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5. Highlights from the International Chronic Thromboembolic Pulmonary Hypertension Congress 2021

Author

Simonneau, Gérald, Fadel, Elie, Noordegraaf, Anton Vonk, Toshner, Mark, Lang, Irene M, Klok, Frederikus A, McInnis, Micheal C, Screaton, Nicholas, Madani, Michael M, Martinez, Guillermo, Salaunkey, Kiran, Jenkins, David P, Matsubara, Hiromi, Brénot, Philippe, Hoeper, Marius M, Ghofrani, Hossein A, Jaïs, Xavier, Wiedenroth, Christoph B, Guth, Stefan, Kim, Nick H, Pepke-Zaba, Joanna, Delcroix, Marion, and Mayer, Eckhard

Subjects
Lung, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Humans, Hypertension, Pulmonary, Chronic Disease, Pulmonary Embolism, Pulmonary Artery, Angioplasty, Balloon, Endarterectomy, Anticoagulants, Medical Physiology, Respiratory System
Abstract

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare complication of acute pulmonary embolism. It is caused by persistent obstruction of pulmonary arteries by chronic organised fibrotic clots, despite adequate anticoagulation. The pulmonary hypertension is also caused by concomitant microvasculopathy which may progress without timely treatment. Timely and accurate diagnosis requires the combination of imaging and haemodynamic assessment. Optimal therapy should be individualised to each case and determined by an experienced multidisciplinary CTEPH team with the ability to offer all current treatment modalities. This report summarises current knowledge and presents key messages from the International CTEPH Conference, Bad Nauheim, Germany, 2021. Sessions were dedicated to 1) disease definition; 2) pathophysiology, including the impact of the hypertrophied bronchial circulation, right ventricle (dys)function, genetics and inflammation; 3) diagnosis, early after acute pulmonary embolism, using computed tomography and perfusion techniques, and supporting the selection of appropriate therapies; 4) surgical treatment, pulmonary endarterectomy for proximal and distal disease, and peri-operative management; 5) percutaneous approach or balloon pulmonary angioplasty, techniques and complications; and 6) medical treatment, including anticoagulation and pulmonary hypertension drugs, and in combination with interventional treatments. Chronic thromboembolic pulmonary disease without pulmonary hypertension is also discussed in terms of its diagnostic and therapeutic aspects.

Published
2023

6. Association of Phosphodiesterase-5 Inhibitor Treatment With Improved Survival in Pulmonary Hypertension Associated With COPD in the Pulmonary Vascular Research Institute GoDeep Meta-Registry

Author

Tello, Khodr, Yogeswaran, Athiththan, Majeed, Raphael W., Kiely, David G., Lawrie, Allan, Brittain, Evan, Annis, Jeffrey S., Olschewski, Horst, Kovacs, Gabor, Hassoun, Paul M., Balasubramanian, Aparna, Konswa, Ziad, Sweatt, Andrew J., Zamanian, Roham T., Wilkins, Martin R., Howard, Luke, Arvanitaki, Alexandra, Giannakoulas, George, Cajigas, Hector R., Frantz, Robert, Williams, Paul G., Frauendorf, Marlize, Marquardt, Kurt, Antoine, Tobiah, Fuenderich, Meike, Richter, Manuel, Grimminger, Friedrich, Ghofrani, Hossein-Ardeschir, Wilhelm, Jochen, and Seeger, Werner

Published
2025
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7. Safety and efficacy of rodatristat ethyl for the treatment of pulmonary arterial hypertension (ELEVATE-2): a dose-ranging, randomised, multicentre, phase 2b trial

Author

Sitbon, Olivier, Skride, Andris, Feldman, Jeremy, Sahay, Sandeep, Shlobin, Oksana A, McLaughlin, Vallerie, Ghofrani, Hossein-Ardeschir, Langleben, David, Parsley, Ed, D'Souza, Gwyn, Marmon, Tonya, Kamau-Kelley, Watiri, Jones, Renee, Grewal, Ravi, Wring, Steve, Palacios, Michelle, Naik, Himanshu, Denning, Jill, Lazarus, Howard M, and Humbert, Marc

