Publications 1996 2019

Filter
Article
2019

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

Hytönen, M. K. & Lohi, H., May 2019, In : Human Genetics. 138, 5, p. 535-539 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
Open Access
File

A novel KRT71 variant in curly-coated dogs

Salmela, E., Niskanen, J., Arumilli, M., Donner, J., Lohi, H. & Hytönen, M. K., Feb 2019, In : Animal Genetics. 50, 1, p. 101-104 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Association between dog ownership and type 2 diabetes in later life: the Helsinki birth cohort study

Laine, M. K., Wasenius, N. S., Lohi, H., Simonen, M., Tiira, K., Eriksson, J. G. & Salonen, M. K., 1 Jan 2019, In : International Journal of Circumpolar Health. 78, 1, 6 p., 1611328.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Breed differences of heritable behaviour traits in cats

Salonen, M., Vapalahti, K., Tiira, K., Maki-Tanila, A. & Lohi, H., 28 May 2019, In : Scientific Reports. 9, 10 p., 7949.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Breed-specific reference ranges for standard echocardiographic measurements in salukis

Giraut, S., Häggström, J., Koskinen, L. L. E., Lohi, H. & Wiberg, M., Jun 2019, In : Journal of Small Animal Practice. 60, 6, p. 374-378 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

Hytönen, M. K., Arumilli, M., Sarkiala, E., Nieminen, P. & Lohi, H., May 2019, In : Human Genetics. 138, 5, p. 525-533 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

Anderegg, L., Im Hof Gut, M., Hetzel, U., Howerth, E. W., Leuthard, F., Kyöstilä, K., Lohi, H., Pettitt, L., Mellersh, C., Minor, K. M., Mickelson, J. R., Batcher, K., Bannasch, D., Jagannathan, V. & Leeb, T., 3 Sep 2019, In : PLoS Genetics. 15, 9, 16 p., 1008378.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

Gershony, L. C., Belanger, J. M., Hytönen, M. K., Lohi, H. & Oberbauer, A. M., Sep 2019, In : Genes. 10, 9, 12 p., 635.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Novel protective and risk loci in hip dysplasia in German Shepherds

Mikkola, L., Holopainen, S., Lappalainen, A., Pessa-Morikawa, T., Pulikotial Augustine, T., Arumilli, M., Hytönen, M. K., Hakosalo, O. T. V., Lohi, H. & Iivanainen, A., 19 Jul 2019, In : PLoS Genetics. 15, 7, 30 p., 1008197.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

Hitti, R. J., Oliver, J. A. C., Schofield, E. C., Bauer, A., Kaukonen, M., Forman, O. P., Leeb, T., Lohi, H., Burmeister, L. M., Sargan, D. & Mellersh, C. S., May 2019, In : Genes. 10, 5, 17 p., 385.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2018

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs

Wielaender, F., James, F. M. K., Cortez, M. A., Kluger, G., Nessler, J. N., Tipold, A., Lohi, H. & Fischer, A., 2018, In : Journal of Veterinary Internal Medicine. 32, 1, p. 428-432 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs

Dillard, K. J., Hytönen, M. K., Fischer, D., Tanhuanpää, K., Lehti, M. S., Vainio-Siukola, K., Sironen, A. & Anttila, M., 20 Sep 2018, In : PLoS One. 13, 9, 18 p., 0204073.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Holden, L. A., Arumilli, M., Hytonen, M. K., Hundi, S., Salojärvi, J., Brown, K. H. & Lohi, H., 18 Jul 2018, In : Scientific Reports. 8, 11 p., 10862.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Fearful dogs have increased plasma glutamine and gamma-glutamyl glutamine

Puurunen, J., Tiira, K., Vapalahti, K., Lehtonen, M., Hanhineva, K. & Lohi, H., 29 Oct 2018, In : Scientific Reports. 8, 12 p., 15976.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Interbreed variation of biomarkers of lipid and glucose metabolism in dogs

Gomez-Fernandez-Blanco, C., Peeters, D., Moyse, E., Farnir, F., Höglund, K., Gouni, V., Wiberg, M., Willesen, J. L., Hanas, S., McEntee, K., Tiret, L., Häggström, J., Lohi, H., Chetboul, V., Fredholm, M., Seppälä, E. H., Lequarre, A-S. & Merveille, A-C., Dec 2018, In : Veterinary Clinical Pathology. 47, 4, p. 582-588 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

Kaukonen, M., Woods, S., Ahonen, S., Lemberg, S., Hellman, M., Hytönen, M. K., Permi, P., Glaser, T. & Lohi, H., 29 May 2018, In : Cell Reports. 23, 9, p. 2643-2652 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

