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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya +11 morewiley +1 more sourceShort-term variability and nocturnal decline in ambulatory blood pressure in normotension, white-coat hypertension, masked hypertension and sustained hypertension: A population-based study of older individuals in Spain [PDF]
, 2017 Blood pressure (BP) variability and nocturnal decline in blood pressure are associated with cardiovascular outcomes. However, little is known about whether these indexes are associated with white-coat and masked hypertension.Guallar Castillón, María Pilar, Esther López-García, Teresa Gijón-Conde, José R Banegas, Auxiliadora Graciani, López García, Esther, García García-Esquinas, Esther, Banegas Banegas, José Ramón, Esther García-Esquinas, Pilar Guallar-Castillón, Rodríguez Artalejo, Fernando, Graciani Pérez-Regadera, Auxiliadora, Gijón-Conde, Teresa, Fernando Rodríguez-Artalejo +13 morecore +1 more sourceGenome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension [PDF]
, 2010 Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%–2% of the population variation in BP and hypertension.Zanchetti A, Wichmann HE, Samani, NJ, Munroe, P., Navis G, P. Sever (7602536), Hastie, Claire E., A. H. Baker (7611224), Martina Montagnana, McDonald, Robert A., Wahlstrand, B, Kathiresan, S., Snieder, Harold; id_orcid, Völzke Henry, Ruth J. F. Loos, Nicklin, SA, Morris Brown, Nolte IM, Wichmann, H.-E., Kathiresan S, Padmanabhan Sandosh, Zhang Feng, M. Montagnana (7611173), Caulfield MJ, Rettig Rainer, Laan, Maris, Rettig, Rainer, J. Luan (7609367), Mc Donald, R.A., Melander, Olle,, Peter Vollenweider, Sever, P, Nicklin Suart, A., Zanchetti, A., Hedblad, Bo, Ole Torffvit, A. Teumer (7609454), Stewart Laing, Hastie, CE, P. Welsh (7611230), M. Burnier (7611161), Bochud, Murielle, Miller, WH, Wichmann, H.E., Martin Farrall, Montagnana M, Caulfield Mark J., M. C. Monti (7611146), J. P. Pell (6240134), Michel Burnier, Eyheramendy, S., Maris Laan, David P Strachan, Snieder Harold, Connell JMC, Vollenweider Peter, Connell, JMC, Signorini S, Zhang, F, Newton-Cheh Christopher, Laing, Stewart, M. Farrall (6522599), Stanton Alice, Timothy D Spector, Mark J. Caulfield, Sattar, N, B. Corso (7611152), Gentilini D, Kwakernaak, A.J., McDonald RA, Penninx Brenda W., W. H. Miller (7611218), Spector Timothy, D., Conell, J.M.C., Fava, Cristiano,, Shields, D.C., Kjeldsen, S, Samani Nilesh, J., Strachan, David P., Corso, B., Timothy D. Spector, Montagnana Martina, Pell JP, Nicklin Stuart A., D. S. Siscovick (7611209), Welsh, P., Johnson, T, Connell, John M. C., Penninx, B.W.J.H., Johnson, T., Naveed Sattar, Sjögren, M, Bochud Murielle, Torffvit, O, Sever Peter, Kjeldsen Sverre, G. Grassi (2592760), Navis, G., Laan, M., Padmanabhan S, Johnson T, S. Laing (7611149), Nolte Ilja, M., C. Delles (7602479), Jill P. Pell, Miller William H., Shields Denis, Colm, Lucas, Gavin, Dominiczak A.F., Connell John M. C., Snieder, H, Mark J Caulfield, Snieder H, Caulfield, M.J., A. J. Kwakernaak (3694963), Newton Cheh C, Stuart A. Nicklin, Connell John, M.C., Wahlstrand, Björn, Hedblad, Bo,, Newton-Cheh C, Brown, M., Laing S, Montagnana, Martina,, Brown Morris, Hedner, Thomas, Wareham, N.J., A. M. Di Blasio (7611140), Graham, D, Miller, W.H., Nicholas J Wareham, Rettig R, David S Siscovick, Nicholas J. Wareham, Nolte, Ilja M., F. Zhang (2167666), David S. Siscovick, Loos, Ruth J. F., McDonald Robert, A., Burnier, M, G. Mancia (7611191), Nolte Ilja M., Arora, Pankaj, Murielle Bochud, Cristina Menni, Loos, RJF, Cesana Giancarlo, Sjögren, Marketa, Baker, Andrew H., Nolte, Ilja M.; id_orcid, Welsh P, Lund University., van der Harst, Pim, Welsh, P, Monti Maria Cristina, Völzke, H, Bochud M, Sever, Peter, Baker, AH, Hedner Thomas, van der