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Page 1
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium; Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Cogné B, et al. Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386558 Free PMC article.
Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits.
Genova F, Nonnis S, Maffioli E, Tedeschi G, Strillacci MG, Carisetti M, Sironi G, Cupaioli FA, Di Nanni N, Mezzelani A, Mosca E, Helps CR, Leegwater PAJ, Dorso L; 99 Lives Consortium; Longeri M. Genova F, et al. Sci Rep. 2021 Apr 16;11(1):8339. doi: 10.1038/s41598-021-87168-0. Sci Rep. 2021. PMID: 33863921 Free PMC article.
CTSK variant implicated in suspected pyknodysostosis in a domestic cat.
Lyraki M, Hibbert A, Langley-Hobbs S, Lait P, Buckley RM, Warren WC, Lyons LA; 99 Lives Consortium. Lyraki M, et al. JFMS Open Rep. 2022 Dec 12;8(2):20551169221137536. doi: 10.1177/20551169221137536. eCollection 2022 Jul-Dec. JFMS Open Rep. 2022. PMID: 36532681 Free PMC article.
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM, Daruwalla A, De Silva SR, Winkler PA, Sun K, Pasmanter N, Minella A, Querubin J, Lyons LA; 99 Lives Consortium; Robson AG, Heon E, Michaelides M, Webster AR, Palczewski K, Vincent A, Mahroo OA, Kiser PD, Petersen-Jones SM. Occelli LM, et al. Hum Mol Genet. 2022 Apr 22;31(8):1263-1277. doi: 10.1093/hmg/ddab316. Hum Mol Genet. 2022. PMID: 34726233 Free PMC article.
X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.
Kopke MA, Shelton GD, Lyons LA, Wall MJ, Pemberton S, Gedye KR, Owen R, Guo LT, Buckley RM, Valencia JA; 99 Lives Consortium; Jones BR. Kopke MA, et al. J Vet Intern Med. 2022 Sep;36(5):1800-1805. doi: 10.1111/jvim.16509. Epub 2022 Aug 13. J Vet Intern Med. 2022. PMID: 35962713 Free PMC article.
PEA15 loss of function and defective cerebral development in the domestic cat.
Graff EC, Cochran JN, Kaelin CB, Day K, Gray-Edwards HL, Watanabe R, Koehler JW, Falgoust RA, Prokop JW, Myers RM, Cox NR, Barsh GS, Martin DR; 99 Lives Consortium. Graff EC, et al. PLoS Genet. 2020 Dec 8;16(12):e1008671. doi: 10.1371/journal.pgen.1008671. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33290415 Free PMC article.
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