Genome-wide compendium and functional assessment of in vivo heart enhancers

Autor: Diane E. Dickel, Iros Barozzi, Yiwen Zhu, Yoko Fukuda-Yuzawa, Marco Osterwalder, Brandon J. Mannion, Dalit May, Cailyn H. Spurrell, Ingrid Plajzer-Frick, Catherine S. Pickle, Elizabeth Lee, Tyler H. Garvin, Momoe Kato, Jennifer A. Akiyama, Veena Afzal, Ah Young Lee, David U. Gorkin, Bing Ren, Edward M. Rubin, Axel Visel, Len A. Pennacchio

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

Identification of non-coding variants has outstripped our ability to annotate and interpret them. Dickel et al. present a compendium of over 80,000 putative human heart enhancers and demonstrate that two conserved enhancers are required for proper ca

Externí odkaz: https://doaj.org/article/b001d43a207246388e738ba39f9b2876

IGF2BP2 is Induced by Stress in the Heart and Mediates Dilated Cardiomyopathy

Autor: Miriam Krumbein, Froma Oberman, Yuval Cinnamon, Mordechai Golomb, Dalit May, Gilad Vainer, Vitali Belzer, Karen Meir, Irina Fridman, Johannes Haybaeck, Gerhard Poelzl, Izhak Kehat, Ronen Beeri, Sonja Kessler, Joel K. Yisraeli

The IGF2BP family of RNA binding proteins consists of three paralogs that regulate intracellular RNA localization, RNA stability, and translational control. Although IGF2BP1 and 3 are oncofetal proteins, IGF2BP2 expression is maintained in many tissu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d21bbeb7ea678665754b2d80db81dbe0
https://doi.org/10.1101/2022.11.03.515033

52 Genetic Loci Influencing Myocardial Mass

Autor: Alan F. Wright, Cisca Wijmenga, Bruno H. Stricker, Peter W. Macfarlane, Edward G. Lakatta, Uwe Völker, Lenore J. Launer, Olli T. Raitakari, Stephan B. Felix, Toshiko Tanaka, Osorio Meirelles, Phil Barnett, Thomas Meitinger, Albert Hofman, Bosco Trinh, Tamara B. Harris, Peter M. Okin, Axel Visel, Teresa Nutile, Claudia T. Silva, Harry Campbell, Ilja M. Nolte, M. Fabiola Del Greco, Terho Lehtimäki, Shih-Jen Hwang, Alicia Lundby, Kamil Slowikowski, Luigi Ferrucci, Joshua C. Bis, Jerome I. Rotter, Nona Sotoodehnia, Sebastian Schafer, Igor Rudan, Ozren Polasek, Vinicius Tragante, Kenneth Rice, Connie R. Bezzina, Siegfried Perz, Aravinda Chakravarti, Paul I.W. de Bakker, Jared W. Magnani, Xinchen Wang, Yigal M. Pinto, Carsten Oliver Schmidt, Marcus Dörr, Peter P. Pramstaller, Jobanpreet Sehmi, Susan R. Heckbert, Richard B. Devereux, Jesper V. Olsen, Sheila Ulivi, Shane Neph, Peter M. Visscher, James F. Wilson, Alexander Nord, Tim D. Spector, Stefan Kääb, Elsayed Z. Soliman, Weihua Zhang, Lin Y. Chen, Pim van der Harst, Veronique Vitart, Anna F. Dominiczak, Mark Eijgelsheim, Pieter A. Doevendans, Josef M. Penninger, Jaspal S. Kooner, Georg Vogler, Patricia B. Munroe, Soumya Raychaudhuri, Christian Gieger, Harold Snieder, Annamaria Iorio, Caroline Hayward, Yalda Jamshidi, Mika Kähönen, Jessica van Setten, Wilko Spiering, Ian Ford, Andrew A. Hicks, John C. Chambers, Joel N. Hirschhorn, Matthew T. Maurano, Niek Verweij, Maria Grazia Pilia, Rolf Bodmer, Vilmundur Gudnason, Ben A. Oostra, Megan V. Cannon, Nilesh J. Samani, Bruce H. R. Wolffenbuttel, Annette Peters, David Schlessinger, Daniel Levy, J. Wouter Jukema, Malou van den Boogaard, Brendan M. Buckley, Arne Pfeufer, Michiel E. Adriaens, Rossella Sorice, Matthias Heinig, Jian Yang, Norbert Hubner, Stefania Bandinelli, André G. Uitterlinden, Hans L. Hillege, Martina Müller-Nurasyid, Andres Metspalu, Eric Haugen, Laurie A. Boyer, Ronald P. Stolk, Gonçalo R. Abecasis, Dan E. Arking, Manolis Kellis, Ishminder K. Kooner, Leo-Pekka Lyytikäinen, Dena G. Hernandez, Dirk J. van Veldhuisen, Len A. Pennacchio, Kasper Lage, Gianfranco Sinagra, Bruce M. Psaty, Christopher Newton-Cheh, Cornelia M. van Duijn, Stefania Nappo, Dalit May, Paolo Gasparini, Elizabeth J. Rossin, Rudolf A. de Boer, Alessandro P Delitala, Tõnu Esko, John A. Stamatoyannopoulos, Aaron Isaacs, Kathleen F. Kerr, Sian Tsung Tan, Tune H. Pers, Serena Sanna, Melanie Waldenberger, Marina Ciullo, Jorma Viikari, Vincent M. Christoffels, Bram P. Prins, Alvaro Alonso, Sandosh Padmanabhan, Harm-Jan Westra, Moritz F. Sinner, Albert V. Smith, Kirill V. Tarasov, Konstantin Strauch, Wiek H. van Gilst, Christian X. Weichenberger, Lude Franke, Folkert W. Asselbergs, Herman H W Silljé, Jan A. Kors, Irene Mateo Leach, Karl Andersen, Ivana Kolcic, Stella Trompet, Silvia Naitza