Harst, Pim; id_orcid, Maillard, Marc, Torffvit, O., Stanton, A, Wareham NJ, Kjeldsen, Sverre, Wahlstrand B, Lee, WK, B. Hedblad (7611182), S. Kathiresan (7606013), Brenda W Penninx, Spector Timothy D., Lee, W.K., Teumer, A., Toby Johnson, McBride, M, Menni Cristina, Fava Cristiano, Pim van der Harst, Penninx, Brenda W., Susana Eyheramendy, Wareham, NJ, Connell, John M.C., Teumer, A, Barbara Corso, Melander, O, Wareham Nicholas, J., Penninx, B.W., Ruth J F Loos, Claire E Hastie, Shields, Denis Colm, Alberto Zanchetti, Peter Sever, Lee Wai K., Torffvit Ole, Delles, C, Luan, J., Cristiano Fava, McBride Martin, Mancia, G., Gavin Lucas, Shields DC, Luan, Jian'an, Zhang, Feng, Arora Pankaj, Björn Wahlstrand, John M C Connell, Newton-Cheh, C, Wareham, Nicholas J., Cesana, Giancarlo, Snieder, Harold, Melander Olle, Eyheramendy, Susana, Di Blasio, A.M., Torffvit, Ole, McBride, Martin, Maillard Marc, Corso B, Schork, Nicholas J., van der Harst Pim, Nolte, IM, T. Johnson (7602368), Teumer Alexander, D. Graham (29758), Loos Ruth, J.F., Monti Maria, Cristina, Hastie Claire E., S. A. Nicklin (7611221), M. Bochud (7611158), Kwakernaak Arjan, J., Global BPgen Consortium (7611233), Sjögren M, Voelzke, Henry, Vollenweider, P, Delles, Christian, Monti, M.C., Stanton, A., Grassi, G, Grassi, G., van der Harst P, Strachan, DP, Eyheramendy Susana, Soranzo Nicole, Danese Elisa, Gentilini, D, Fava, C, Hedner, T, Spector, TD, Navis, G, B. W. Penninx (7611212), Luan, JA, Connell JM, M. Maillard (3464312), Delles Christian, Luan, Jian'an, Montagnana, Martina, Pell, JP, Hastie CE, Eyheramendy S, Robert A. McDonald, Menni C, Luan J, Anna F Dominiczak, Connell, JM, Caulfield, Mark J., Di Blasio, AM, Burnier, M., Monti, MC, Siscovick David, S., Kwakernaak, Arjan J., Signorini, Stefano, Henry Völzke, Stuart A Nicklin, van der Harst, P, Loos RJ, Hedblad B, Strachan David P., Nolte, I.M., Pell Jill P., Burnier, Michel, Munroe P, W. K. Lee (7602476), H Erich Wichmann, null null, Ilja M. Nolte, Giuseppe Mancia, Monti, Maria Cristina, Menni, C, Farrall Martin, Brown, M, Montagnana, M., Samani, Nilesh J., Nilesh J. Samani (7579793), S. Signorini (7611194), McDonald, R.A., Farrall, M, Anna Maria Di Blasio, T. D. Spector (7608968), Baker Andrew H., Sever P, Loos RJF, Penninx Brenda, W., Vollenweider, P., Marc Maillard, Sattar Naveed, Wahlstrand Björn, John M. C. Connell, Newton-Cheh, Christopher, Kwakernaak AJ, Soranzo, N, Bochud, M., M. Laan (7602659), Fava C, Penninx, BW, Sattar, Naveed, Kjeldsen S, Snieder, H., Martin McBride, Graham Delyth, Vollenweider P, G. Cesana (7611188), Mancia G, Brenda W. Penninx, O. Torffvit (7611179), D. P. Strachan (3809152), Newton-Cheh, C., A. Stanton (7611200), R. J. Loos (7608845), McDonald, RA, Danese, E., David P. Strachan, Nicklin SA, William H. Miller, Siscovick, DS, M. Sjögren (7611167), Pell, Jill P., Arora P, C. E. Hastie (7602473), H. Snieder (7611185), Signorini, S, McDonald Robert A., Ilja M Nolte, Dominiczak Anna, F., Miller, William H., Cesana, G, Stefano Signorini, Guido Grassi, I. M. Nolte (3809176), Blasio, A.M. Di, Samani, N.J., Wichmann H. Erich,, D. Gentilini (4402804), Kathiresan, S, Gerjan Navis, Harold Snieder, Samani NJ, Rettig, R, Feng Zhang, Baker, A.H., Siscovick David S., P. van der Harst (7594607), Pell Jill, P., Burnier Michel, Soranzo, N., Dominiczak, A.F., Mancia Giuseppe, Padmanabhan, Sandosh, Torffvit O, Gentilini, Davide, Völzke, Henry, Stanton A, Di Blasio Anna, Maria, van der Harst, P., Wichmann, HE, H. Erich Wichmann, Lucas, G, Mancia, G, Zanchetti, A, Mancia, Giuseppe, M. McBride (7611215), Elisa Danese, Zhang, F., Fava, Cristiano, Denis Colm Shields, Feng, Zhang, Menni, C., Laing, S., Global BPgen Consortium, Andrew H Baker, Thomas Hedner, P. Munroe (7609094), Spector, Timothy D., C. Newton-Cheh (7602563), Lee WK, Munroe, Patricia, Delyth