Search Results - "Machado, Rajiv D."

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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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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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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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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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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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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BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension by Machado, Rajiv D, Pauciulo, Michael W., Thomson, Jennifer R., Lane, Kirk B., Morgan, Neil V., Wheeler, Lisa, Phillips III, John A., Newman, John, Williams, Denise, Galiè, Nazzareno, Manes, Alessandra, McNeil, Keith, Yacoub, Magdi, Mikhail, Ghada, Rogers, Paula, Corris, Paul, Humbert, Marc, Donnai, Dian, Martensson, Gunnar, Tranebjaerg, Lisbeth, Loyd, James E., Trembath, Richard C., Nichols, William C.

“…Primary pulmonary hypertension (PPH) is a potentially lethal disorder, because the elevation of the pulmonary arterial pressure may result in right-heart…”
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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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The Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension by Machado, Rajiv D.

“…Pulmonary arterial hypertension (PAH) is an incurable disorder clinically characterised by a sustained elevation of mean arterial pressure in the absence of…”
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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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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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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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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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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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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension by Lane, Kirk B, Machado, Rajiv D, Pauciulo, Michael W, Thomson, Jennifer R, Phillips, John A, Loyd, James E, Nichols, William C, Trembath, Richard C

“…Primary pulmonary hypertension (PPH), characterized by obstruction of pre-capillary pulmonary arteries, leads to sustained elevation of pulmonary arterial…”
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Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia by Trembath, Richard C, Thomson, Jennifer R, Machado, Rajiv D, Morgan, Neil V, Atkinson, Carl, Winship, Ingrid, Simonneau, Gerald, Galie, Nazzareno, Loyd, James E, Humbert, Marc, Nichols, William C, Berg, Jonathan, Manes, Alessandra, McGaughran, Julie, Pauciulo, Michael, Wheeler, Lisa, Morrell, Nicholas W

“…The lung disease could involve mutations in the gene encoding activin-receptor–like kinase 1. Pulmonary hypertension, defined as the sustained elevation of…”
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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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Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation by Ormiston, Mark L, Southgate, Laura, Treacy, Carmen, Pepke-Zaba, Joanna, Trembath, Richard C, Machado, Rajiv D, Morrell, Nicholas W

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Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension by MACHADO, Rajiv D, JAMES, Victoria, SOUTHWOOD, Mark, HARRISON, Rachel E, ATKINSON, Carl, STEWART, Susan, MORRELL, Nicholas W, TREMBATH, Richard C, ALDRED, Micheala A

“…Primary pulmonary arterial hypertension (PAH) is a potentially devastating condition resulting from occlusion of the pulmonary arterioles by the formation of…”
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