Publications

In this page you can find information about the scientific publications in which our group has participated.

A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds. Seppälä EH, Reuser AJJ, Lohi H, PLoS ONE 2013, 8(2): e56825.

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs. Seppälä EH, Koskinen LLE, Gulløv CH, Jokinen P, Karlskov-Mortensen P, et al. PLoS ONE 2012, 7(3): e33549.

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs. Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H.PLoS Genet. 2011 Jul;7(7):e1002194. Epub 2011 Jul 28.

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan Terriers. Farias FHG, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Lindblad-Toh K, Wade CM, O’Brien DP and Katz ML. Neurobiol Dis. 2011 Jun;42(3):468-74.

Segregation of Point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees. Klütsch CFC, Seppälä EH, Uhlén M, Lohi H and Savolainen P.Int J Legal Med, 2010 Nov 4.  

Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3) in Lapponian Herders. Zangerl B, Wickström K, Savik J, Lindauer SJ, Ahonen S, Schelling C, Guziewicz KE, Lohi H, Aguirre GD. Mol Vision, in press, 2010.

A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus). Flisikowski K, Venhoranta H, Nowacka-Woszuk J, MacKay SD, Flyckt A, Taponen J, Schnabel RD, Schwarzenbacher R, Szczerbal I, Lohi H, Fries R, Taylor JF, Switonski Mand Andersson M. PlosGenetics, Nov 30, 2010.

MHC class II risk haplotype associated with canine chronic superficial keratitis in German Shepherd Dogs. Jokinen P, Rusanen E, Kennedy L and Lohi H. Vet Immunol Immunopathol. 140(1-2):37-41, 2011.

Phosphorylation leads to the polyglucosan transport defect underlying Lafora epilepsy. Girard J-M, Scellig SDS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Zhao X, Frankland P and Minassian BA. PlosGenet, in press, 2011.

Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Short AD, Mellersh CS, Platt H, Dunn A, Boulton S, Carter SD, Timofte D, Lohi H and Ollier WER. Vet Rec. 167: 455-457, 2010.  

An ADAMTS17 Splice Donor Mutation in Dogs with Primary Lens Luxation. Farias FHG, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O’Leary CA, Pettitt L, Forman O, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, and Mellersh C. Invest Ophthal and Vis Science, 51(9):4716-21, 2010.

Association of Doberman Hepatitis to Canine Major Histocompatibility Complex II. Dyggve H, Kennedy LJ, Meri S, Spillmann T,Lohi H* and  Speeti M* Tissue Antigens, 77(1):30-5, 2011.

DLA three locus class II haplotypes in four dog breeds with limited geographical distributions. Kennedy LJ*, Niskanen A*, Ollier WER and Lohi H. Submitted to Tissue Antigens, 2009.

Regional occurrence, high frequency but low diversity of mitochondrial DNA haplogroup d1 suggests a recent wolf-dog hybridization in Scandinavia. Klütsch C, Seppälä EH, Fall T, Uhlén M, Hedhammar Å, Lohi H and Savolainen P., Anim Genet, 2010.

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Wilbe M, Jokinen P, Truvé K, Seppala E, Karlsson E, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H*, Lohi H* and Lindblad-Toh K* Nat Genet, 2010, 42(3):250-4.

Association of a dog leukocyte antigen class II haplotype withhypoadrenocorticism in Nova Scotia Duck Tolling Retrievers. Hughes AM*, Jokinen P*, Bannasch DL, Lohi H, Oberbauer AM. Tissue Antigens, 75(6):684-90, 2010.

Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies. Ke X, Kennedy LJ, Short SM, Seppälä EH, Barnes A, Clements DN, Wooda SH, Carter SD, Happe GM, Lohi H, Ollier WER. Anim Genet, 2010 Nov 11.

Mutation In HSF4 Is Associated With Hereditary Cataract In The Australian Shepherd. Mellersh C, McLaughlin B, Ahonen S, Pettitt L, Lohi H and Barnett K. Vet Opht, 12(6):372-8, 2009.

MHC class II polymorphism is associated with a canine SLE-related disease complex. Wilbe M, Jokinen P, Hermanrud C, Kennedy LJ, Strandberg E, Hansson-Hamlin H, Lohi H* and Göran Andersson*. Immunogenet, 61(8):557-64, 2009.

Ancestral T-box mutation is present in many but not all short-tailed dog breeds. Hytönen MK*, Grall A*, Hédan B, Dréano S, Seguin SJ, Delattre D, Thomas A, Galibert F, Paulin L, Lohi H, Sainio K and André C.J Hered 2009:100(2):236–240.

A mutation in hairless dogs implicates FOXI3 in ectodermal development. Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K & Leeb T. Science 321(5895):1462, 2008.

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu M, Wilson C, Lahtinen U, Anttonen A-K, Lehesjoki A-E. Am J Hum Genet, 81(1):136-46, 2007.  

Risk of Anal Furunculosis in German Shepherd dogs is associated with the Major Histocompatibility Complex. Kennedy LJ, O’Neill T, House A, Barnes A, Kyöstilä K, Innes J, Fretwell N, Day MJ, Catchpole B, Lohi H and Ollier WER., Tissue Antigens, 71(1):51-6, 2008.

Benign Familial Juvenile Epilepsy in Lagotto Romagnolo Dogs. Jokinen T, Metsahonkala L, Bergamasco L-A, Viitmaa R, Syrja P, Lohi H, Snellman M, Jeserevics J, and Cizinauskas S., J Vet Int Med, 21(3):464-71,2007.

Expanded repeat in canine epilepsy. Lohi H, Young EJ , Fitzmaurice S, Rusbridge C, Chan, Vervoort M, Turnbull J, Ianzano L, Paterson AD, Sutter N, Ostrander EA, Andre C, Shelton DG, Ackerley CA, Scherer SW, Minassian BA. (2005) Science, 307:81.