Recessive TMOD1 mutation causes childhood cardiomyopathy

Autor: Catalina Vasilescu, Mert Colpan, Tiina H. Ojala, Tuula Manninen, Aino Mutka, Kaisa Ylänen, Otto Rahkonen, Tuija Poutanen, Laura Martelius, Reena Kumari, Helena Hinterding, Virginia Brilhante, Simo Ojanen, Pekka Lappalainen, Juha Koskenvuo, Christopher J. Carroll, Velia M. Fowler, Carol C. Gregorio, Anu Suomalainen

Publikováno v: Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)

Abstract Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565

Externí odkaz: https://doaj.org/article/17f82ec28ec14b21ac18fe950a134c51

Renal‐hepatic‐pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity

Autor: Kathryn Gunther, Essam M. Imseis, Joyce P. Samuel, Elizabeth A. Hillman, Tiina H. Ojala, Timo Jahnukainen, Paul R. Hillman

Publikováno v: Molecular Genetics & Genomic Medicine. 11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd809d84f345a83e74287a6c58e72a6b
https://doi.org/10.1002/mgg3.2135

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Autor: Gabrielle Norrish, Tao Ding, Ella Field, Elena Cervi, Lidia Ziółkowska, Iacopo Olivotto, Diala Khraiche, Giuseppe Limongelli, Aris Anastasakis, Robert Weintraub, Elena Biagini, Luca Ragni, Terrence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrián Fernández, Chiara Marrone, Regina Bökenkamp, Anwar Baban, Peter Kubus, Piers E.F. Daubeney, Georgia Sarquella-Brugada, Sergi Cesar, Sabine Klaassen, Tiina H. Ojala, Vinay Bhole, Constancio Medrano, Orhan Uzun, Elspeth Brown, Ferran Gran, Gianfranco Sinagra, Francisco J. Castro, Graham Stuart, Gabriele Vignati, Hirokuni Yamazawa, Roberto Barriales-Villa, Luis Garcia-Guereta, Satish Adwani, Katie Linter, Tara Bharucha, Pablo Garcia-Pavia, Ana Siles, Torsten B. Rasmussen, Margherita Calcagnino, Caroline B. Jones, Hans De Wilde, Toru Kubo, Tiziana Felice, Anca Popoiu, Jens Mogensen, Sujeev Mathur, Fernando Centeno, Zdenka Reinhardt, Sylvie Schouvey, Costas O’Mahony, Rumana Z. Omar, Perry M. Elliott, Juan Pablo Kaski

Publikováno v: CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Norrish, G, Ding, T, Field, E, Cervi, E, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernández, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, P E F, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, T H, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, F J, Stuart, G, Vignati, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Garcia-Pavia, P, Siles, A, Rasmussen, T B, Calcagnino, M, Jones, C B, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, O'Mahony, C, Omar, R Z, Elliott, P M & Kaski, J P 2022, ' Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy ', Circulation. Arrhythmia and Electrophysiology, vol. 15, no. 5, e010075, pp. e010075 . https://doi.org/10.1161/CIRCEP.121.010075
Scientia
Circulation: Arrhythmia and Electrophysiology, 15(5). LIPPINCOTT WILLIAMS & WILKINS
Norrish, G, Ding, T, Field, E, Cervi, E, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernández, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, P E F, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, T H, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, F J, Stuart, G, Vignati, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Garcia-Pavia, P, Siles, A, Rasmussen, T B, Calcagnino, M, Jones, C B, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, O'Mahony, C, Omar, R Z, Elliott, P M & Kaski, J P 2022, ' Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy ', Circulation. Arrhythmia and Electrophysiology, vol. 15, no. 5, e010075 . https://doi.org/10.1161/CIRCEP.121.010075

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::696cd2da909a28fb046072acbbbf160c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21462

A preliminary report–Heparin counteracts indomethacin effect on ductus arteriosus in very low birthweight infants*

Autor: Tiina H. Ojala, Liisa Lehtonen

Publikováno v: Pediatric Critical Care Medicine.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c1df7e9a3b3d7378e3df1fd6ec15305
https://doi.org/10.1097/01.pcc.0000262793.08216.c6