MKLN1 splicing defect in dogs with lethal acrodermatitis

Bauer, A., Jagannathan, V., Hoegler, S., Richter, B., McEwan, N. A., Thomas, A., Cadieu, E., Andre, C., Hytonen, M. K., Lohi, H., Welle, M. M., Roosje, P., Mellersh, C., Casal, M. L. & Leeb, T., Mar 2018, In : PLoS Genetics. 14, 3, 14 p., 1007264.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Myotonia congenita in a Labrador Retriever with truncated CLCN1

Quitt, P. R., Hytönen, M. K., Matiasek, K., Rosati, M., Fischer, A. & Lohi, H., Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 597-605 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

Dürig, N., Letko, A., Lepori, V., Rasouliha, S. H., Loechel, R., Kehl, A., Hytönen, M. K., Lohi, H., Mauri, N., Dietrich, J., Wiedmer, M., Drogemuller, M., Jagannathan, V., Schmutz, S. M. & Leeb, T., Aug 2018, In : Animal Genetics. 49, 4, p. 284-290 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Urban environment predisposes dogs and their owners to allergic symptoms

Hakanen, E., Lehtimäki, J., Salmela, E., Tiira, K., Anturaniemi, J., Hielm-Björkman, A., Ruokolainen, L. & Lohi, H., 25 Jan 2018, In : Scientific Reports. 8, 9 p., 1585.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2017

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy

Chew, T., Haase, B., Bathgate, R., Willet, C. E., Kaukonen, M. K., Mascord, L. J., Lohi, H. T. & Wade, C. M., Jul 2017, In : G3 - Genes genomes genetics. 7, 7, p. 2327-2335 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

ADAM23 is a common risk gene for canine idiopathic epilepsy

Koskinen, L. L. E., Seppala, E. H., Weissl, J., Jokinen, T. S., Viitmaa, R., Hanninen, R. L., Quignon, P., Fischer, A., Andre, C. & Lohi, H., 31 Jan 2017, In : BMC Genetics. 18, 5 p., 8.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats

99 Lives Consortium, Feb 2017, In : Mammalian Genome. 28, 1-2, p. 47-55 9 p.

Research output: Contribution to journalArticleScientificpeer-review

AncesTrim – a tool for trimming complex pedigrees

Niskanen, J. E., Salmela, E. T. & Lohi, H. T., 2017, In : Journal of open source software. 2, 11, 170.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs

Everson, R., Pettitt, L., Forman, O. P., Dower-Tylee, O., McLaughlin, B., Ahonen, S., Kaukonen, M., Komaromy, A. M., Lohi, H., Mellersh, C. S., Sansom, J. & Ricketts, S. L., 16 Aug 2017, In : PLoS One. 12, 8, 14 p., 0183021.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Holopainen, S., Hytonen, M. K., Syrja, P., Arumilli, M., Jarvinen, A-K., Rajamaki, M. & Lohi, H., Feb 2017, In : PLoS Genetics. 13, 2, 12 p., 1006625.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Association study reveals novel risk loci for sporadic inclusion body myositis

Johari, M., Arumilli, M., Palmio, J., Savarese, M., Tasca, G., Mirabella, M., Sandholm, N., Lohi, H., Hackman, P. & Udd, B., Apr 2017, In : European Journal of Neurology. 24, 4, p. 572-577 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Basal Autophagy is altered in Lagotto Romagnolo Dogs with an ATG4D mutation

Syrjä, P., Anwar, T., Pääkkönen, T., Kyöstilä, K., Hultin Jäderlund, K., Cozzi, F., Rohdin, C., Hahn, K., Wohlsein, P., Baumgärtner, W., Henke, D., Oevermann, A., Sukura, A., Leeb, T., Lohi, H. & Eskelinen, E-L., Nov 2017, In : Veterinary Pathology. 54, 6, p. 953-963 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development

Nowacka-Woszuk, J., Szczerbal, I., Pausch, H., Hundi, S., Hytönen, M. K., Grzemski, A., Flisikowski, K., Lohi, H., Switonski, M. & Szydlowski, M., Jun 2017, In : Animal Genetics. 48, 3, p. 330-337 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Diagnostic Utility of Wireless Video-Electroencephalography in Unsedated Dogs

James, F. M. K., Cortez, M. A., Monteith, G., Jokinen, T. S., Sanders, S., Wielaender, F., Fischer, A. & Lohi, H., 2017, In : Journal of Veterinary Internal Medicine. 31, 5, p. 1469-1476 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes)

99 Lives Consortium & Lohi, H., 21 Mar 2017, In : Scientific Reports. 7, 12 p., 43918.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Early weaning increases aggression and stereotypic behaviour in cats

Ahola, M. K., Vapalahti, K. & Lohi, H., 4 Sep 2017, In : Scientific Reports. 7, 9 p., 10412.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Cox, M. L., Evans, J. M., Davis, A. G., Guo, L. T., Levy, J. R., Starr-Moss, A. N., Salmela, E., Hytonen, M. K., Lohi, H., Campbell, K. P., Clark, L. A. & Shelton, G. D., 11 Jul 2017, In : Skeletal Muscle. 7, 9 p., 15.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome

