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Journal Abstract Search

246 related items for PubMed ID: 27203721

  • 1. Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.
    Kolicheski A, Johnson GS, O'Brien DP, Mhlanga-Mutangadura T, Gilliam D, Guo J, Anderson-Sieg TD, Schnabel RD, Taylor JF, Lebowitz A, Swanson B, Hicks D, Niman ZE, Wininger FA, Carpentier MC, Katz ML.
    J Vet Intern Med; 2016 Jul; 30(4):1149-58. PubMed ID: 27203721
    [Abstract] [Full Text] [Related]

  • 2. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
    Villani NA, Bullock G, Michaels JR, Yamato O, O'Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.
    Mol Genet Metab; 2019 May; 127(1):107-115. PubMed ID: 31101435
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  • 3. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
    Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.
    Mol Genet Metab; 2014 Aug; 112(4):302-9. PubMed ID: 24953404
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  • 4. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
    Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS.
    BMC Vet Res; 2015 Jan 03; 10():960. PubMed ID: 25551667
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  • 5. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
    Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN.
    Genomics; 2005 Sep 03; 86(3):287-94. PubMed ID: 16033706
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  • 6. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.
    Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML.
    Mol Genet Metab; 2015 Sep 03; 115(2-3):101-9. PubMed ID: 25934231
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  • 7. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
    Hirz M, Drögemüller M, Schänzer A, Jagannathan V, Dietschi E, Goebel HH, Hecht W, Laubner S, Schmidt MJ, Steffen F, Hilbe M, Köhler K, Drögemüller C, Herden C.
    Mol Genet Metab; 2017 Mar 03; 120(3):269-277. PubMed ID: 28024876
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  • 9. Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.
    Mizukami K, Chang HS, Yabuki A, Kawamichi T, Kawahara N, Hayashi D, Hossain MA, Rahman MM, Uddin MM, Yamato O.
    J Vet Diagn Invest; 2011 Nov 03; 23(6):1131-9. PubMed ID: 22362793
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  • 10. Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.
    Guo J, Johnson GS, Cook J, Harris OK, Mhlanga-Mutangadura T, Schnabel RD, Jensen CA, Katz ML.
    Mol Genet Metab Rep; 2019 Dec 03; 21():100521. PubMed ID: 31687336
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  • 12. Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8.
    Lingaas F, Guttersrud OA, Arnet E, Espenes A.
    Anim Genet; 2018 Feb 03; 49(1):52-58. PubMed ID: 29446145
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  • 13. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6.
    Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.
    Genes (Basel); 2024 May 23; 15(6):. PubMed ID: 38927597
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  • 14. Evaluation of genetic diversity and management of disease in Border Collie dogs.
    Soh PXY, Hsu WT, Khatkar MS, Williamson P.
    Sci Rep; 2021 Mar 18; 11(1):6243. PubMed ID: 33737533
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  • 15. Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6.
    Bellamy KKL, Skedsmo FS, Hultman J, Jansen JH, Lingaas F.
    Anim Genet; 2024 Aug 18; 55(4):612-620. PubMed ID: 38866396
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  • 16. Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.
    Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA, Mhlanga-Mutangadura T, O'Brien DP, Johnson GS, Dreyfus J, Katz ML.
    J Vet Intern Med; 2017 Jan 18; 31(1):149-157. PubMed ID: 28008682
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  • 17. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.
    Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP.
    J Biomed Biotechnol; 2011 Jan 18; 2011():198042. PubMed ID: 21234413
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