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Academic Journal

The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye.

  • Authors : Hu J; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, Texas, United States.; Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas, United States.

Subjects: Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/genetics ; Fuchs' Endothelial Dystrophy*/Fuchs' Endothelial Dystrophy*/Fuchs' Endothelial Dystrophy*/metabolism; Humans

  • Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 May 01; Vol. 64 (5), pp. 16.Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited

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Academic Journal

Viral-based animal models in polyglutamine disorders.

  • Authors : Henriques C; Center for Neuroscience and Cell Biology (CNC), Gene and Stem Cell Therapies for the Brain Group, University of Coimbra, 3004-504 Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Vectors, Gene and Cell Therapy Group, University of Coimbra, 3004-504 Coimbra, Portugal.

Subjects: Trinucleotide Repeat Expansion* ; Peptides*/Peptides*/Peptides*/genetics; Animals

  • Source: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1166-1189.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.

  • Authors : Hoschek F; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.; Natan J

Subjects: Huntingtin Protein*/Huntingtin Protein*/Huntingtin Protein*/genetics ; Huntingtin Protein*/Huntingtin Protein*/Huntingtin Protein*/metabolism ; Huntington Disease*/Huntington Disease*/Huntington Disease*/genetics

  • Source: Molecular medicine (Cambridge, Mass.) [Mol Med] 2024 Mar 08; Vol. 30 (1), pp. 36. Date of Electronic Publication: 2024 Mar 08.Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658

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Academic Journal

[Spinocerebellar ataxia 2 develop lower motor neuron involvement as an initial symptom: a case report].

  • Authors : Matsushita M; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine.; Nakamura Y

Subjects: Trinucleotide Repeat Expansion* ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/diagnosis ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics

  • Source: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2024 Jan 20; Vol. 64 (1), pp. 28-32. Date of Electronic Publication: 2023 Dec 08.Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic modifiers of repeat expansion disorders.

  • Authors : Rajagopal S; UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; UK Dementia Research Institute, University College London, London WCC1N 3BG, U.K.

Subjects: Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/genetics; Mice ; Animals

  • Source: Emerging topics in life sciences [Emerg Top Life Sci] 2023 Dec 14; Vol. 7 (3), pp. 325-337.Publisher: Portland Press Country of Publication: England NLM ID: 101706399 Publication Model: Print Cited Medium: Print ISSN: 2397-8554 (Print)

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Periodical

Targeting expanded trinucleotide repeats.

Subjects: Trinucleotide Repeat Expansion*; Humans ; Mutation

  • Source: Nature reviews. Drug discovery [Nat Rev Drug Discov] 2023 Nov; Vol. 22 (11), pp. 873.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101124171 Publication Model: Print Cited Medium: Internet ISSN: 1474-1784

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Academic Journal

m 1 A in CAG repeat RNA binds to TDP-43 and induces neurodegeneration.

  • Authors : Sun Y; Department of Chemistry, University of California Riverside, Riverside, CA, USA.; Dai H

Subjects: Adenosine*/Adenosine*/Adenosine*/analogs & derivatives ; Adenosine*/Adenosine*/Adenosine*/metabolism ; Caenorhabditis elegans*/Caenorhabditis elegans*/Caenorhabditis elegans*/genetics

  • Source: Nature [Nature] 2023 Nov; Vol. 623 (7987), pp. 580-587. Date of Electronic Publication: 2023 Nov 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Gelation of cytoplasmic expanded CAG RNA repeats suppresses global protein synthesis.

  • Authors : Pan Y; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, New Cornerstone Science Laboratory, School of Life Sciences, Fudan University, Shanghai, China.; Lu J

Subjects: Trinucleotide Repeat Expansion* ; Huntington Disease*/Huntington Disease*/Huntington Disease*/genetics; Humans

  • Source: Nature chemical biology [Nat Chem Biol] 2023 Nov; Vol. 19 (11), pp. 1372-1383. Date of Electronic Publication: 2023 Aug 17.Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101231976 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.

  • Authors : Viberg A; Department of Clinical Sciences/Ophthalmology, Umeå University, Umeå, Sweden.; Westin IM

Subjects: Fuchs' Endothelial Dystrophy*/Fuchs' Endothelial Dystrophy*/Fuchs' Endothelial Dystrophy*/epidemiology ; Fuchs' Endothelial Dystrophy*/Fuchs' Endothelial Dystrophy*/Fuchs' Endothelial Dystrophy*/genetics ; Transcription Factor 4*/Transcription Factor 4*/Transcription Factor 4*/genetics

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2022 Aug; Vol. 100 (5), pp. 541-548. Date of Electronic Publication: 2021 Oct 13.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.

  • Authors : Cho IK; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. .; Division of Neuropharmacology and Neurologic Diseases, Emory National Primate Research Center, Emory University, Atlanta, GA, USA. .

Subjects: Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/genetics ; Huntington Disease*/Huntington Disease*/Huntington Disease*/drug therapy ; Huntington Disease*/Huntington Disease*/Huntington Disease*/genetics

  • Source: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2022 Oct; Vol. 39 (10), pp. 2413-2430. Date of Electronic Publication: 2022 Sep 06.Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  11,669 results for ""Trinucleotide Repeat Expansion""