Search Results - "Machado, Rajiv"

Molecular genetic framework underlying pulmonary arterial hypertension by Southgate, Laura, Machado, Rajiv D., Gräf, Stefan, Morrell, Nicholas W.

“…Pulmonary arterial hypertension (PAH) is a rare, progressive disorder typified by occlusion of the pulmonary arterioles owing to endothelial dysfunction and…”
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Genetics and Genomics of Pulmonary Arterial Hypertension by Soubrier, Florent, MD, PhD, Chung, Wendy K., MD, PhD, Machado, Rajiv, PhD, Grünig, Ekkehard, MD, Aldred, Micheala, PhD, Geraci, Mark, MD, Loyd, James E., MD, Elliott, C. Gregory, MD, Trembath, Richard C., MD, Newman, John H., MD, Humbert, Marc, MD, PhD

“…Major discoveries have been obtained within the last decade in the field of hereditary predisposition to pulmonary arterial hypertension (PAH). Among them, the…”
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Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension by Long, Lu, Ormiston, Mark L, Yang, Xudong, Southwood, Mark, Gräf, Stefan, Machado, Rajiv D, Mueller, Matthias, Kinzel, Bernd, Yung, Lai Ming, Wilkinson, Janine M, Moore, Stephen D, Drake, Kylie M, Aldred, Micheala A, Yu, Paul B, Upton, Paul D, Morrell, Nicholas W

“…BMP9 activates signaling through the BMPR-II receptor in endothelial cells and reverses established disease in three animal models of pulmonary hypertension,…”
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Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension by Soon, Elaine, Holmes, Alan M, Treacy, Carmen M, Doughty, Natalie J, Southgate, Laura, Machado, Rajiv D, Trembath, Richard C, Jennings, Simon, Barker, Lucy, Nicklin, Paul, Walker, Christoph, Budd, David C, Pepke-Zaba, Joanna, Morrell, Nicholas W

“…Inflammation is a feature of pulmonary arterial hypertension (PAH), and increased circulating levels of cytokines are reported in patients with PAH. However,…”
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Genetics and Genomics of Pulmonary Arterial Hypertension by Machado, Rajiv D., PhD, Eickelberg, Oliver, MD, Elliott, C. Gregory, MD, Geraci, Mark W., MD, Hanaoka, Masayuki, MD, PhD, Loyd, James E., MD, Newman, John H., MD, Phillips, John A., MD, Soubrier, Florent, MD, PhD, Trembath, Richard C., BSc, Chung, Wendy K., MD, PhD

“…Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditable (HPAH), idiopathic (IPAH), or associated with either drug-toxin exposures or…”
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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension by Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.

“…Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β…”
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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects by Machado, Rajiv D., Southgate, Laura, Eichstaedt, Christina A., Aldred, Micheala A., Austin, Eric D., Best, D. Hunter, Chung, Wendy K., Benjamin, Nicola, Elliott, C. Gregory, Eyries, Mélanie, Fischer, Christine, Gräf, Stefan, Hinderhofer, Katrin, Humbert, Marc, Keiles, Steven B., Loyd, James E., Morrell, Nicholas W., Newman, John H., Soubrier, Florent, Trembath, Richard C., Viales, Rebecca Rodríguez, Grünig, Ekkehard

“…ABSTRACT Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several causes including heterogeneous genetic defects. While…”
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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality by Machado, Rajiv D, Welch, Carrie L, Haimel, Matthias, Bleda, Marta, Colglazier, Elizabeth, Coulson, John D, Debeljak, Marusa, Ekstein, Josef, Fineman, Jeffrey R, Golden, William Christopher, Griffin, Emily L, Hadinnapola, Charaka, Harris, Michael A, Hirsch, Yoel, Hoover-Fong, Julie Elizabeth, Nogee, Lawrence, Romer, Lewis H, Vesel, Samo, Gräf, Stefan, Morrell, Nicholas W, Southgate, Laura, Chung, Wendy K

“…The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease…”
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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension by Hodgson, Joshua, Swietlik, Emilia M, Salmon, Richard M, Hadinnapola, Charaka, Nikolic, Ivana, Wharton, John, Guo, Jingxu, Liley, James, Haimel, Matthias, Bleda, Marta, Southgate, Laura, Machado, Rajiv D, Martin, Jennifer M, Treacy, Carmen M, Yates, Katherine, Daugherty, Louise C, Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Girerd, Barbara, Houweling, Arjan C, Howard, Luke, Humbert, Marc, Kiely, David G, Kovacs, Gabor, Lawrie, Allan, MacKenzie Ross, Robert V, Moledina, Shahin, Montani, David, Olschewski, Andrea, Olschewski, Horst, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J, Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R, Trembath, Richard C, Vonk Noordegraaf, Anton, Wort, Stephen J, Wilkins, Martin R, Yu, Paul B, Li, Wei, Gräf, Stefan, Upton, Paul D, Morrell, Nicholas W

“…Recently, rare heterozygous mutations in were identified in patients with pulmonary arterial hypertension (PAH). encodes the circulating BMP (bone…”
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Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era by Machado, Rajiv D, Southgate, Laura

“…Pulmonary arterial hypertension (PAH) is a highly heterogeneous disorder with a complex, multifactorial aetiology [...]…”
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies by Southgate, Laura, Machado, Rajiv D., Snape, Katie M., Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M., Branney, Peter A., Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie, Trembath, Richard C.

