Kyöstilä K - Search Results

1

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.

Anderson H, Davison S, Lytle KM, Honkanen L, Freyer J, Mathlin J, Kyöstilä K, Inman L, Louviere A, Chodroff Foran R, Forman OP, Lohi H, Donner J. Anderson H, et al. Among authors: kyostila k. PLoS Genet. 2022 Jun 16;18(6):e1009804. doi: 10.1371/journal.pgen.1009804. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35709088 Free PMC article.

2

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

Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. Kyöstilä K, et al. PLoS Genet. 2012;8(6):e1002759. doi: 10.1371/journal.pgen.1002759. Epub 2012 Jun 14. PLoS Genet. 2012. PMID: 22719266 Free PMC article.

3

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

Kyöstilä K, Lappalainen AK, Lohi H. Kyöstilä K, et al. PLoS One. 2013 Sep 25;8(9):e75621. doi: 10.1371/journal.pone.0075621. eCollection 2013. PLoS One. 2013. PMID: 24086591 Free PMC article.

4

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

Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. Kyöstilä K, et al. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25875846 Free PMC article.

5

Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.

Wu W, Patel A, Kyöstilä K, Lohi H, Mladkova N, Kiryluk K, Sun X, Lefkowitch JH, Worman HJ, Gharavi AG. Wu W, et al. Among authors: kyostila k. Hepatology. 2016 Jun;63(6):1943-56. doi: 10.1002/hep.28495. Epub 2016 Mar 24. Hepatology. 2016. PMID: 26857093

6

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, Möller F, Kyöstilä K, Sankari S, Hytönen M, Giger U, Lohi H. Donner J, et al. Among authors: kyostila k. PLoS One. 2016 Aug 15;11(8):e0161005. doi: 10.1371/journal.pone.0161005. eCollection 2016. PLoS One. 2016. PMID: 27525650 Free PMC article.

7

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia.

Kyöstilä K, Syrjä P, Lappalainen AK, Arumilli M, Hundi S, Karkamo V, Viitmaa R, Hytönen MK, Lohi H. Kyöstilä K, et al. Sci Rep. 2019 Jan 30;9(1):973. doi: 10.1038/s41598-018-37801-2. Sci Rep. 2019. PMID: 30700765 Free PMC article.

8

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.

Anderegg L, Im Hof Gut M, Hetzel U, Howerth EW, Leuthard F, Kyöstilä K, Lohi H, Pettitt L, Mellersh C, Minor KM, Mickelson JR, Batcher K, Bannasch D, Jagannathan V, Leeb T. Anderegg L, et al. Among authors: kyostila k. PLoS Genet. 2019 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. eCollection 2019 Sep. PLoS Genet. 2019. PMID: 31479451 Free PMC article.

9

TSEN54 missense variant in Standard Schnauzers with leukodystrophy.

Störk T, Nessler J, Anderegg L, Hünerfauth E, Schmutz I, Jagannathan V, Kyöstilä K, Lohi H, Baumgärtner W, Tipold A, Leeb T. Störk T, et al. Among authors: kyostila k. PLoS Genet. 2019 Oct 4;15(10):e1008411. doi: 10.1371/journal.pgen.1008411. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31584937 Free PMC article.

10

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

Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyöstilä K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Jenkins CA, et al. Among authors: kyostila k. PLoS Genet. 2020 Jan 30;16(1):e1008527. doi: 10.1371/journal.pgen.1008527. eCollection 2020 Jan. PLoS Genet. 2020. PMID: 31999692 Free PMC article.

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