المؤلفون: Lyons, LA, Buckley, RM, Harvey, RJ, Abitbol, Marie, Aberdein, Danielle, Alves, Paulo C, Andersson, Asa Ohlsson, Bellone, Rebecca R, Bergström, Tomas F, Bilgen, Nuket, Boyko, Adam R, Brockman, Jeffrey A, Casal, Margret L, Castelhano, Marta G, Davis, Brian W, Davison, Lucy, Distl, Ottmar, Dodman, Nicholas H, Ellinwood, N Matthew, Fogle, Jonathan E, Forman, Oliver P, Garrick, Dorian J, Ginns, Edward I, Häggström, Jens, Hasegawa, Daisuke, Haase, Bianca, Jagannathan, Vidhya, Lait, Philippa, Hernandez, Isabel, Hytönen, Marjo K, Kaukonen, Maria, Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L, Leeb, Tosso, Li, Ronald HL, Lohi, Hannes, Longeri, Maria, Magnuson, Mark A, Malik, Richard, Mane, Shrinivasrao P, Middleton, Rondo, Munday, John S, Murphy, William J, Myers, Alexandra N, Pedersen, Niels C, Peterson‐Jones, Simon M, Rothschild, Max F, Rusbridge, Clare, Schoenebeck, Jeffrey J, Shapiro, Beth, Stern, Joshua A, Swanson, William F, Terio, Karen A, Todhunter, Rory J, Warren, Wesley C, Wilcox, Elizabeth A, Wildschutte, Julia H, Yu, Yoshihiko

المصدر: Animal Genetics. 52(3)

مصطلحات موضوعية: Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Sequence, Animals, Breeding, Cats, Genome, Hair Color, Intercellular Signaling Peptides and Proteins, Phenotype, Abyssinian, coat pattern, Dickkopf , Wnt , Signaling , Pathway Inhibitor 4, DKK4, Tabby, Lives Cat Genome Consortium, DKK4, Dickkopf Wnt Signaling Pathway Inhibitor 4, Tabby, Zoology, Veterinary Sciences, Dairy & Animal Science

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/40m1s99dTest

المؤلفون: Kaukonen, Maria, Quintero, Ileana B, Mukarram, Abdul Kadir, Hytönen, Marjo K, Holopainen, Saila, Wickström, Kaisa, Kyöstilä, Kaisa, Arumilli, Meharji, Jalomäki, Sari, Daub, Carsten O, Kere, Juha, Lohi, Hannes

المصدر: PLOS Genetics. 16(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Neurosciences, Biotechnology, Eye Disease and Disorders of Vision, Human Genome, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Eye, Animals, Case-Control Studies, Collagen Type IX, Dog Diseases, Dogs, Endothelin-2, Female, Frameshift Mutation, Genome-Wide Association Study, Haplotypes, Male, Models, Animal, Mutation, Pedigree, Phenotype, Retina, Retinal Degeneration, Retinitis Pigmentosa, DoGA Consortium, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6gw99412Test

المؤلفون: Hytönen, Marjo K, Viitanen, Sanna, Hundi, Sruthi, Donner, Jonas, Lohi, Hannes, Kaukonen, Maria

المساهمون: Medicum, Veterinary Biosciences, Department of Medical and Clinical Genetics, Equine and Small Animal Medicine, Small Animal Hospital, Hannes Tapani Lohi / Principal Investigator, Helsinki One Health (HOH), Veterinary Genetics

مصطلحات موضوعية: F8, Canine genetics, factor VIII, hemophilia A, Inherited bleeding disorder, 413 Veterinary science, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Hytönen , M K , Viitanen , S , Hundi , S , Donner , J , Lohi , H & Kaukonen , M 2023 , ' A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs ' , Animal Genetics , vol. 54 , no. 5 , pp. 606-612 . https://doi.org/10.1111/age.13345Test; ORCID: /0000-0003-1976-5874/work/142856788; ORCID: /0000-0002-2146-4694/work/142859827; de893e7d-05e9-4dba-aec9-5a86e19884bf; http://hdl.handle.net/10138/565467Test; 001028219900001

الإتاحة: http://hdl.handle.net/10138/565467Test

المؤلفون: the 99 Lives Cat Genome Consortium, Lyons, L. A., Buckley, R. M., Harvey, R. J., Hytönen, Marjo K., Kaukonen, Maria, Lohi, Hannes, Schoenebeck, Jeffrey J.

