Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Maija, Kaartinen"'
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
Autor:
Helena Kervinen, Paavo Uusimaa, Juhani Junttila, Tiina Heliö, Mari Niemi, Joose Raivo, Maija Kaartinen, John Melin, Ilkka Mahonen, Markku Laakso, Johanna Kuusisto, Liisa Hämäläinen, Heini Jyrkila, Matti Kotila, Paula Vartia, Markku S. Nieminen, Erkki Ilveskoski, Mikko Pietilä, Teemu Kuulasmaa, Jukka Juvonen, Pertti Jääskeläinen, FinHCM Study Grp, Jagadish Vangipurapu, Juha Mustonen, Sari U. M. Vanninen, Jorma Kokkonen, Katriina Aalto-Setälä
Publikováno v:
ESC Heart Failure
Aims Nationwide large-scale genetic and outcome studies in cohorts with hypertrophic cardiomyopathy (HCM) have not been previously published. Methods and results We sequenced 59 cardiomyopathy-associated genes in 382 unrelated Finnish patients with H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f890b9088a120a8e9c7462ee06ea1f6b
https://doi.org/10.1002/ehf2.12420
https://doi.org/10.1002/ehf2.12420
Autor:
Laura Ollila, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Petri Tuomainen, Maija Kaartinen, Olayinka Raheem, Bjarne Udd, Jarkko Magga, Janne Rapola, Annukka M. Lahtinen, Eero Lehtonen, Miia Holmström, Sari Kivistö, Elisabeth Widén, Markku Saksa, Tiina Heliö
Publikováno v:
Cardiogenetics, Vol 3, Iss 1, Pp e1-e1 (2013)
LMNA mutations are amongst the most important causes of familial dilated cardiomyopathy. The most important cause of arrhythmogenic right ventricular cardiomyopathy (ARVC) is desmosomal pathology. The aim of the study was to elucidate the role of LMN
Externí odkaz:
https://doaj.org/article/1ac03474f93c4cf9817d65b3387c2ae0
Autor:
Marko Sysi-Aho, Juha Koikkalainen, Tuulikki Seppänen-Laakso, Maija Kaartinen, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Margareta Antila, Kirsi Lauerma, Eeva Reissell, Raija Jurkko, Jyrki Lötjönen, Tiina Heliö, Matej Orešič
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e15744 (2011)
Dilated cardiomyopathy (DCM), characterized by left ventricular dilatation and systolic dysfunction, constitutes a significant cause for heart failure, sudden cardiac death or need for heart transplantation. Lamin A/C gene (LMNA) on chromosome 1p12 i
Externí odkaz:
https://doaj.org/article/268eb6061f0948ca9461ace159bd6b9f
Autor:
Jonna Tallila, Massimiliano Gentile, Samuel Myllykangas, Maija Kaartinen, Pertteli Salmenperä, Sanna Vattulainen, Tero-Pekka Alastalo, Laura Ollila, Hannele Koillinen, Juha Koskenvuo, Tiina Heliö, Oyediran Akinrinade, Markku S. Nieminen
Publikováno v:
European Heart Journal
Genetic analysis among patients with dilated cardiomyopathy (DCM) is becoming an important part of clinical assessment, as it is in hypertrophic cardiomyopathy (HCM). The genetics of DCM is complex and therefore next-generation sequencing strategies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e498a0b9a09312ffc8aa515446be8bf7
http://europepmc.org/articles/PMC4561350
http://europepmc.org/articles/PMC4561350
Autor:
Laura, Ollila, Kjell, Nikus, Miia, Holmström, Mikko, Jalanko, Raija, Jurkko, Maija, Kaartinen, Juha, Koskenvuo, Johanna, Kuusisto, Satu, Kärkkäinen, Eeva, Palojoki, Eeva, Reissell, Päivi, Piirilä, Tiina, Heliö
Publikováno v:
Open Heart
Objective Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5–8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c9ef7223436e2565252f6285cf7b4468
https://pubmed.ncbi.nlm.nih.gov/28123761
https://pubmed.ncbi.nlm.nih.gov/28123761
Deleterious assembly of mutant p.S143P lamin A/C causes ER stress in familial dilated cardiomyopathy
Autor:
Gun West, Anni Keinänen, Laura Virtanen, Pekka Taimen, Robert D. Goldman, Maija Kaartinen, Takeshi Shimi, Song Ping Li, Harald Herrmann, Laura Ollila, Josef Gullmets, Monika Mauermann, Tiina Heliö, Johanna Kuusisto, John E. Eriksson
Publikováno v:
Journal of Cell Science.
Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.S143P) is the most frequently reported gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30557d7f10fe56027a46557d17ac028b
https://doi.org/10.1242/jcs.184150
https://doi.org/10.1242/jcs.184150
Autor:
Maija Kaartinen, Risto Kaaja, Eeva Reissell, Johanna Kuusisto, Tiina Heliö, Eeva Palojoki, Satu Kärkkäinen
Publikováno v:
European Journal of Heart Failure. 12:630-633
This retrospective case report describes 11 pregnancies in five women. All of the women were carriers of the lamin A/C gene mutation known to cause dilated cardiomyopathy, often together with atrioventricular conduction disturbances. The penetrance o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91dd7c3358e572b1e16b373223caed27
https://doi.org/10.1093/eurjhf/hfq059
https://doi.org/10.1093/eurjhf/hfq059
Autor:
Annukka M. Lahtinen, Kimmo Kontula, Veli-Pekka Lehto, Annukka Lehtonen, Elisabeth Widen, Maija Kaartinen, Lauri Toivonen, Heikki Swan, Eero Lehtonen
Publikováno v:
International Journal of Cardiology. 126:92-100
Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiac disorder characterized by life-threatening ventricular arrhythmias and fibrofatty replacement of myocardial tissue. Recent data suggest a dominant m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6798f7b916087ff78e796394b2fc7b
https://doi.org/10.1016/j.ijcard.2007.03.137
https://doi.org/10.1016/j.ijcard.2007.03.137
Autor:
Tiina Heliö, Lauri Toivonen, Petri Haapalahti, Heikki Väänänen, Matti Viitasalo, Lasse Oikarinen, Maija Kaartinen
Publikováno v:
Scandinavian Cardiovascular Journal. 42:375-382
Objectives. Patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) experience exercise-related malignant arrhythmias possibly based on delayed repolarization in the diseased right ventricle (RV). Autonomic interventions might unveil rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::419818dfe47593f1d3d08dc378a704ee
https://doi.org/10.1080/14017430802192337
https://doi.org/10.1080/14017430802192337
Autor:
Gun, West, Josef, Gullmets, Laura, Virtanen, Song-Ping, Li, Anni, Keinänen, Takeshi, Shimi, Monika, Mauermann, Tiina, Heliö, Maija, Kaartinen, Laura, Ollila, Johanna, Kuusisto, John E, Eriksson, Robert D, Goldman, Harald, Herrmann, Pekka, Taimen
Publikováno v:
Journal of cell science. 129(14)
Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.S143P) is the most frequently reported gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9726d1277ed81c8df03befa7edfc5cbf
https://pubmed.ncbi.nlm.nih.gov/27235420
https://pubmed.ncbi.nlm.nih.gov/27235420