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Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.

First published description of the causal variant. Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed reference: 11137458.

Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. : The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.

Dierks, C., Mömke, S., Philipp, U., Distl, O. : Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs. Anim Genet 44:425-31, 2013. Pubmed reference: 23384345. DOI: 10.1111/age.12010.

First published description of the causal variant. Housley, DJ., Venta, PJ. : The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability. Anim Genet 37:309-15, 2006. Pubmed reference: 16879338. DOI: 10.1111/j.1365-2052.2006.01448.x.

Nichols, T.C., Hough, C., Agersø, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies. J Thromb Haemost 14:894-905, 2016. Pubmed reference: 26924758. DOI: 10.1111/jth.13301.

Brinkhous, K.M., Hedner, U., Garris, J.B., Diness, V., Read, M.S. : Effect of recombinant factor VIIa on the hemostatic defect in dogs with hemophilia A, hemophilia B, and von Willebrand disease. Proc Natl Acad Sci U S A 86:1382-6, 1989. Pubmed reference: 2784006.

First published description of the causal variant. Evans, J.P., Brinkhous, K.M., Brayer, G.D., Reisner, H.M., High, K.A. : Canine Hemophilia-B Resulting from a Point Mutation with Unusual Consequences Proceedings of the National Academy of Sciences of the United States of America 86:10095-10099, 1989. Pubmed reference: 2481310.

Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistry 271:20070-20074, 1996. Pubmed reference: 8702726.

Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x

First published description of the causal variant. Inal Gultekin, G., Raj, K., Lehman, S., Hillström, A., Giger, U. : Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes 26:243-7, 2012. Pubmed reference: 22446493. DOI: 10.1016/j.mcp.2012.02.004.

First published description of the causal variant. Kishnani, P.S., Bao, Y., Wu, J.Y., Brix, A.E., Lin, J.L., Chen, Y.T.: Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med 61:168-77, 1997. Pubmed reference: 9259982.

Ahonen, Saija & Kaukonen, Maria & Nussdorfer, Forrest & D Harman, Christine & Komaromy, Andras & Lohi, Hannes. (2014). A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma. PloS one. 9. e111941. 10.1371/journal.pone.0111941.

First published description of the causal variant. Kuchtey, J., Olson, L.M., Rinkoski, T., Mackay, E.O., Iverson, T.M., Gelatt, K.N., Haines, J.L., Kuchtey, R.W. : Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. PLoS Genet 7:e1001306, 2011. Pubmed reference: 21379321. DOI: 10.1371/journal.pgen.1001306.

Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000. Pubmed reference: 11032334

Breed-specific reference: Alaskan huskies Kreutzer, R., Leeb, T., Muller, G., Moritz, A., Baumgartner, W. :A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed reference: 15944348. DOI: 10.1534/genetics.105.042580.

First published description of the causal variant. Yamato, O., Ochiai, K., Masuoka, Y., Hayashida, E., Tajima, M., Omae, S., Iijima, M., Umemura, T., Maede, Y. :GM1 gangliosidosis in shiba dogs Veterinary Record 146:493-496, 2000. Pubmed reference: 10887996.

Carlstrom, LP., Jens, JK., Dobyns, ME., Passage, M., Dickson, PI., Ellinwood, NM. : Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med 59:378-82, 2009. Pubmed reference: 19712579.

First published description of the causal variant. Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost 2006; 4: 261622.

Taylor, SM., Shmon, CL., Shelton, GD., Patterson, EN., Minor, K., Mickelson, JR. : Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability. J Am Anim Hosp Assoc 44:295-301, 2008. Pubmed reference: 18981194.

First published description of the causal variant. Patterson, EE., Minor, KM., Tchernatynskaia, AV., Taylor, SM., Shelton, GD., Ekenstedt, KJ., Mickelson, JR. : A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet 40:1235-9, 2008. Pubmed reference: 18806795. DOI: 10.1038/ng.224.

Breed/type-specific reference: Central Asian Shepherd dogs Niskanen, J., Dillard, K., Arumilli, M., Salmela, E., Anttila, M., Lohi, H., Hytónen, M.K. : Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One 12:e0177527, 2017.

Dystrophic epidermolysis bullosa Palazzi, X., Marchal, T., Chabanne, L., Spadafora, A., Magnol, J.P., Meneguzzi, G. : Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology 115:135-137, 2000. Pubmed reference: 10886525. DOI: 10.1046/j.1523-1747.2000.00031-5.x.

First published description of the causal variant. Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109.