“…Regulation of cell proliferation and motility is essential for normal development. The Rho family of GTPases plays a critical role in the control of cell…”
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Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension by Nasim, Md. Talat, Ogo, Takeshi, Ahmed, Mohammad, Randall, Rebecca, Chowdhury, Hasnin M., Snape, Katie M., Bradshaw, Teisha Y., Southgate, Laura, Lee, Grace J., Jackson, Ian, Lord, Graham M., Gibbs, J. Simon R., Wilkins, Martin R., Ohta-Ogo, Keiko, Nakamura, Kazufumi, Girerd, Barbara, Coulet, Florence, Soubrier, Florent, Humbert, Marc, Morrell, Nicholas W., Trembath, Richard C., Machado, Rajiv D.

“…Heterozygous germline mutations of BMPR2 contribute to familial clustering of pulmonary arterial hypertension (PAH). To further explore the genetic basis of…”
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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension by Welch, Carrie L., Aldred, Micheala A., Balachandar, Srimmitha, Dooijes, Dennis, Eichstaedt, Christina A., Gräf, Stefan, Houweling, Arjan C., Machado, Rajiv D., Pandya, Divya, Prapa, Matina, Shaukat, Memoona, Southgate, Laura, Tenorio-Castano, Jair, Callejo, Emily P., Day, Kristina M., Macaya, Daniela, Maldonado-Velez, Gabriel, Chung, Wendy K., Archer, Stephen L., Auckland, Kathryn, Austin, Eric D., Badagliacca, Roberto, Barberà, Joan-Albert, Belge, Catharina, Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Elliott, C. Greg, Eyries, Melanie, Escribano Subías, Maria Pilar, Gall, Henning, Ghio, Stefano, Ghofrani, Ardeschir-Hossein, Grünig, Ekkehard, Hamid, Rizwan, Harbaum, Lars, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Howard, Luke S., Humbert, Marc, Kiely, David G., Langleben, David, Lawrie, Allan, Loyd, Jim E., Moledina, Shahin, Montani, David, Morrell, Nichols W., Nichols, William C., Olschewski, Andrea, Olschewski, Horst, Papa, Silvia, Pauciulo, Mike W., Provencher, Steve, Quarck, Rozenn, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Stewart, Duncan J., Sweatt, Andrew, Swietlik, Emilia M., Treacy, Carmen, Trembath, Richard C., Tura-Ceide, Olga, Vizza, Carmine Dario, Vonk Noordegraaf, Anton, Wilkins, Martin R., Zamanian, Roham T., Zateyshchikov, Dmitry

“…Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is…”
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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH by Zhu, Na, Swietlik, Emilia M, Welch, Carrie L, Pauciulo, Michael W, Hagen, Jacob J, Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A, Martin, Jennifer M, Treacy, Carmen M, Rosenzweig, Erika B, Krishnan, Usha, Coleman, Anna W, Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C, Wilkins, Martin R, Morrell, Nicholas W, Shen, Yufeng, Gräf, Stefan, Nichols, William C, Chung, Wendy K

“…Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary…”
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Stress Doppler Echocardiography in Relatives of Patients With Idiopathic and Familial Pulmonary Arterial Hypertension : Results of a Multicenter European Analysis of Pulmonary Artery Pressure Response to Exercise and Hypoxia by GRÜNIG, Ekkehard, WEISSMANN, Sylvia, HUMBERT, Marc, JANSSEN, Bart, KOBER, Jaroslaw, KOEHLER, Rolf, MACHADO, Rajiv D, MERELES, Derliz, NAEIJE, Robert, OLSCHEWSKI, Horst, PROVENCHER, Steeve, REICHENBERGER, Frank, EHLKEN, Nicola, RETAILLEAU, Kathleen, ROCCHI, Guido, SIMONNEAU, Gérald, TORBICKI, Adam, TREMBATH, Richard, SEEGER, Werner, FIJALKOWSKA, Anna, FISCHER, Christine, FOURME, Thierry, GALIE, Nazzareno, GHOFRANI, Ardeschir, HARRISON, Rachel E, HUEZ, Sandrine

“…This large, prospective, multicentric study was performed to analyze the distribution of tricuspid regurgitation velocity (TRV) values during exercise and…”
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Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension by ORMISTON, Mark L, CHIWEN CHANG, SOUTHWOOD, Mark, PEPKE-ZABA, Joanna, EXLEY, Andrew, TREMBATH, Richard C, COLUCCI, Francesco, WILLS, Mark, TROWSDALE, John, MORRELL, Nicholas W, LONG, Lu L, SOON, Elaine, JONES, Des, MACHADO, Rajiv, TREACY, Carmen, TOSHNER, Mark R, CAMPBELL, Kate, RIDING, Alex

“…Beyond their role as innate immune effectors, natural killer (NK) cells are emerging as important regulators of angiogenesis and vascular remodeling. Pulmonary…”
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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies by Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S V, Taylor, Edward J, Collinson, Claire S, Ruddy, Deborah, Snape, Katie M, Dallapiccola, Bruno, Tolmie, John L, Joss, Shelagh, Brancati, Francesco, Digilio, M Cristina, Graul-Neumann, Luitgard M, Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D, Trembath, Richard C

“…Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac…”
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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development by Denais, Celine, Dent, Carolyn L, Southgate, Laura, Hoyle, Jacqueline, Dafou, Dimitra, Trembath, Richard C, Machado, Rajiv D

“…Dyggve-Melchior-Clausen syndrome (DMC), a severe autosomal recessive skeletal disorder with mental retardation, is caused by mutation of the gene encoding…”
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Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension by Gelinas, Simone M, Benson, Clare E, Khan, Mohammed A, Berger, Rolf M F, Trembath, Richard C, Machado, Rajiv D, Southgate, Laura

“…Pulmonary arterial hypertension (PAH) describes a rare, progressive vascular disease caused by the obstruction of pulmonary arterioles, typically resulting in…”
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Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension by Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.

“…Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity…”
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