, de Traitement de l'Information et des Systèmes (LITIS), Université Le Havre Normandie (ULH), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut national des sciences appliquées Rouen Normandie (INSA Rouen Normandie), Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)

    المصدر: ISSN: 2574-1241 ; Biomedical Journal of Scientific & Technical Research ; https://normandie-univ.hal.science/hal-02362506 ; Biomedical Journal of Scientific & Technical Research, 2018, 9 (1), ⟨10.26717/BJSTR.2018.09.001732⟩.

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    Book

    المساهمون: Rocco, Maria Luisa, Calzà, Laura, Aloe, Luigi

    وصف الملف: ELETTRONICO

    Relation: info:eu-repo/semantics/altIdentifier/pmid/34453304; info:eu-repo/semantics/altIdentifier/wos/WOS:000696378000017; ispartofbook:Advances in Experimental Medicine and Biology; volume:1331; firstpage:255; lastpage:263; numberofpages:9; https://hdl.handle.net/11585/904885; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114225492

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    المصدر: The Journal of Biological Chemistry

    مصطلحات موضوعية: 11-cis retinal, RPE65, Biochemistry, CCD, carotenoid cleavage dioxygenase, Macular Degeneration, AAV, adeno-associated virus, 11cRDH, 11-cis-RDH (RDH5), AWAT2 (MFAT), acyl-CoA wax alcohol acyltransferase 2, RCD, rod–cone dystrophy, atRDH, all-trans-RDH, RNAseq, next-generation RNA sequencing, IRBP, interphotoreceptor retinoid-binding protein, 11cRE, 11-cis-retinyl esters, CRISPR/Cas9, clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9, LCA, Leber congenital amaurosis, RGR, ABCA4, ATP-binding cassette subfamily A member 4, adRP, autosomal dominant retinitis pigmentosa, 11cRAL, 11-cis-retinal, NHEJ, nonhomologous end joining, GLF, gain and loss of function, CSNB, congenital stationary blindness, ND, nitrosotalea devanaterra, Retinal Pigments, Visual phototransduction, Biochemistry & Molecular Biology, G protein-coupled receptor (GPCR), Reviews, PAM sequence, protospacer adjacent motif, GoF, gain of function, 03 medical and health sciences, Isomerism, Ocular, Retinitis pigmentosa, Genetics, Humans, Retinal G protein coupled receptor, All trans retinol, G protein-coupled receptor, LoF, loss of function, Molecular Biology, Eye Disease and Disorders of Vision, LRAT, lecithin:retinol acyltransferase, medicine.disease, DSBs, DNA double-stranded breaks, eye diseases, FDA, U.S. Food and Drug Administration, 030104 developmental biology, chemistry, rhodopsin, Neuroscience, 0301 basic medicine, retina, genetic structures, Vision, CRALBP, retinaldehyde-binding protein, arRP, autosomal recessive RP, Neurodegenerative, retinoid cycle, Medical and Health Sciences, chemistry.chemical_compound, NIH, National Institutes of Health, 11cROL, 11-cis-retinol, BCO, β-carotene 15,15′-dioxygenase, AMD, age-related macular degeneration, HDR, homology-directed repair, Rho, rhodopsin, RGR, retinal G-protein-coupled receptor, Biological Sciences, NinaB, neither inactivation nor afterpotential mutant B carotenoid oxygenases, NRL, retina-specific leucine zipper protein, eye, OS, the photoreceptor outer segments, medicine.anatomical_structure, HRAS, HRas proto-oncogene (GTPase), Vertebrates, Retinal Cone Photoreceptor Cells, cis-trans-Isomerases, RPE, retinal pigment epithelium, Biology, visual cycle, ER, endoplasmic reticulum, atROL, all-trans-retinol, Rare Diseases, PDB, Protein Data Bank, medicine, Animals, RDH, retinol dehydrogenase, RP, retinitis pigmentosa, Vision, Ocular, RPE65, retinoid isomerase, Retinal pigment epithelium, 030102 biochemistry & molecular biology, Neurosciences, Retinal, Cell Biology, CMV, cytomegalovirus, atRE, all-trans-retinyl esters, Chemical Sciences, atRAL, all-trans-retinal, sense organs, Luxturna, voretigene neparvovec-rzyl

    وصف الملف: application/pdf

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    المصدر: The Journal of Biological Chemistry