Publikováno v: Elsevier
Journal of the American College of Cardiology, 68(13), 1435-1448. Elsevier Science
Journal of The American College of Cardiology
Journal of the American College of Cardiology, 68(13), 1435. Elsevier USA
van der Harst, P, van Setten, J, Verweij, N, Vogler, G, Franke, L, Maurano, M T, Wang, X, Mateo Leach, I, Eijgelsheim, M, Sotoodehnia, N, Hayward, C, Sorice, R, Meirelles, O, Lyytikäinen, L-P, Polašek, O, Tanaka, T, Arking, D E, Ulivi, S, Trompet, S, Müller-Nurasyid, M, Smith, A V, Dörr, M, Kerr, K F, Magnani, J W, Del Greco M, F, Zhang, W, Nolte, I M, Silva, C T, Padmanabhan, S, Tragante, V, Esko, T, Abecasis, G R, Adriaens, M E, Andersen, K, Barnett, P, Bis, J C, Bodmer, R, Buckley, B M, Campbell, H, Cannon, M V, Chakravarti, A, Chen, L Y, Delitala, A, Devereux, R B, Doevendans, P A, Dominiczak, A F, Ferrucci, L, Ford, I, Gieger, C, Harris, T B, Haugen, E, Heinig, M, Hernandez, D G, Hillege, H L, Hirschhorn, J N, Hofman, A, Hubner, N, Hwang, S-J, Iorio, A, Kähönen, M, Kellis, M, Kolcic, I, Kooner, I K, Kooner, J S, Kors, J A, Lakatta, E G, Lage, K, Launer, L J, Levy, D, Lundby, A, Macfarlane, P W, May, D, Meitinger, T, Metspalu, A, Nappo, S, Naitza, S, Neph, S, Nord, A S, Nutile, T, Okin, P M, Olsen, J V, Oostra, B A, Penninger, J M, Pennacchio, L A, Pers, T H, Perz, S, Peters, A, Pinto, Y M, Pfeufer, A, Pilia, M G, Pramstaller, P P, Prins, B P, Raitakari, O T, Raychaudhuri, S, Rice, K M, Rossin, E J, Rotter, J I, Schafer, S, Schlessinger, D, Schmidt, C O, Sehmi, J, Silljé, H H W, Sinagra, G, Sinner, M F, Slowikowski, K, Soliman, E Z, Spector, T D, Spiering, W, Stamatoyannopoulos, J A, Stolk, R P, Strauch, K, Tan, S-T, Tarasov, K V, Trinh, B, Uitterlinden, A G, van den Boogaard, M, van Duijn, C M, van Gilst, W H, Viikari, J S, Visscher, P M, Vitart, V, Völker, U, Waldenberger, M, Weichenberger, C X, Westra, H-J, Wijmenga, C, Wolffenbuttel, B H, Yang, J, Bezzina, C R, Munroe, P B, Snieder, H, Wright, A F, Rudan, I, Boyer, L A, Asselbergs, F W, van Veldhuisen, D J, Stricker, B H, Psaty, B M, Ciullo, M, Sanna, S, Lehtimäki, T, Wilson, J F, Bandinelli, S, Alonso, A, Gasparini, P, Jukema, J W, Kääb, S, Gudnason, V, Felix, S B, Heckbert, S R, de Boer, R A, Newton-Cheh, C, Hicks, A A, Chambers, J C, Jamshidi, Y, Visel, A, Christoffels, V M, Isaacs, A, Samani, N J & de Bakker, P I W 2016, ' 52 Genetic Loci Influencing Myocardial Mass ', Journal of the American College of Cardiology, vol. 68, no. 13, pp. 1435-1448 . https://doi.org/10.1016/j.jacc.2016.07.729
Journal of the American College of Cardiology
68 (2016): 1435–1448. doi:10.1016/j.jacc.2016.07.729
