Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation.

Autor: Mikael Koponen, Annukka Marjamaa, Annukka M Tuiskula, Matti Viitasalo, Terhi Nallinmaa-Luoto, Jaakko T Leinonen, Elisabeth Widen, Lauri Toivonen, Kimmo Kontula, Heikki Swan

Publikováno v: PLoS ONE, Vol 15, Iss 12, p e0243649 (2020)

BackgroundCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmic disease associated with a risk of syncope and sudden cardiac death (SCD).AimsWe aimed at identifying RYR2 P2328S founder mutation carriers and des

Externí odkaz: https://doaj.org/article/470e2d0e33d746a095d07596dde9750c

Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation

Autor: Elisabeth Widen, Mikael Koponen, Matti Viitasalo, Heikki Swan, Jaakko T. Leinonen, Terhi Nallinmaa-Luoto, Annukka M. Tuiskula, Lauri Toivonen, Kimmo Kontula, Annukka Marjamaa

Publikováno v: PLoS ONE
PLoS ONE, Vol 15, Iss 12, p e0243649 (2020)

Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmic disease associated with a risk of syncope and sudden cardiac death (SCD). Aims We aimed at identifying RYR2 P2328S founder mutation carriers and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647bd482872f5cdfa4de30e0c049b926
http://hdl.handle.net/10138/324591

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

Autor: Veronique Vitart, Shona M. Kerr, Javier Santoyo-Lopez, Caroline Hayward, Alison M. Meynert, Colin A. Semple, Heikki Swan, James F. Wilson, Timothy J. Aitman, Zosia Miedzybrodzka, Chris Haley, Mihail Halachev, John Dean, Annukka M. Tuiskula, Thibaud Boutin, Lucija Klaric

Publikováno v: Kerr, S, Klaric, L, Halachev, M, Hayward, C, Boutin, T, Meynert, A M, Semple, C A, Tuiskula, A M, Swan, H, Santoyo-Lopez, J, Vitart, V, Haley, C, Dean, J, Miedzybrodzka, Z, Aitman, T J & Wilson, J F 2019, ' An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort ', Scientific Reports, vol. 9, 10964 . https://doi.org/10.1038/s41598-019-47436-6
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)

The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern Scotland. The high kinship and detailed phenotype data support a range of approaches for associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54452fd64d8686cd318b0a2320b69ae9
https://www.pure.ed.ac.uk/ws/files/104875868/s41598_019_47436_6.pdf

Replicated evidence for aminoacylase 3 and nephrin gene variations to predict antihypertensive drug responses

Autor: Kati Donner, Steven M. Stirdivant, Robert P. Mohney, Frej Fyhrquist, Antti-Pekka Sarin, Annukka M. Tuiskula, Jenni M. Rimpela, Kimmo Kontula, Timo P. Hiltunen

Publikováno v: Pharmacogenomics. 18(5)

Aim: To replicate the genome-wide associations of the antihypertensive effects of bisoprolol and losartan in GENRES, using the Finnish patients of LIFE study. Patients & methods: We analyzed association of four SNPs with atenolol and three SNPs with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b119112d4eff0add8121c35c299896c
https://pubmed.ncbi.nlm.nih.gov/28353407

Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients

Autor: Mikael Koponen, Aki S. Havulinna, Annukka Marjamaa, Annukka M. Tuiskula, Veikko Salomaa, Päivi J. Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo, Heikki Swan

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)

Abstract Background Long QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not receiving β-blocker

Externí odkaz: https://doaj.org/article/c4d962fd6c064d2a9cf34eae62912c71