Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Elisa Mastantuono"'
Autor:
Anna B. Meier, Sarala Raj Murthi, Hilansi Rawat, Christopher N. Toepfer, Gianluca Santamaria, Manuel Schmid, Elisa Mastantuono, Thomas Schwarzmayr, Riccardo Berutti, Julie Cleuziou, Peter Ewert, Agnes Görlach, Karin Klingel, Karl-Ludwig Laugwitz, Christine E. Seidman, Jonathan G. Seidman, Alessandra Moretti, Cordula M. Wolf
Publikováno v:
iScience, Vol 25, Iss 1, Pp 103596- (2022)
Summary: Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dom
Externí odkaz:
https://doaj.org/article/ed0a2036e5be4bbba4144dc8f1dc2f9b
Autor:
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with
Externí odkaz:
https://doaj.org/article/129e2104cafd486f9cf68aead98de16c
Publikováno v:
Cardiogenetics, Vol 1, Iss 2, Pp e6-e6 (2011)
The sudden infant death syndrome (SIDS), with the load of mystery surrounding its causes and with the devastating impact on the affected families, remains the greatest contributor to post-neonatal mortality during the first year of life. Following a
Externí odkaz:
https://doaj.org/article/7f2d05e59d5a414292e44d1bf1ce42ea
Autor:
Dominik S. Westphal, Elisa Mastantuono, Heide Seidel, Korbinian M. Riedhammer, Andreas Hahn, Katharina Vill, Matias Wagner
Publikováno v:
Gene. 814
Congenital heart defects (CHD) are the most common birth defect and disease-causing variant in TAB2 have found to be associated with isolated CHD. Recently, it became evident that pathogenic, mostly loss-of-function variants in TAB2 can also cause sy
Autor:
Stefanie Sudhop, Harald Lahm, Thomas Brade, Sharon L. Paige, Alexander Goedel, Svenja Laue, Thomas Meitinger, Markus Krane, Stefanie A. Doppler, Alessandra Moretti, Connie R. Bezzina, Pedro Schneider, Zhong Zhang, Makoto Sahara, Neil E. Bowles, Hilansi Rawat, Riccardo Berutti, Nazan Puluca, Ilaria My, Peter J. Gruber, Andreas Dendorfer, Ralf Gilsbach, Nora Lang, M. Dreßen, Christine M. Schneider, S. Schwarz, Daniel Sinnecker, I. Neb, Gianluca Santamaria, Karl-Ludwig Laugwitz, Rüdiger Lange, Sean M. Wu, Bruce D. Gelb, C. Abou-Ajram, Tatjana Dorn, Fleur V.Y. Tjong, Lia Crotti, Maria Rijlaarsdam, Matthias Mann, Christian Kupatt, Lutz Hein, Julie Cleuziou, Elisa Mastantuono, Lesca M. Holdt, Sophia Doll, Bernd H. Northoff
Publikováno v:
Circulation 144, 1409-1428 (2021)
Circulation
bioRxiv
Circulation, 144(17), 1409-1428. Lippincott Williams and Wilkins
Circulation
bioRxiv
Circulation, 144(17), 1409-1428. Lippincott Williams and Wilkins
Supplemental Digital Content is available in the text.