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    المصدر: Journal of Lipid Research, Vol 62, Iss, Pp 100037-(2021)
    Journal of Lipid Research
    CONICET Digital (CONICET)
    Consejo Nacional de Investigaciones Científicas y Técnicas
    instacron:CONICET

    مصطلحات موضوعية: 0301 basic medicine, RETINITIS PIGMENTOSA, genetic structures, DR, diabetic retinopathy, DHCer, dihydroceramide, Physiology, 030204 cardiovascular system & hematology, Biochemistry, AH, aqueous humor, purl.org/becyt/ford/1 [https], ASAH, N-acyl-sphingosine amidohydrolase, S1PR, S1P receptor, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Sph, sphingosine, AMD, age-related macular degeneration, GCS, glucosylceramide synthase, ceramide-1-phosphate, CDase, ceramidase, music.instrument, C1P, ceramide 1-phosphate, AGE-RELATED MACULAR DEGENERATION, PARP-1, poly-ADP ribose polymerase 1, purl.org/becyt/ford/3.1 [https], SphK, sphingosine kinase, SPT, serine palmitoyl transferase, VEGF, vascular endothelial growth factor, medicine.anatomical_structure, OAG, open-angle glaucoma, BDNF, brain-derived neurotrophic factor, SMS, SM synthase, purl.org/becyt/ford/3 [https], lipids (amino acids, peptides, and proteins), CerK, ceramide kinase, Thematic Review Series: Seeing 2020: Lipids and Lipid-Soluble Molecules in the Eye, Ceramide, RPE, retinal pigment epithelium, GlcCer, glucosylceramide, NGF, nerve growth factor, HexCer, hexosylceramide, Cer, ceramide, PDR, proliferative diabetic retinopathy, QD415-436, GalCer, galactosylceramide, CFH, complement factor H, VMD, vitelliform macular dystrophy, 03 medical and health sciences, Lactosylceramide, nSMase, neutral sphingomyelinase, retinitis pigmentosa, BEST1, bestrophin-1, PKC, protein kinase C, Retinitis pigmentosa, medicine, ceramide, Sphingosine-1-phosphate, purl.org/becyt/ford/1.6 [https], RP, retinitis pigmentosa, music, age-related macular degeneration, photoreceptor degeneration, Sphingolipids, Retina, Retinal pigment epithelium, SPHINGOSINE-1-PHOSPHATE, hBest1, human bestrophin-1, CERAMIDE, aSMase, acid SMase, business.industry, EAU, experimental autoimmune uveoretinitis, Thematic Review Series, Retinal, Cell Biology, medicine.disease, PHOTORECEPTOR DEGENERATION, IOP, intraocular pressure, Sphingolipid, CERAMIDE-1-PHOSPHATE, eye diseases, 030104 developmental biology, GA, geographic atrophy, chemistry, CerS, ceramide synthase, sphingosine-1-phosphate, LacCer, lactosylceramide, ADIPOR1, adiponectin receptor 1, sense organs, Mac Tel, macular telangiectasia, business, POAG, primary open-angle glaucoma, CERKL, ceramide kinase-like

    وصف الملف: application/pdf

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    المساهمون: Barillari, Maria Rosaria, Karali, Marianthi, Di Iorio, Valentina, Contaldo, Maria, Piccolo, Vincenzo, Esposito, Maria, Costa, Giuseppe, Argenziano, Giuseppe, Serpico, Rosario, Carotenuto, Marco, Cappuccio, Gerarda, Banfi, Sandro, Melillo, Paolo, Simonelli, Francesca

    المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100615-(2020)
    Molecular Genetics and Metabolism Reports

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    المصدر: NeuroImage : Clinical
    NeuroImage: Clinical, Vol 22, Iss, Pp-(2019)

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    المصدر: Ellingford, J, Barton, S, Bhaskar, S, Williams, S, Sergouniotis, P, O'Sullivan, J, Lamb, J, Perveen, R, Hall, G, Newman, W, Bishop, P, Roberts, S, Leach, R, Tearle, R, Bayliss, S, Ramsden, S, Nemeth, A H & Black, G 2016, ' Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease ', Ophthalmology, vol. 123, no. 5, pp. 1143–1150 . https://doi.org/10.1016/j.ophtha.2016.01.009
    Ophthalmology

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    Academic Journal
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    Academic Journal
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    المصدر: CIÊNCIAVITAE
    NeuroImage: Clinical, Vol 13, Iss C, Pp 428-438 (2017)
    BASE-Bielefeld Academic Search Engine
    NeuroImage : Clinical

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