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Academic Journal

Inflammation of the retinal pigment epithelium drives early-onset photoreceptor degeneration in Mertk -associated retinitis pigmentosa.

  • Authors : Mercau ME; Department of Immunobiology, School of Medicine, Yale University, New Haven, CT 06520, USA.; Akalu YT

Subjects: Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/genetics ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/metabolism ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

  • Source: Science advances [Sci Adv] 2023 Jan 20; Vol. 9 (3), pp. eade9459. Date of Electronic Publication: 2023 Jan 20.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication

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Academic Journal

Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.

  • Authors : Giffen KP; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University/University of Georgia Medical Partnership, Athens, GA 30602, USA.

Subjects: Amino Acid Transport System y+*/Amino Acid Transport System y+*/Amino Acid Transport System y+*/genetics ; Hearing Loss, Central*/Hearing Loss, Central*/Hearing Loss, Central*/metabolism ; Lysosomes*/Lysosomes*/Lysosomes*/metabolism Auditory neuropathy

  • Source: Science advances [Sci Adv] 2022 Apr 08; Vol. 8 (14), pp. eabk0942. Date of Electronic Publication: 2022 Apr 08.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication

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Academic Journal

Retinoic acid inhibitors mitigate vision loss in a mouse model of retinal degeneration.

  • Authors : Telias M; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.; Sit KK

Subjects: Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/drug therapy ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/etiology ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/metabolism

  • Source: Science advances [Sci Adv] 2022 Mar 18; Vol. 8 (11), pp. eabm4643. Date of Electronic Publication: 2022 Mar 18.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication

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Academic Journal

Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa.

  • Authors : Busskamp V; Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland.; Duebel J

Subjects: Genetic Therapy*; Halorhodopsins/Halorhodopsins/Halorhodopsins/*genetics ; Halorhodopsins/Halorhodopsins/Halorhodopsins/*metabolism

  • Source: Science (New York, N.Y.) [Science] 2010 Jul 23; Vol. 329 (5990), pp. 413-7. Date of Electronic Publication: 2010 Jun 24.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

On the molecular genetics of retinitis pigmentosa.

  • Authors : Humphries P; Department of Genetics, Trinity College, University of Dublin, Ireland.; Kenna P

Subjects: Mutation* ; X Chromosome*; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*genetics

  • Source: Science (New York, N.Y.) [Science] 1992 May 08; Vol. 256 (5058), pp. 804-8.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Improving the spatial resolution of epiretinal implants by increasing stimulus pulse duration.

  • Authors : Weitz AC; Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA. Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90089, USA.; Nanduri D

Subjects: Phosphenes* ; Prosthesis Design* ; Retinal Ganglion Cells*/Retinal Ganglion Cells*/Retinal Ganglion Cells*/metabolism

  • Source: Science translational medicine [Sci Transl Med] 2015 Dec 16; Vol. 7 (318), pp. 318ra203.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

  • Authors : Kajiwara K; Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.; Berson EL

Subjects: Membrane Glycoproteins* ; Nerve Tissue Proteins*; Eye Proteins/Eye Proteins/Eye Proteins/*genetics

  • Source: Science (New York, N.Y.) [Science] 1994 Jun 10; Vol. 264 (5165), pp. 1604-8.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Neuroscience. Seeing the light of day.

  • Authors : Cepko C; Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.

Subjects: Genetic Therapy* ; Vision, Ocular*; Halorhodopsins/Halorhodopsins/Halorhodopsins/*genetics

  • Source: Science (New York, N.Y.) [Science] 2010 Jul 23; Vol. 329 (5990), pp. 403-4.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Inherited retinal dystrophy: primary defect in pigment epithelium determined with experimental rat chimeras.

Subjects: Disease Models, Animal* ; Genes*; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*genetics

  • Source: Science (New York, N.Y.) [Science] 1976 May 21; Vol. 192 (4241), pp. 799-801.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

White blood cell cultures in genetic studies on the human mucopolysaccharidoses.

Subjects: Carbohydrate Metabolism, Inborn Errors* ; Culture Techniques* ; Heterozygote*

  • Source: Science (New York, N.Y.) [Science] 1969 Apr 25; Vol. 164 (3878), pp. 424-6.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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