Graham, Torffvit, Ole,, Delles, C., Hedblad, B, Sverre Kjeldsen, Wahlstrand, B., Robert A McDonald, Sjögren Marketa, Grassi G, N. Sattar (7608890), Farrall, M., O. Melander (7602683), Teumer, Alexander, Olle Melander, Dominiczak, Anna F., Kwakernaak Arjan J., Di Blasio Anna Maria, Navis Gerjan, D. C. Shields (7602542), Laan, M, Kwakernaak A, Laing Stewart, Zanchetti Alberto, Zhang F, Cesana, G., G. Navis (7611155), Siscovick, David S., C. Fava (7611170), Pell, J.P., Munroe Patricia, Siscovick DS, Melander O, Jill P Pell, Nilesh J. Samani, Strachan, D.P., Corso Barbara, Fava, C., Lucas Gavin, Maillard, M, Lucas G, N. Soranzo (7608857), Baker Andrew, H., Hastie, C.E., Sever, P., Farrall, Martin, Laan M, Hedner, T., Davide Gentilini, Corso, B, Samani Nilesh J., S. Padmanabhan (637530), Giancarlo Cesana, Stanton, Alice, Shields Denis Colm, William H Miller, Graham, Delyth, Völzke H, Sekar Kathiresan, Hedblad Bo, Danese, Elisa, Bo Hedblad, Maillard M, Miller William, H., Melander, O., Montagnana, M, Vollenweider, Peter, Burnier M, T. Hedner (7602677), Wareham Nicholas J., Wai K Lee, A. Zanchetti (7611236), Soranzo, Nicole, P. Arora (7611206), Völzke, H., Andrew H. Baker, Connell, J.M.C., Johnson, Toby, Miller WH, Strachan David, P., Sattar, N., C. Menni (7611143), B. Wahlstrand (7602680), Di Blasio AM, Sattar N, Rettig, R., Signorini Stefano, Christian Delles, Arjan J Kwakernaak, Luan Jian'an, Siscovick, D.S., Harst, Pim van der, H. Völzke (6643736), Marketa Sjögren, Danese, E, Hastie Claire, E., Monti MC, Penninx BW, Lee Wai, K., Caulfield, MJ, Christopher Newton-Cheh, Harst, P. van der, Dominiczak, AF, Arjan J. Kwakernaak, Caulfield Mark, J., Nicole Soranzo, J. M. Connell (7602551), Johnson Toby, Gentilini, D., Loos, RJ, Rainer Rettig, Anna F. Dominiczak, Loos Ruth J. F., G. Lucas (7606529), Padmanabhan, S, Teumer A, Brown, Morris, Bochud, M, Dominiczak Anna F., S. Eyheramendy (7611197), Wichmann, Heinz-Erich, Grassi, Guido, Hedblad, B., Alexander Teumer, Hedner T, Munroe, P, Wai K. Lee, Luan, J, M. Brown (3020991), Luan JA, Danese E, Welsh, Paul, Laing, S, Welsh Paul, Spector TD, Pankaj Arora, Patricia Munroe, Newton Cheh, Christopher, Maria Cristina Monti, Melander, Olle, Delles C, Graham D, H. E. Wichmann (7608932), Padmanabhan, S., R. A. McDonald (7611227), A. F. Dominiczak (7602482), Spector, T.D., Kwakernaak, AJ, Baker AH, Loos, R.J.F., Zanchetti, Alberto, Navis, Gerjan, Sjögren, Marketa,, Graham, D., Wichmann, H. Erich, Claire E. Hastie, Farrall M, N. J. Wareham (7608962), Eyheramendy, S, Kathiresan, Sekar, M. J. Caulfield (7602383), Nicklin, S.A., P. Vollenweider (4002164), Gentilini Davide, S. Kjeldsen (7611164), Arora, P, E. Danese (7611176), Sjögren, M., Laan Maris, Nicklin, Stuart A., Menni, Cristina, Signorini, S., Gentilini, G., Arora, P., Alice Stanton, Dominiczak AF, R. Rettig (7611203), Kathiresan Sekar, Paul Welsh, Maillard, M., Soranzo N, Corso, Barbara, Cesana G, Sandosh Padmanabhan, Di Blasio, Anna Maria, Jian'an Luan, Grassi Guido, McBride, M., Strachan DP, Shields, DC, Wichmann H. Erich, Lee, Wai K., Nilesh J Samani, Brown M, Lucas, G., Luan, J.A., McBride M, Kjeldsen, S. +591 morecore +1 more sourcePatient‐Derived 3D Heart‐On‐a‐Chip Model of Dilated Cardiomyopathy With Embedded Bead‐Based Mapping of Tissue Contractility
Advanced Healthcare Materials, EarlyView.A heart‐on‐a‐chip model of dilated cardiomyopathy is developed from patient‐derived induced pluripotent stem cells. The model recapitulates key disease phenotypes and enables functional assessment through integrated bead‐based tracking and pillar deflection measurements.Ali Mousavi, Ludovic Mouttet, Shihao Cui, Yasaman Hekmatnia, Mehran Mottahedi, Ida Derish, Naimeh Rafatian, Mark Aurousseau, Gregor Andelfinger, Renzo Cecere, Houman Savoji +10 morewiley +1 more source