المساهمون: Medicum, Veterinary Biosciences, Department of Medical and Clinical Genetics, Hannes Tapani Lohi / Principal Investigator, Helsinki One Health (HOH), Veterinary Genetics

مصطلحات موضوعية: Abyssinian, coat pattern, Dickkopf Wnt Signaling Pathway Inhibitor 4, DKK4, Tabby, 413 Veterinary science, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Funding for this project has been provided in part the University of Missouri College of Veterinary Medicine Gilbreath?McLorn endowment (L.A.L.) and Winn Feline Foundation (W16-030, MT18-009, MTW18-009 and MT19-001) in support of the 99 Lives Cat Genome Project (https://www.winnfelinefoundation.orgTest/). We appreciate the provision of cat images by cat breeders and owners to document the tabby phenotypes in domestic cats. We appreciate technical assistance and support with the manuscript from Thomas R. Juba and assistance with figures from Karen Clifford. We thank Dr. S-J Luo for providing the phenotypic data of cats in the SRA. In the 99 Lives Consortium (2020 cat analysis ? 99Lives195/284) the organizer was Leslie A. Lyons and the data analyst was Reuben M. Buckley. Each member of the 99 Lives Consortium (2020 cat analysis ? 99Lives195/284) provided at least one greater than 15? coverage genome of the domestic cat or a wild felid to support the analyses of the dataset.; the 99 Lives Cat Genome Consortium , Lyons , L A , Buckley , R M , Harvey , R J , Hytönen , M K , Kaukonen , M , Lohi , H & Schoenebeck , J J 2021 , ' Mining the 99 Lives Cat Genome Sequencing Consortium database implicates genes and variants for the Ticked locus in domestic cats (Felis catus) ' , Animal Genetics , vol. 52 , no. 3 , pp. 321-332 . https://doi.org/10.1111/age.13059Test; ORCID: /0000-0003-1976-5874/work/145458095; ORCID: /0000-0002-2146-4694/work/145462263; 85106068562; 3c95cc40-5d55-4e1f-8708-4bfda075bba3; http://hdl.handle.net/10138/566209Test; 000634428100001

الإتاحة: http://hdl.handle.net/10138/566209Test

المؤلفون: Hytönen, Marjo K., Viitanen, Sanna, Hundi, Sruthi, Donner, Jonas, Lohi, Hannes, Kaukonen, Maria

المساهمون: Academy of Finland, Helsinki Institute of Life Science, Helsingin Yliopisto, Jane ja Aatos Erkon Säätiö, Sigrid Juséliuksen Säätiö

المصدر: Animal Genetics ; volume 54, issue 5, page 606-612 ; ISSN 0268-9146 1365-2052

الإتاحة: https://doi.org/10.1111/age.13345Test

المؤلفون: Niskanen, Julia E., Ohlsson, Åsa, Ljungvall, Ingrid, Drögemüller, Michaela, Ernst, Robert F., Dooijes, Dennis, van Deutekom, Hanneke W. M., van Tintelen, J. Peter, Snijders Blok, Christian J. B., van Vugt, Marion, van Setten, Jessica, Asselbergs, Folkert W., Petrič, Aleksandra Domanjko, Salonen, Milla, Hundi, Sruthi, Hörtenhuber, Matthias, Daub, Carsten, Araujo, César L., Quintero, Ileana B., Kyöstilä, Kaisa, Kaukonen, Maria, Arumilli, Meharji, Sarviaho, Riika, Puurunen, Jenni, Sulkama, Sini, Karjalainen, Sini, Sukura, Antti, Syrjä, Pernilla, Airas, Niina, Pekkarinen, Henna, Kareinen, Ilona, Javela, Hanna-Maaria, Knuuttila, Anna, Nordgren, Heli, Hagner, Karoliina, Pääkkönen, Tarja, Iivanainen, Antti, Krjutskov, Kaarel, Ezer, Sini, Saarinen, Auli, Katayama, Shintaro, Yoshihara, Masahito, Mukarram, Abdul Kadir, Aljelaify, Rasha Fahad, Ross, Fiona, Raman, Amitha, Stevens, Irene, Gusev, Oleg, Bannasch, Danika, Schoenebeck, Jeffrey J.