Background: Complex molecular programs in specific cell lineages govern human heart development. Hypoplastic left heart syndrome (HLHS) is the most common and severe manifestation within the
Background: Complex molecular programs in specific cell lineages govern human heart development. Hypoplastic left heart syndrome (HLHS) is the most common and severe manifestation within the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f0de69ffa304c5f2a963a861f6f795c
https://doi.org/10.1101/2021.04.24.441110
https://doi.org/10.1101/2021.04.24.441110
Autor:
Harald Lahm, Julie Cleuziou, Markus Krane, I. Neb, James R. Priest, Felix Wirth, Melchior Burri, Peter Lichtner, N. Beck, Elda Dzilic, Johannes A Ziegelmüller, Thomas Meitinger, Zhong Zhang, Bertram Müller-Myhsok, Ralf Gilsbach, Peter Ewert, Olga Bondareva, Stefanie A. Doppler, Bernard Keavney, Jürgen Hörer, Heather J. Cordell, C. Abou-Ajram, Karl C. König, Nazan Puluca, Rüdiger Lange, Gertrud Eckstein, M. Dreßen, Meiwen Jia, Lutz Hein, Elisa Mastantuono
Publikováno v:
J. Clin. Invest. 131:e141837 (2021)
J Clin Invest
J Clin Invest
Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but still remain ill defined. We sought to identify genetic risk factors associated with CHD and to accomplish a functional analysis of SNP-carrying genes. We perfor
Autor:
I. Neb, Thomas Meitinger, F. Wirth, Ralf Gilsbach, Bernard Keavney, Priest, P. Lichtner, P. Ewert, J.A. Ziegelmüller, N. Beck, C. Abou-Ajram, Melchior Burri, Zhong Zhang, Ruediger Lange, Bertram Müller-Myhsok, Julie Cleuziou, G. Eckstein, Harald Lahm, Nazan Puluca, Stefanie A. Doppler, Olga Bondareva, Markus Krane, König Kc, Heather J. Cordell, Meiwen Jia, Lutz Hein, Elisa Mastantuono, Jürgen Hörer, M. Dreßen, E. Dzilic
RationaleGenetic factors undoubtedly contribute to the development of congenital heart disease (CHD), but still remain mostly ill-defined.ObjectiveIdentification of genetic risk factors associated with CHD and functional analysis of SNP-carrying gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f0bea85d27555a8606a18e73ed628a6
https://doi.org/10.1101/2020.06.19.161067
https://doi.org/10.1101/2020.06.19.161067
Autor:
Arcangela Iuso, Nicola A. Grzeschik, Holger Prokisch, Iris Barshack, Muhamad Kumbar, Bart Kanon, Thomas Schwarzmayr, Gal Dubnov-Raz, Dorothea Haas, Riccardo Berutti, Bader Alhaddad, Marit Wiersma, Zeev Perles, Ben Pode-Shakked, Georg F. Hoffmann, Mathias Grigat, Tal Tirosh, Caterina Terrile, Elisa Mastantuono, Tim M. Strom, Jürgen G. Okun, Marina Rubinshtein, Matthias C. Braunisch, Yair Anikster, Shachar Abudi, Camilla Avivi, Ana C. Messias, Amir Vardi, Brundel Bianca Johanna Josephina Maria, Ody C. M. Sibon, Eran Eyal, Dina Marek-Yagel, Tobias B. Haack, Yishay Salem, Thomas Meitinger, A Volkov, Ortal Barel, Hans Joachim Schüller
Publikováno v:
American Journal of Human Genetics, 102(6), 1018-1030. CELL PRESS
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five conse
Publikováno v:
Genetic Causes of Cardiac Disease ISBN: 9783030273705
Mitochondrial disorders are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial energy metabolism, and they represent one of the largest groups of inborn errors of metabolism. Mitochondrial disorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::245d145d27b18321bf93b9c39824c920
https://doi.org/10.1007/978-3-030-27371-2_3
https://doi.org/10.1007/978-3-030-27371-2_3
Autor:
Christian Baarlink, Elisabeth Graf, Karl-Ludwig Laugwitz, Tatjana Dorn, Giovanni Cuda, Christian Kupatt, Thomas Meitinger, Elisa Mastantuono, Andrew A. Grace, Dorota M Zawada, Ilaria My, Stefan Kääb, Elvira Immacolata Parrotta, Jessica Kornherr, Austin Smith, Laura Iop, Ralf J. Dirschinger, Gianluca Santamaria, Robert Grosse, Alexander Goedel, Harold Ayetey, Rabea Hinkel, Alessandra Moretti, Daniel Sinnecker, Tarik Bozoglu, Svenja Laue, Tilman Ziegler
Publikováno v:
The EMBO Journal
Cell–cell and cell–matrix interactions guide organ development and homeostasis by controlling lineage specification and maintenance, but the underlying molecular principles are largely unknown. Here, we show that in human developing cardiomyocyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f9a5c5b5a3247bc2a7ceb0878281a0
https://www.repository.cam.ac.uk/handle/1810/280257
https://www.repository.cam.ac.uk/handle/1810/280257