info:cnr-pdr/source/autori:van der Harst, Pim; van Setten, Jessica; Verweij, Niek; Vogler, Georg; Franke, Lude; Maurano, Matthew T.; Wang, Xinchen; Leach, Irene Mateo; Eijgelsheim, Mark; Sotoodehnia, Nona; Hayward, Caroline; Sorice, Rossella; Meirelles, Osorio; Lyytikainen, Leo-Pekka; Polasek, Ozren; Tanaka, Toshiko; Arking, Dan E.; Ulivi, Sheila; Trompet, Stella; Mueller-Nurasyid, Martina; Smith, Albert V.; Doerr, Marcus; Kerr, Kathleen F.; Magnani, Jared W.; Del Greco, Fabiola; Zhang, Weihua; Nolte, Ilja M.; Silva, Claudia T.; Padmanabhan, Sandosh; Tragante, Vinicius; Esko, Tonu; Abecasis, Gonclo R.; Adriaens, Michiel E.; Andersen, Karl; Barnett, Phil; Bis, Joshua C.; Bodmer, Rolf; Buckley, Brendan M.; Campbell, Harry; Cannon, Megan V.; Chakravarti, Aravinda; Chen, Lin Y.; Delitala, Alessandro; Devereux, Richard B.; Doevendans, Pieter A.; Dominiczak, Anna F.; Ferrucci, Luigi; Ford, Ian; Gieger, Christian; Harris, Tamara B.; Haugen, Eric; Heinig, Matthias; Hernandez, Dena G.; Hillege, Hans L.; Hirschhorn, Joel N.; Hofman, Albert; Hubner, Norbert; Hwang, Shih-Jen; Iorio, Annamaria; Kahonen, Mika; Kellis, Manolis; Kolcic, Ivana; Kooner, Ishminder K.; Kooner, Jaspal S.; Kors, Jan A.; Lakatta, Edward G.; Lage, Kasper; Launer, Lenore J.; Levy, Daniel; Lundby, Alicia; Macfarlane, Peter W.; May, Dalit; Meitinger, Thomas; Metspalu, Andres; Nappo, Stefania; Naitza, Silvia; Neph, Shane; Nord, Alex S.; Nutile, Teresa; Okin, Peter M.; Olsen, Jesper V.; Oostra, Ben A.; Penninger, Josef M.; Pennacchio, Len A.; Pers, Tune H.; Perz, Siegfried; Peters, Annette; Pinto, Yigal M.; Pfeufer, Arne; Pilia, Maria Grazia; Pramstaller, Peter P.; Prins, Bram P.; Raitakari, Olli T.; Raychaudhuri, Soumya; Rice, Ken M.; Rossin, Elizabeth J.; Rotter, Jerome I.; Schafer, Sebastian; Schlessinger, David; Schmidt, Carsten O.; Sehmi, Jobanpreet; Sillje, Herman H. W.; Sinagra, Gianfranco; Sinner, Moritz F.; Slowikowski, Kamil; Soliman, Elsayed Z.; Spector, Timothy D.; Spiering, Wilko; Stamatoyannopoulos, John A.; Stolk, Ronald P.; Strauch, Konstantin; Tan, Sian-Tsung; Tarasov, Kirill V.; Trinh, Bosco; Uitterlinden, Andre G.; van den Boogaard, Malou; van Duijn, Cornelia M.; van Gilst, Wiek H.; Viikari, Jorma S.; Visscher, Peter M.; Vitart, Veronique; Voelker, Uwe; Waldenberger, Melanie; Weichenberger, Christian X.; Westra, Harm-Jan; Wijmenga, Cisca; Wolffenbuttel, Bruce H.; Yang, Jian; Bezzina, Connie R.; Munroe, Patricia B.; Snieder, Harold; Wright, Alan F.; Rudan, Igor; Boyer, Laurie A.; Asselbergs, Folkert W.; van Veldhuisen, Dirk J.; Stricker, Bruno H.; Psaty, Bruce M.; Ciullo, Marina; Sanna, Serena; Lehtimaki, Terho; Wilson, James F.; Bandinelli, Stefania; Alonso, Alvaro; Gasparini, Paolo; Jukema, J. Wouter; Kaeaeb, Stefan; Gudnason, Vilmundur; Felix, Stephan B.; Heckbert, Susan