To Modify or Not to Modify: Allele‐Specific Effects of 3'UTR‐KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant‐Negative Mutation

Autor: Annika Winbo, Ulla‐Britt Diamant, Johan Persson, Steen M. Jensen, Annika Rydberg

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 18 (2022)

Background There are conflicting reports with regard to the allele‐specific gene suppression effects of single nucleotide polymorphisms (SNPs) in the 3'untranslated region (3'UTR) of the KCNQ1 gene in long QT syndrome type 1 (LQT1) populations. Her

Externí odkaz: https://doaj.org/article/ba1ec9b1125e4572b1db0969dcdb8ee9

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

Autor: Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen, Annika Rydberg

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

Abstract Background Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen among carriers of ide

Externí odkaz: https://doaj.org/article/e142399726f84005ad0c4e2caebdedb4

Functional coculture of sympathetic neurons and cardiomyocytes derived from human-induced pluripotent stem cells

Autor: Stefan Jovinge, Johanna M. Montgomery, Suganeya Ramanan, Jonathan R. Skinner, Annika Winbo, Emily Eugster

Publikováno v: American journal of physiology. Heart and circulatory physiology. 319(5)

Sympathetic neurons (SNs) capable of modulating the heart rate of murine cardiomyocytes (CMs) can be differentiated from human stem cells. The electrophysiological properties of human stem cell-derived SNs remain largely uncharacterized, and human ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa2665ca540913ea6b0c645ad1b51bf2
https://pubmed.ncbi.nlm.nih.gov/32822546

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Autor: Yvonne M. Hoedemaekers, M. Ben Shoemaker, Pascale Guicheney, Antoine Leenhardt, Andrea Mazzanti, Minoru Horie, Jan H. Veldink, Isabelle Denjoy, Yu Kucho, Chiea Chuen Khor, Tomas Robyns, Carlo Napolitano, Peter Weeke, J. Martijn Bos, David J. Tester, Hanno L. Tan, Annika Rydberg, Patrick T. Ellinor, Pilar Galan, Taisuke Ishikawa, Seiko Ohno, Peter J. Schwartz, Masao Yoshinaga, Thomas Werge, Marta Ribasés, Bart Loeys, Jean-Jacques Schott, Jacob Tfelt-Hansen, Ulla-Britt Diamant, Marko Ernsting, Georgia Sarquella-Brugada, Yuka Mizusawa, Michael Christiansen, Pyotr G. Platonov, Annika Winbo, Thomas Meitinger, Keiko Shimamoto, Cristina Barlassina, Pieter G. Postema, Takeru Makiyama, Maarten P. van den Berg, Yanushi D. Wijeyeratne, Wataru Shimizu, Charles Antzelevitch, Christopher Newton-Cheh, Martina Müller-Nurasyid, Dan M. Roden, Vincent Probst, Takeshi Aiba, Lia Crotti, Daniele Cusi, Britt M. Beckmann, Johan Saenen, Peter Lichtner, Oscar Campuzano, Tin Aung, Nynke Hofman, Morten S. Olesen, Matteo Pedrazzini, Elijah R. Behr, Karen E. Morrison, Najim Lahrouchi, Katja E. Odening, Andrew D. Krahn, Kari L. Turkowski, J. Peter van Tintelen, Steven A. Lubitz, Federica Dagradi, Josep Brugada, Julien Barc, Birgit Stallmeyer, Stefan Kääb, Sven Zumhagen, Jonathan R. Skinner, Michael W.T. Tanck, Christopher Shaw, Brianna Davies, Eric Schulze-Bahr, Mineo Ozaki, Roddy Walsh, Antoine Andorin, Leonard H. van den Berg, Silvia G. Priori, Johannes Steinfurt, Jean-Baptiste Gourraud, Eline A. Nannenberg, Mark Lathrop, Rafik Tadros, Ramon Brugada, Leander Beekman, Peter M. Andersen, Ryan Pfeiffer, Boris Rudic, Reza Jabbari, Kanae Hasegawa, Jeroen Breckpot, Naomasa Makita, Michael J. Ackerman, Arthur A.M. Wilde, Hideki Itoh, Martin Borggrefe, Elena Arbelo, Connie R. Bezzina, Pamela J. Shaw, Ammar Al-Chalabi, Markus Munter

Publikováno v: Circulation, 142(4), 324-338. Lippincott Williams and Wilkins
Circulation
Circulation, American Heart Association, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Circulation, 142, 4, pp. 324-38
Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P G, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K L, Mazzanti, A, Beckmann, B M, Shimamoto, K, Diamant, U-B, Wijeyeratne, Y D, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S A, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M B, Weeke, P E, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D J, Bos, J M, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P G, Stallmeyer, B, Zumhagen, S, Nannenberg, E A, Veldink, J H, van den Berg, L H, Al-Chalabi, A, Shaw, C E, Shaw, P J, Morrison, K E, Andersen, P M, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J P, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J-J, Gourraud, J-B, Makiyama, T, Ohno, S, Itoh, H, Krahn, A D, Antzelevitch, C, Roden, D M, Saenen, J, Borggrefe, M, Odening, K E, Ellinor, P T, Tfelt-Hansen, J, Skinner, J R, van den Berg, M P, Olesen, M S, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E R, Rydberg, A, Aiba, T, Kääb, S, Priori, S G, Guicheney, P, Tan, H L, Newton-Cheh, C, Ackerman, M J, Schwartz, P J, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A A, Tanck, M W T & Bezzina, C R 2020, ' Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome ', Circulation, vol. 142, no. 4, pp. 324-338 . https://doi.org/10.1161/CIRCULATIONAHA.120.045956
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Circulation 142, 324-338 (2020)
Circulation, 142(4), 324-338. LIPPINCOTT WILLIAMS & WILKINS
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Circulation, 142, 324-38

Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06b61364655bada7ed23840f1c05d61
https://pure.amc.nl/en/publications/transethnic-genomewide-association-study-provides-insights-in-the-genetic-architecture-and-heritability-of-long-qt-syndrome(4064416e-020f-4f3a-baab-fe41d1af246c).html

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

Autor: Tony R. Merriman, Martin K. Stiles, Murray Cadzow, Tom Donoghue, Luciana Marcondes, Jonathan R. Skinner, Rachael Stiles, Ian Hayes, Debra O. Prosser, Nikki Earle, Jackie Crawford, Donald R. Love, Annika Winbo

Publikováno v: Heart rhythm. 17(8)

New Zealand has a multiethnic population and a national cardiac inherited disease registry (Cardiac Inherited Disease Registry New Zealand [CIDRNZ]). Ancestry is reflected in the spectrum and prevalence of genetic variants in long QT syndrome (LQTS).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae84bf8aa242840ea96da7d108230169
https://pubmed.ncbi.nlm.nih.gov/32229296