Wucher, V., Legeai, F., Hedan, B., Rizk, G., Lagoutte, L., Leeb, T., Jagannathan, V., Cadieu, E., David, A., Lohi, H., Cirera, S., Fredholm, M., Botherel, N., Leegwater, P. A. J., Le Beguec, C., Fieten, H., Johnson, J., Alfoldi, J., Andre, C., Lindblad-Toh, K. & 2 others, Hitte, C. & Derrien, T., 5 May 2017, In : Nucleic Acids Research. 45, 8, 12 p., e57.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Wielaender, F., Sarviaho, R., James, F., Hytönen, M., Cortez, M., Kluger, G., Koskinen, L., Arumilli, M., Kornberg, M., Bathen-Noethen, A., Tipold, A., Rentmeister, K., Bhatti, S., Huelsmeyer, V., Boettcher, I. C., Taestensen, C., Flegel, T., Dietschi, E., Leeb, T., Matiasek, K. & 2 others, Fischer, A. & Lohi, H., 7 Mar 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 10, p. 2669-2674 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing

Mauler, D. A., Gandolfi, B., Reinero, C. R., O'Brien, D. P., Spooner, J. L., Lyons, L. A., 99 Lives Consortium & Lohi, H., 2017, In : Journal of Veterinary Internal Medicine. 31, 2, p. 539-544 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Toxoplasma gondii seroprevalence varies by cat breed

Must, K., Hytonen, M. K., Orro, T., Lohi, H. & Jokelainen, P., 8 Sep 2017, In : PLoS One. 12, 9, 10 p., 0184659.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2016

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

Pausch, H., Venhoranta, H., Wurmser, C., Hakala, K., Iso-Touru, T., Sironen, A., Vingborg, R. K., Lohi, H., Soderquist, L., Fries, R. & Andersson, M., 29 Feb 2016, In : BMC Genetics. 17, 9 p., 49.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A non-targeted metabolite profiling pilot study suggests that tryptophan and lipid metabolisms are linked with ADHD-like behaviours in dogs

Puurunen, J., Sulkama, S., Tiira, K., Araujo, C., Lehtonen, M., Hanhineva, K. & Lohi, H., 29 Sep 2016, In : Behavioral and Brain Functions. 12, 13 p., 27.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Domesticated Animal Biobanking: Land of Opportunity

Groeneveld, L. F., Gregusson, S., Guldbrandtsen, B., Hiemstra, S. J., Hveem, K., Kantanen, J., Lohi, H., Stroemstedt, L. & Berg, P., Jul 2016, In : PLoS Biology. 14, 7, 6 p., 1002523.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders

Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U. & Lohi, H., 15 Aug 2016, In : PLoS One. 11, 8, 18 p., 0161005.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Genome-wide Association Study in Mice Identifies Loci Affecting Liver-Related Phenotypes Including Sel1l Influencing Serum Bile Acids

Wu, W., Patel, A., Kyostila, K., Lohi, H., Mladkova, N., Kiryluk, K., Sun, X., Lefkowitch, J. H., Worman, H. J. & Gharavi, A. G., Jun 2016, In : Hepatology. 63, 6, p. 1943-1956 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Health and behavioral survey of over 8000 Finnish cats

Vapalahti, K., Virtala, A. M., Joensuu, T. A., Tiira, K., Tahtinen, J. & Lohi, H., 2016, In : Frontiers in Veterinary Science. 3, 16 p., 70.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

Wang, J., Skoog, T., Einarsdottir, E., Kaartokallio, T., Laivuori, H., Grauers, A., Gerdhem, P., Hytonen, M., Lohi, H., Kere, J. & Jiao, H., 16 Sep 2016, In : Scientific Reports. 6, 11 p., 33256.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Mitä koirien geenit ovat meille opettaneet?

Lohi, H., 2016, In : Duodecim. 132, 13-14, p. 1201-1202 2 p.

Research output: Contribution to journalArticleProfessional

Open Access
File

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Hytönen, M. K., Arumilli, M., Lappalainen, A. K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C. & Lohi, H., 17 May 2016, In : PLoS Genetics. 12, 5, 20 p., e1006037.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

No evidence of prenatal diversifying selection at locus or supertype levels in the dog MHC class II loci

Niskanen, A. K., Kennedy, L. J., Lohi, H., Aspi, J. & Pyhäjärvi, T., 18 Nov 2016, In : Canine Genetics and Epidemiology. 3, 12 p., 9.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Non-targeted metabolite profiling reveals changes in oxidative stress, tryptophan and lipid metabolisms in fearful dogs

Puurunen, J., Tiira, K. A., Lehtonen, M., Hanhineva, K. & Lohi, H. T., 12 Feb 2016, In : Behavioral and Brain Functions. 12, 12 p., 7.

Research output: Contribution to journalArticleScientificpeer-review

File