R.; de Boer, Rudolf A.; Newton-Cheh, Christopher; Hicks, Andrew A.; Chambers, John C.; Jamshidi, Yalda; Visel, Axel; Christoffels, Vincent M.; Isaacs, Aaron; Samani, Nilesh J.; de Bakker, Paul I. W./titolo:52 Genetic Loci Influencing Myocardial Mass/doi:10.1016%2Fj.jacc.2016.07.729/rivista:Journal of the American College of Cardiology (Print)/anno:2016/pagina_da:1435/pagina_a:1448/intervallo_pagine:1435–1448/volume:68
Journal of the American College of Cardiology, 68(13), 1435-1448
van der Harst, P, van Setten, J, Verweij, N, Vogler, G, Franke, L, Maurano, M T, Wang, X, Mateo Leach, I, Eijgelsheim, M, Sotoodehnia, N, Hayward, C, Sorice, R, Meirelles, O, Lyytikäinen, L-P, Polašek, O, Tanaka, T, Arking, D E, Ulivi, S, Trompet, S, Müller-Nurasyid, M, Smith, A V, Dörr, M, Kerr, K F, Magnani, J W, Del Greco M, F, Zhang, W, Nolte, I M, Silva, C T, Padmanabhan, S, Tragante, V, Esko, T, Abecasis, G R, Adriaens, M E, Andersen, K, Barnett, P, Bis, J C, Bodmer, R, Buckley, B M, Campbell, H, Cannon, M V, Chakravarti, A, Chen, L Y, Delitala, A, Devereux, R B, Doevendans, P A, Dominiczak, A F, Ferrucci, L, Ford, I, Gieger, C, Harris, T B, Haugen, E, Heinig, M, Hernandez, D G, Hillege, H L, Hirschhorn, J N, Hofman, A, Hubner, N, Hwang, S-J, Iorio, A, Kähönen, M, Kellis, M, Kolcic, I, Kooner, I K, Kooner, J S, Kors, J A, Lakatta, E G, Lage, K, Launer, L J, Levy, D, Lundby, A, Macfarlane, P W, May, D, Meitinger, T, Metspalu, A, Nappo, S, Naitza, S, Neph, S, Nord, A S, Nutile, T, Okin, P M, Olsen, J V, Oostra, B A, Penninger, J M, Pennacchio, L A, Pers, T H, Perz, S, Peters, A, Pinto, Y M, Pfeufer, A, Pilia, M G, Pramstaller, P P, Prins, B P, Raitakari, O T, Raychaudhuri, S, Rice, K M, Rossin, E J, Rotter, J I, Schafer, S, Schlessinger, D, Schmidt, C O, Sehmi, J, Silljé, H H W, Sinagra, G, Sinner, M F, Slowikowski, K, Soliman, E Z, Spector, T D, Spiering, W, Stamatoyannopoulos, J A, Stolk, R P, Strauch, K, Tan, S-T, Tarasov, K V, Trinh, B, Uitterlinden, A G, van den Boogaard, M, van Duijn, C M, van Gilst, W H, Viikari, J S, Visscher, P M, Vitart, V, Völker, U, Waldenberger, M, Weichenberger, C X, Westra, H-J, Wijmenga, C, Wolffenbuttel, B H, Yang, J, Bezzina, C R, Munroe, P B, Snieder, H, Wright, A F, Rudan, I, Boyer, L A, Asselbergs, F W, van Veldhuisen, D J, Stricker, B H, Psaty, B M, Ciullo, M, Sanna, S, Lehtimäki, T, Wilson, J F, Bandinelli, S, Alonso, A, Gasparini, P, Jukema, J W, Kääb, S, Gudnason, V, Felix, S B, Heckbert, S R, de Boer, R A, Newton-Cheh, C, Hicks, A A, Chambers, J C, Jamshidi, Y, Visel, A, Christoffels, V M, Isaacs, A, Samani, N J & de Bakker, P I W 2016, ' 52 Genetic Loci Influencing Myocardial Mass ', Journal of the American College of Cardiology, vol. 68, no. 13, pp. 1435-48 . https://doi.org/10.1016/j.jacc.2016.07.729