المصدر: Genome Medicine ; volume 15, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-023-01221-3Test

المؤلفون: Shamsnajafabadi, Hoda¹ (AUTHOR) hoda.shamsnajafabadi@ndcn.ox.ac.uk, Kaukonen, Maria¹ (AUTHOR), Bellingrath, Julia-Sophia¹ (AUTHOR), MacLaren, Robert E.^1,2 (AUTHOR), Cehajic-Kapetanovic, Jasmina^1,2 (AUTHOR) enquiries@eye.ox.ac.uk

المصدر: Genes. May2024, Vol. 15 Issue 5, p625. 13p.

مصطلحات موضوعية: *GENOME editing, *RETINAL degeneration, *GENETIC variation, *GENETIC testing, *DISEASE progression, *CONOTOXINS

المؤلفون: Kaukonen, Maria, Woods, Sean, Ahonen, Saija, Lemberg, Seppo, Hellman, Maarit, Hytönen, Marjo K, Permi, Perttu, Glaser, Tom, Lohi, Hannes

المصدر: Cell Reports. 23(9)

مصطلحات موضوعية: Biological Sciences, Pediatric, Congenital Structural Anomalies, Eye Disease and Disorders of Vision, Digestive Diseases, Genetics, Nutrition, 2.1 Biological and endogenous factors, Aetiology, Reproductive health and childbirth, Amino Acid Sequence, Animals, Base Pairing, Dogs, Eye Diseases, Female, Genes, Recessive, Genetic Loci, Genotype, HeLa Cells, Humans, Male, Maternal Inheritance, Microphthalmos, Pedigree, Phenotype, Prealbumin, Protein Folding, Retinol-Binding Proteins, Plasma, Sequence Deletion, Vitamin A, Hela Cells, RBP4, canine genetics, congenital eye defect, genome-wide association study, maternal inheritance, microphthalmia, nuclear magnetic resonance, vitamin A, western blotting, whole genome sequencing, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5rd6q428Test

المؤلفون: Mauler, DA, Gandolfi, B, Reinero, CR, O'Brien, DP, Spooner, JL, Lyons, LA, Aberdein, Danielle, Alves, Paulo C, Barsh, Gregory S, Beale, Holly C, Boyko, Adam R, Brockman, Jeffrey A, Castelhano, Marta G, Chan, Patricia P, Matthew Ellinwood, N, Fogle, Jonathan E, Garrick, Dorian J, Helps, Christopher R, Hytönen, Marjo K, Kaukonen, Maria, Kaelin, Christopher B, Leclerc, Emilie, Leeb, Tosso, Lohi, Hannes, Longeri, Maria, Malik, Richard, Montague, Michael J, Munday, John S, Murphy, William J, Pedersen, Niels C, Rothschild, Max F, Stern, Joshua A, Swanson, William F, Terio, Karen A, Todhunter, Rory J, Ueda, Yu, Warren, Wesley C, Wilcox, Elizabeth A, Wildschutte, Julia H

المصدر: Journal of Veterinary Internal Medicine. 31(2)

مصطلحات موضوعية: Genetics, HIV/AIDS, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Animals, Cat Diseases, Cats, Female, Genome, Niemann-Pick Disease, Type C, Precision Medicine, Sequence Analysis, DNA, and 99 Lives Consortium, Felis silvestris catus, NPC1, WGS, Feline, Lysosomal storage, Veterinary Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9p01g094Test

المؤلفون: Farag, Soma, Yusuf, Imran H., Kaukonen, Maria, Taylor, Laura J., Charbel Issa, Peter, MacLaren, Robert E.

المصدر: Ophthalmic Genetics; Apr2024, Vol. 45 Issue 2, p201-206, 6p

مصطلحات موضوعية: RETINITIS pigmentosa, DYSTROPHY, MACULAR degeneration, RETINAL degeneration, MISSENSE mutation, RETINAL imaging