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  • 1-10 ل  55 نتائج ل ""Photoreceptor Cells, Vertebrate""

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Subject : mutation
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Academic Journal

The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation.

  • Authors : Seko Y; Sensory Functions Section, Research Institute, National Rehabilitation Center for Persons with Disabilities, 4-1 Namiki, Tokorozawa, 359-8555, Japan. .; Department of Ophthalmology, Hospital, National Rehabilitation Center for Persons with Disabilities, 4-1 Namiki, Tokorozawa, 359-8555, Japan. .

Subjects: Mutation* ; RNA Stability*; Eye Proteins/Eye Proteins/Eye Proteins/*genetics

  • Source: Stem cell research & therapy [Stem Cell Res Ther] 2018 Oct 25; Vol. 9 (1), pp. 279. Date of Electronic Publication: 2018 Oct 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512

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Academic Journal

Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations.

  • Authors : Bonilha VL; a Cole Eye Institute, Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine , Cleveland , OH , USA , and.; Rayborn ME

Subjects: Mutation*; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/*genetics ; Macular Degeneration/Macular Degeneration/Macular Degeneration/*congenital Stargardt disease 1

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2016 Jun; Vol. 37 (2), pp. 150-60. Date of Electronic Publication: 2014 Sep 29.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration.

  • Authors : Genc AM; Department of Biomedical Engineering, University of Houston, Houston, TX 77204, USA.; Makia MS

Subjects: Mutation*; Eye Proteins/Eye Proteins/Eye Proteins/*physiology ; Peripherins/Peripherins/Peripherins/*metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Oct 29; Vol. 21 (21). Date of Electronic Publication: 2020 Oct 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.

  • Authors : Rao KN; Department of Ophthalmology, University of Massachusetts Medical School, Worcester, MA 01605, USA.; Li L

Subjects: Mutation*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*metabolism ; Eye Proteins/Eye Proteins/Eye Proteins/*metabolism

  • Source: Scientific reports [Sci Rep] 2015 Jun 11; Vol. 5, pp. 11137. Date of Electronic Publication: 2015 Jun 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.

Subjects: Genes, Recessive* ; Mutation*; Cadherins/Cadherins/Cadherins/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2018 Jan-Feb; Vol. 39 (1), pp. 51-55. Date of Electronic Publication: 2017 Sep 08.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.

  • Authors : Dan H; a Department of Ophthalmology , The Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University , Enshi , China.; Song X

Subjects: Mutation*; Calcium-Binding Proteins/Calcium-Binding Proteins/Calcium-Binding Proteins/*genetics ; Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*genetics Night blindness, congenital stationary

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2017 May-Jun; Vol. 38 (3), pp. 206-210. Date of Electronic Publication: 2016 Jul 18.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.

  • Authors : Lai YH; a Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.; b Department of Ophthalmology, Kaohsiung Medical University Hospital, and Department of Ophthalmology, School of Medicine, College of Medicine , Kaohsiung Medical University , Kaohsiung , Taiwan.

Subjects: Mutation*; Macular Edema/Macular Edema/Macular Edema/*genetics ; Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2016 Dec; Vol. 37 (4), pp. 424-426. Date of Electronic Publication: 2016 Feb 19.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

  • Authors : Mukherjee R; 1] Moorfields Eye Hospital NHS Foundation Trust, London, UK [2] Institute of Ophthalmology, University College London London, UK.; Robson AG

Subjects: Mutation* ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/genetics ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/pathology Retinal Cone Dystrophy 1

  • Source: Eye (London, England) [Eye (Lond)] 2014 Apr; Vol. 28 (4), pp. 481-7. Date of Electronic Publication: 2014 Jan 31.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Endothelin-2-mediated protection of mutant photoreceptors in inherited photoreceptor degeneration.

  • Authors : Bramall AN; Program in Developmental Biology, The Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Szego MJ

Subjects: Mutation*; Endothelin-2/Endothelin-2/Endothelin-2/*metabolism ; Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/*metabolism

  • Source: PloS one [PLoS One] 2013; Vol. 8 (2), pp. e58023. Date of Electronic Publication: 2013 Feb 28.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.

  • Authors : Alves CH; Department of Neuromedical Genetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.; Bossers K

Subjects: Mutation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Retina/Retina/Retina/*metabolism

  • Source: PloS one [PLoS One] 2013 Dec 06; Vol. 8 (12), pp. e82532. Date of Electronic Publication: 2013 Dec 06 (Print Publication: 2013).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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  • 1-10 ل  55 نتائج ل ""Photoreceptor Cells, Vertebrate""