Journal of the American College of Cardiology, 68(13), 1435-1448. Elsevier USA
Journal of the American College of Cardiology, 68(13), 1435-1448. Elsevier Inc.
Journal of the American College of Cardiology, 68(13), 1435-1448. ELSEVIER SCIENCE INC
J. Am. Coll. Cardiol. 68, 1435-1448 (2016)
van der Harst, P, van Setten, J, Verweij, N, Vogler, G, Franke, L, Maurano, M T, Wang, X, Mateo Leach, I, Eijgelsheim, M, Sotoodehnia, N, Hayward, C, Sorice, R, Meirelles, O, Lyytikäinen, L-P, Polasek, O, Tanaka, T, Arking, D E, Ulivi, S, Trompet, S, Müller-Nurasyid, M, Smith, A V, Dörr, M, Kerr, K F, Magnani, J W, Del Greco M, F, Zhang, W, Nolte, I M, Silva, C T, Padmanabhan, S, Tragante, V, Esko, T, Abecasis, G R, Adriaens, M E, Andersen, K, Barnett, P, Bis, J C, Bodmer, R, Buckley, B M, Campbell, H, Cannon, M V, Chakravarti, A, Chen, L Y, Delitala, A, Devereux, R B, Doevendans, P A, Dominiczak, A F, Ferrucci, L, Ford, I, Gieger, C, Harris, T B, Haugen, E, Heinig, M, Hernandez, D G, Hillege, H L, Hirschhorn, J N, Hofman, A, Hubner, N, Hwang, S-J, Iorio, A, Kähönen, M, Kellis, M, Kolcic, I, Kooner, I K, Kooner, J S, Kors, J A, Lakatta, E G, Lage, K, Launer, L J, Levy, D, Lundby, A, Macfarlane, P W, May, D, Meitinger, T, Metspalu, A, Nappo, S, Naitza, S, Neph, S, Nord, A S, Nutile, T, Okin, P M, Olsen, J V, Oostra, B A, Penninger, J M, Pennacchio, L A, Pers, T H, Perz, S, Peters, A, Pinto, Y M, Pfeufer, A, Pilia, M G, Pramstaller, P P, Prins, B P, Raitakari, O T, Raychaudhuri, S, Rice, K M, Rossin, E J, Rotter, J I, Schafer, S, Schlessinger, D, Schmidt, C O, Sehmi, J, Silljé, H H W, Sinagra, G, Sinner, M F, Slowikowski, K, Soliman, E Z, Spector, T D, Spiering, W, Stamatoyannopoulos, J A, Stolk, R P, Strauch, K, Tan, S-T, Tarasov, K V, Trinh, B, Uitterlinden, A G, van den Boogaard, M, van Duijn, C M, van Gilst, W H, Viikari, J S, Visscher, P M, Vitart, V, Völker, U, Waldenberger, M, Weichenberger, C X, Westra, H-J, Wijmenga, C, Wolffenbuttel, B H, Yang, J, Bezzina, C R, Munroe, P B, Snieder, H, Wright, A F, Rudan, I, Boyer, L A, Asselbergs, F W, van Veldhuisen, D J, Stricker, B H, Psaty, B M, Ciullo, M, Sanna, S, Lehtimäki, T, Wilson, J F, Bandinelli, S, Alonso, A, Gasparini, P, Jukema, J W, Kääb, S, Gudnason, V, Felix, S B, Heckbert, S R, de Boer, R A, Newton-Cheh, C, Hicks, A A, Chambers, J C, Jamshidi, Y, Visel, A, Christoffels, V M, Isaacs, A, Samani, N J & de Bakker, P I W 2016, ' 52 Genetic Loci Influencing Myocardial Mass ', Journal of the American College of Cardiology, vol. 68, no. 13, pp. 1435-48 . https://doi.org/10.1016/j.jacc.2016.07.729
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

