Výsledky vyhledávání - "Päivi J. Laitinen-Forsblom"

Akademický článek

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

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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients

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

Publikováno v: BMC Medical Genetics

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 treatment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a8e48614e139b5abc750fd99f8f69b
https://pubmed.ncbi.nlm.nih.gov/29622001

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Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves

Autor: Heikki Swan, Ilkka Tikkanen, Kimmo Kontula, Michael Pasternack, Jere Paavola, Päivi J. Laitinen-Forsblom, Matti Viitasalo, Lauri Toivonen, Mika Laine

Publikováno v: European Heart Journal. 28:1135-1142

Aims Mutations in cardiac ryanodine receptors (RyR2s) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT), characterized by risk of polymorphic ventricular tachyarrhythmias and sudden death during exercise. Arrhythmias are caus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e0d7a2b2e147f61c3fd82555505073
https://doi.org/10.1093/eurheartj/ehl543

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SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias

Autor: Heikki Mäkynen M.D., Pekka Mäkynen, Vesa Virtanen M.D., Katriina Aalto-Setälä, Sinikka Yli-Mäyry M.D., Kimmo Kontula, Päivi J. Laitinen-Forsblom

Publikováno v: Journal of Cardiovascular Electrophysiology. 17:480-485

SCN5A Mutation. Introduction: We aimed at identifying the molecular defect underlying the clinical phenotype of a Finnish family with a cardiac conduction defect and atrial arrhythmias. Methods and Results: A large Finnish family was clinically evalu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208efb3ef060c6d72219c6226441dedf
https://doi.org/10.1111/j.1540-8167.2006.00411.x

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Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients

Autor: Hugues Abriel, Heidi Fodstad, Saïd Bendahhou, Jacques Barhanin, Heikki Swan, Laurent Schild, Kimmo Kontula, Jean-Sébastien Rougier, Päivi J. Laitinen-Forsblom

Publikováno v: Annals of Medicine
Annals of Medicine, Taylor & Francis, 2006, 38 (4), pp.294-304. ⟨10.1080/07853890600756065⟩

BACKGROUND: Mutations of at least six different genes have been found to cause long QT syndrome (LQTS), an inherited arrhythmic disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), ventricular arrhythmias and risk of sudd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::284032ea9715f379df4c2ba8e4044355
https://doi.org/10.1080/07853890600756065

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0265: A novel SCN5A mutation associated with exercise-induced polymorphic ventricular arrhythmias resembling CPVT

Autor: Aarno Palotie, Elisabeth Widen, Heikki Swan, Päivi J. Laitinen-Forsblom, Annukka M. Lahtinen, Lauri Toivonen, Hugues Abriel, Mohamed Yassine Amarouch, Jaakko T. Leinonen, Jan P. Kucera, Kimmo Kontula, Annukka Marjamaa

Publikováno v: Archives of Cardiovascular Diseases Supplements. 6:41-42

Cardiac sodium channel is a complex which includes the poreforming alpha subunit and regulatory proteins that allow sodium influx during the depolarization phase of the ventricular action potential. The alpha subunit, Nav1.5, is encoded by SCN5A . Mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d73b9a860a2840d2f3117b5bde84ba
https://doi.org/10.1016/s1878-6480(14)71376-x

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Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype

Autor: Antony A. Cooper, Jonathan R. Skinner, JingTing Zhao, Heikki Swan, Anthony Varghese, Mark I. Rees, Terence J. Campbell, Päivi J. Laitinen-Forsblom, Adam P. Hill, Jamie I. Vandenberg

Publikováno v: Journal of cardiovascular electrophysiology. 20(8)

Distinct Phenotypes in hERG Pore Domain Mutations. Introduction: Mutations in the pore domain of the human ether-a-go-go-related gene (hERG) potassium channel are associated with higher risk of sudden death. However, in many kindreds clinical present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::169717da3cab1abad5198788a3549e88
https://pubmed.ncbi.nlm.nih.gov/19490267

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Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro

Autor: Anetta Wronska, Heikki Swan, Annukka Marjamaa, Kimmo Kontula, Päivi J. Laitinen-Forsblom, Lauri Toivonen

Publikováno v: International journal of cardiology. 147(2)

Background Catecholaminergic polymorphic ventricular tachycardia caused by mutations in the RyR2 gene manifests as severe arrhythmias, and may provide a candidate for sudden cardiac deaths. Methods We screened 19 victims of SCD for mutations in the R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::073e6a4d5d7e3b86107ac825378f24ef
https://pubmed.ncbi.nlm.nih.gov/19781797

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Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes

Autor: Heikki Swan, Kimmo Kontula, Annukka Lehtonen, Heidi Fodstad, Päivi J. Laitinen-Forsblom, Lauri Toivonen

Publikováno v: Heart rhythm. 4(5)

Background Pathophysiologically significant ion-channel mutations have been detected in only a minority of cases of acquired long QT syndrome (LQTS). Objective The aim of this study was to clarify the putative role of subclinical inherited LQTS in dr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55204fc3439fea8783ca163536cb908a
https://pubmed.ncbi.nlm.nih.gov/17467629

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Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

Autor: Heikki Swan, Päivi J. Laitinen-Forsblom, Annukka M. Lahtinen, Lauri Toivonen, Annukka Marjamaa, Matti Viitasalo, Kimmo Kontula

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 10, Iss 1, p 12 (2009)

Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a564fd955d74cdbd63069dea7ebffb8b

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