Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Cardiomyopathies/genetics"'
Autor:
Di Toro, Alessandro, Urtis, Mario, Narula, Nupoor, Giuliani, Lorenzo, Grasso, Maurizia, Pasotti, Michele, Pellegrini, Carlo, Serio, Alessandra, Pilotto, Andrea, Antoniazzi, Elena, Rampino, Teresa, Magrassi, Lorenzo, Valentini, Adele, Cavallini, Anna, Scelsi, Laura, Ghio, Stefano, Abelli, Massimo, Olivotto, Iacopo, Porcu, Maurizio, Gavazzi, Antonello, Kodama, Takahide, Arbustini, Eloisa
Publikováno v:
In Journal of the American College of Cardiology 11 October 2022 80(15):1431-1443
Autor:
Tayal, Upasana, Verdonschot, Job A.J., Hazebroek, Mark R., Howard, James, Gregson, John, Newsome, Simon, Gulati, Ankur, Pua, Chee Jian, Halliday, Brian P., Lota, Amrit S., Buchan, Rachel J., Whiffin, Nicola, Kanapeckaite, Lina, Baruah, Resham, Jarman, Julian W.E., O’Regan, Declan P., Barton, Paul J.R., Ware, James S., Pennell, Dudley J., Adriaans, Bouke P., Bekkers, Sebastiaan C.A.M., Donovan, Jackie, Frenneaux, Michael, Cooper, Leslie T., Januzzi, James L., Jr., Cleland, John G.F., Cook, Stuart A., Deo, Rahul C., Heymans, Stephane R.B., Prasad, Sanjay K.
Publikováno v:
In Journal of the American College of Cardiology 7 June 2022 79(22):2219-2232
Autor:
Yu, Bing, Roberts, Mary B., Raffield, Laura M., Zekavat, Seyedeh Maryam, Nguyen, Ngoc Quynh H., Biggs, Mary L., Brown, Michael R., Griffin, Gabriel, Desai, Pinkal, Correa, Adolfo, Morrison, Alanna C., Shah, Amil M., Niroula, Abhishek, Uddin, Md Mesbah, Honigberg, Michael C., Ebert, Benjamin L., Psaty, Bruce M., Whitsel, Eric A., Manson, JoAnn E., Kooperberg, Charles, Bick, Alexander G., Ballantyne, Christie M., Reiner, Alex P., Natarajan, Pradeep, Eaton, Charles B.
Publikováno v:
In Journal of the American College of Cardiology 6 July 2021 78(1):42-52
Autor:
Sheppard, M.N., van der Wal, A.C., Banner, J., d'Amati, G., De Gaspari, M., De Gouveia, R., Di Gioia, C., Giordano, C., Larsen, M.K., Lynch, M.J., Lucena, J., Molina, P., Parsons, S., Suarez-Mier, M.P., Rizzo, S., Suvarna, S.K., Rijdt, WPT, Thiene, G., Vink, A., Westaby, J., Michaud, K., Basso, C.
Publikováno v:
Virchows Archiv, vol. 482, no. 4, pp. 653-669
Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1900::3adde79061492d2bbe81cf970a668bb1
https://serval.unil.ch/resource/serval:BIB_3FCA281023B9.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_3FCA281023B9.P001/REF.pdf
Autor:
Tim R Eijgenraam, Cornelis J. Boogerd, Xiaoke Yin, Manuel Mayr, Lukas E Schmidt, Herman H W Silljé, Eva van Rooij, Peter van der Meer, Nienke M Stege, Martin M Dokter, Rudolf A. de Boer, Vivian Oliveira Nunes Teixeira, Jolanda van der Velden, Konstantinos Theofilatos
Publikováno v:
Circulation-Heart failure, 14(11):e008532. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Heart failure, 14(11). Lippincott Williams and Wilkins Ltd.
Circulation. Heart failure, 14(11). Lippincott Williams and Wilkins
Circulation. Heart Failure
Eijgenraam, T R, Boogerd, C J, Stege, N M, Oliveira Nunes Teixeira, V, Dokter, M M, Schmidt, L E, Yin, X, Theofilatos, K, Mayr, M, van der Meer, P, van Rooij, E, van der Velden, J, Silljé, H H W & de Boer, R A 2021, ' Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy : Development of PLN-R14del-Related Cardiomyopathy ', Circulation. Heart failure, vol. 14, no. 11, pp. e008532 . https://doi.org/10.1161/CIRCHEARTFAILURE.121.008532
Circulation. Heart failure, 14(11). Lippincott Williams and Wilkins Ltd.
Circulation. Heart failure, 14(11). Lippincott Williams and Wilkins
Circulation. Heart Failure
Eijgenraam, T R, Boogerd, C J, Stege, N M, Oliveira Nunes Teixeira, V, Dokter, M M, Schmidt, L E, Yin, X, Theofilatos, K, Mayr, M, van der Meer, P, van Rooij, E, van der Velden, J, Silljé, H H W & de Boer, R A 2021, ' Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy : Development of PLN-R14del-Related Cardiomyopathy ', Circulation. Heart failure, vol. 14, no. 11, pp. e008532 . https://doi.org/10.1161/CIRCHEARTFAILURE.121.008532
Supplemental Digital Content is available in the text.