BACKGROUND Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db2fc7f0a4c18983fe62e1ec6c7ffd5
https://doi.org/10.1016/j.jacc.2016.07.729

A High-Resolution Enhancer Atlas of the Developing Telencephalon

Autor: Ingrid Plajzer-Frick, Sengthavy Phouanenavong, Len A. Pennacchio, Hani Z. Girgis, Gabriel L. McKinsey, Ivan Ovcharenko, Olga Golonzhka, John L.R. Rubenstein, Tommy Kaplan, Renée V. Hoch, Amy Holt, Roya Hosseini, Arnold R. Kriegstein, Shanni N. Silberberg, Leila Taher, Jennifer A. Akiyama, David V. Hansen, Malak Shoukry, Alexander Nord, Edward M. Rubin, Dalit May, Veena Afzal, Matthew J. Blow, Axel Visel, Kartik Pattabiraman

Publikováno v: Cell, vol 152, iss 4

SummaryThe mammalian telencephalon plays critical roles in cognition, motor function, and emotion. Though many of the genes required for its development have been identified, the distant-acting regulatory sequences orchestrating their in vivo express

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f7ec34a7ddc28fef484bf21b9e3e54
https://doi.org/10.1016/j.cell.2012.12.041

Massively parallel functional dissection of mammalian enhancers in vivo

Autor: Choli Lee, Robin P. Smith, Rupali P Patwardhan, Mee J. Kim, Jay Shendure, Joseph B. Hiatt, Len A. Pennacchio, Daniela Witten, Gregory M. Cooper, Dalit May, Jennifer M. Andrie, Su-In Lee, Nadav Ahituv

Publikováno v: Nature biotechnology, vol 30, iss 3
Nature biotechnology

The functional consequences of genetic variation in mammalian regulatory elements are poorly understood. We report the in vivo dissection of three mammalian liver enhancers at single nucleotide resolution via a massively parallelized reporter assay.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0e64e7ff7d5ff3e89e311b2aeff9d36
https://doi.org/10.1038/nbt.2136