Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.

by Kaisa Kyöstilä, Anu K Lappalainen, Hannes Lohi
Published 2013-01-01

An across-breed validation study of 46 genetic markers in canine hip dysplasia

by Lea Mikkola, Kaisa Kyöstilä, Jonas Donner, Anu K. Lappalainen, Marjo K. Hytönen, Hannes Lohi, Antti Iivanainen
Published 2021-01-01

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.

by Kaisa Kyöstilä, Sigitas Cizinauskas, Eija H Seppälä, Esko Suhonen, Janis Jeserevics, Antti Sukura, Pernilla Syrjä, Hannes Lohi
Published 2012-01-01

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

by Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
Published 2016-01-01

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs.

by Kati J Dillard, Matthias Ochs, Julia E Niskanen, Meharji Arumilli, Jonas Donner, Kaisa Kyöstilä, Marjo K Hytönen, Marjukka Anttila, Hannes Lohi
Published 2020-03-01

TSEN54 missense variant in Standard Schnauzers with leukodystrophy.

by Theresa Störk, Jasmin Nessler, Linda Anderegg, Enrice Hünerfauth, Isabelle Schmutz, Vidhya Jagannathan, Kaisa Kyöstilä, Hannes Lohi, Wolfgang Baumgärtner, Andrea Tipold, Tosso Leeb
Published 2019-10-01

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.

by Christopher A Jenkins, Lajos Kalmar, Kaspar Matiasek, Lorenzo Mari, Kaisa Kyöstilä, Hannes Lohi, Ellen C Schofield, Cathryn S Mellersh, Luisa De Risio, Sally L Ricketts
Published 2020-01-01

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.

by Maria Kaukonen, Ileana B Quintero, Abdul Kadir Mukarram, Marjo K Hytönen, Saila Holopainen, Kaisa Wickström, Kaisa Kyöstilä, Meharji Arumilli, Sari Jalomäki, Carsten O Daub, Juha Kere, Hannes Lohi, DoGA Consortium
Published 2020-03-01

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.

by Linda Anderegg, Michelle Im Hof Gut, Udo Hetzel, Elizabeth W Howerth, Fabienne Leuthard, Kaisa Kyöstilä, Hannes Lohi, Louise Pettitt, Cathryn Mellersh, Katie M Minor, James R Mickelson, Kevin Batcher, Danika Bannasch, Vidhya Jagannathan, Tosso Leeb
Published 2019-09-01

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.

by Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S Jokinen, Eija H Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H Jäderlund, Anu K Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb
Published 2015-04-01