Background: The p.(Arg14del) pathogenic variant (R14del) of the PLN (phospholamban) gene is a prevalent cause of cardiomyopathy with heart failure. The exact underlying pathophysiology is un
Background: The p.(Arg14del) pathogenic variant (R14del) of the PLN (phospholamban) gene is a prevalent cause of cardiomyopathy with heart failure. The exact underlying pathophysiology is un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f4ffc1ac9b8e1747e73da8397147370
https://doi.org/10.1161/circheartfailure.121.008532
https://doi.org/10.1161/circheartfailure.121.008532
Autor:
Setareh Moghadasi, Jan D. H. Jongbloed, D. Q. C. M. Barge-Schaapveld, M Louisa Antoni, Ronald H. Lekanne Deprez, Rienke Fijn, Yvonne J. Vos, Judith R. Kroep, Mariëlle J M de Vreede, Saskia L M A Beeres, Hennie Bikker, Djike Josephus Jitta
Publikováno v:
European Heart Journal-Case Reports, 5(10):ytab333. Oxford University Press
EUROPEAN HEART JOURNAL-CASE REPORTS, 5(10), 1-6. OXFORD UNIV PRESS
European Heart Journal: Case Reports
EUROPEAN HEART JOURNAL-CASE REPORTS, 5(10), 1-6. OXFORD UNIV PRESS
European Heart Journal: Case Reports
Background Cardiotoxicity presenting as cardiomyopathy is a common side effect in cancer treatment especially with anthracyclines. The role of genetic predisposition is still being investigated. Case summary Four unrelated patients with a familial bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::741ac1e74154ceab68f1f731576e507c
https://hdl.handle.net/1887/3257105
https://hdl.handle.net/1887/3257105
Autor:
Niels Morling, Clàudia Congost-Teixidor, Jeppe Dyrberg Andersen, Stine B Jacobsen, Sofie Lindgren Christiansen, Marie-Louise Kampmann, Linea Christine Trudsø
Publikováno v:
PLoS ONE
Trudsø, L C, Andersen, J D, Jacobsen, S B, Christiansen, S L, Congost-Teixidor, C, Kampmann, M-L & Morling, N 2020, ' A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods ', PLoS ONE, vol. 15, no. 9, e0239850 . https://doi.org/10.1371/journal.pone.0239850
PLoS ONE, Vol 15, Iss 9, p e0239850 (2020)
Trudsø, L C, Andersen, J D, Jacobsen, S B, Christiansen, S L, Congost-Teixidor, C, Kampmann, M-L & Morling, N 2020, ' A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods ', PLoS ONE, vol. 15, no. 9, e0239850 . https://doi.org/10.1371/journal.pone.0239850
PLoS ONE, Vol 15, Iss 9, p e0239850 (2020)
Massively parallel sequencing (MPS) has revolutionised clinical genetics and research within human genetics by enabling the detection of variants in multiple genes in several samples at the same time. Today, multiple approaches for MPS of DNA are ava
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cadd0ad0036109082d4941cb3b077583
https://pubmed.ncbi.nlm.nih.gov/32986766
https://pubmed.ncbi.nlm.nih.gov/32986766
Akademický článek
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Autor:
Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538
American journal of human genetics, vol. 101, no. 4, pp. 525-538
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937c
http://europepmc.org/articles/PMC5630164
http://europepmc.org/articles/PMC5630164
Autor:
Cristina Beltrami, Owen J. L. Rackham, Costanza Emanueli, Nithya Devapragash, Wei-Ping Yu, Xi-Ming Sun, Stuart A. Cook, Norbert Hubner, Francesco Pesce, Ee Ling Heng, Elisabeth Tan, Aida Moreno-Moral, Enrique Lara-Pezzi, Gianni D Angelini, Enrico Petretto, Huimei Chen, Paul J.R. Barton, Nathan Harmston, Michal Pravenec, Sebastian Schafer, Maxime Rotival, Nicole Tee, Massimilano Mancini, Leanne E. Felkin, Leonardo Bottolo, Prashant K. Srivastava, Kirill Shkura
Publikováno v:
Nature Communications
Nature Communications, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Chen, H, Moreno-Moral, A, Pesce, F, Devapragash, N, Mancini, M, Heng, E L, Rotival, M, Srivastava, P K, Harmston, N, Shkura, K, Rackham, O J L, Yu, W P, Sun, X M, Tee, N G Z, Tan, E L S, Barton, P J R, Felkin, L E, Lara-Pezzi, E, Angelini, G, Beltrami, C, Pravenec, M, Schafer, S, Bottolo, L, Hubner, N, Emanueli, C, Cook, S A & Petretto, E 2019, ' WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signalling ', Nature Communications, vol. 10, 3616 . https://doi.org/10.1038/s41467-019-11551-9
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature Communications, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Chen, H, Moreno-Moral, A, Pesce, F, Devapragash, N, Mancini, M, Heng, E L, Rotival, M, Srivastava, P K, Harmston, N, Shkura, K, Rackham, O J L, Yu, W P, Sun, X M, Tee, N G Z, Tan, E L S, Barton, P J R, Felkin, L E, Lara-Pezzi, E, Angelini, G, Beltrami, C, Pravenec, M, Schafer, S, Bottolo, L, Hubner, N, Emanueli, C, Cook, S A & Petretto, E 2019, ' WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signalling ', Nature Communications, vol. 10, 3616 . https://doi.org/10.1038/s41467-019-11551-9
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
Cardiac fibrosis is a final common pathology in inherited and acquired heart diseases that causes cardiac electrical and pump failure. Here, we use systems genetics to identify a pro-fibrotic gene network in the diseased heart and show that this netw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9a8eae768aaa77cac0482318b75243
https://doi.org/10.1038/s41467-019-11551-9
https://doi.org/10.1038/s41467-019-11551-9