Published
2024
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10. Tadalafil for Treatment of Combined Postcapillary and Precapillary Pulmonary Hypertension in Patients With Heart Failure and Preserved Ejection Fraction: A Randomized Controlled Phase 3 Study

Author

Hoeper, Marius M., Oerke, Britta, Wissmüller, Max, Leuchte, Hanno, Opitz, Christian, Halank, Michael, Seyfarth, Hans-Juergen, Baldus, Stephan, Bauersachs, Johann, Böhm, Michael, Ghofrani, Hossein-Ardeschir, Konstantinides, Stavros, Olsson, Karen M., Wachter, Rolf, Lam, Carolyn S.P., Aminossadati, Behnaz, and Rosenkranz, Stephan

Published
2024
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11. Application of REVEAL Lite 2 and COMPERA 2.0 risk scores to patients with pulmonary arterial hypertension switching to riociguat in the REPLACE study

Author

Benza, Raymond L., Simonneau, Gérald, Ghofrani, Hossein-Ardeschir, Corris, Paul A., Langleben, David, Rosenkranz, Stephan, White, R. James, Cheng, Chin-Chang, Campos, Frederico T.A. Figueiredo, Kim, Hyung-Kwan, Souza, Rogerio, Chang, Mikyung, Rahner, Claudia, Meier, Christian, and Hoeper, Marius M.

Published
2024
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12. Comparison of Contemporary Risk Scores in All Groups of Pulmonary Hypertension: A Pulmonary Vascular Research Institute GoDeep Meta-Registry Analysis

Author

Antoine, Tobiah, Backofen, Achim, Cannon, John, Damonte, Victoria, Echazarreta, Diego, Eichstaedt, Christina, Elwing, Jean, Förster, Kai, Gruenig, Ekkehard, Hilgendorff, Anne, Jose, Arun, Junaeda, Ernesto, Krieb, Philipp, Marquardt, Kurt, Osborn, Karen, Pepke-Zaba, Johanna, Tilea, Ioan, Varga, Andreea, Yogeswaran, Athiththan, Gall, Henning, Fünderich, Meike, Wilkins, Martin R., Howard, Luke, Kiely, David G., Lawrie, Allan, Hassoun, Paul M., Sirenklo, Yuriy, Torbas, Olena, Sweatt, Andrew J., Zamanian, Roham T., Williams, Paul G., Frauendorf, Marlize, Arvanitaki, Alexandra, Giannakoulas, George, Saleh, Khaled, Sabbour, Hani, Cajigas, Hector R., Frantz, Robert, Al Ghouleh, Imad, Chan, Stephen Y., Brittain, Evan, Annis, Jeffrey S., Pepe, Antonella, Ghio, Stefano, Orfanos, Stylianos, Anthi, Anastasia, Majeed, Raphael W., Wilhelm, Jochen, Ghofrani, Hossein Ardeschir, Richter, Manuel J., Grimminger, Friedrich, Sahay, Sandeep, Tello, Khodr, and Seeger, Werner

Published
2024
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14. Seralutinib in adults with pulmonary arterial hypertension (TORREY): a randomised, double-blind, placebo-controlled phase 2 trial

Author

Adir, Yochai, Baillie, Timothy, Baratz, David, Burger, Charles, Chakinala, Murali M., Cifrián Martínez, Jose Manual, Delcroix, Marion, Dwyer, Nathan, Elwing, Jean M., Fisher, Micah, Franco, Veronica, Grünig, Ekkehard, Highland, Kristin, Hill, Nicholas, Hirani, Naushad, Hoeper, Marius, Jansa, Pavel, Keogh, Anne, Kingrey, John, Lopez-Meseguer, Manuel, McConnell, John W., Mehta, Sanjay, Melendres-Groves, Lana, Opitz, Christian, Pepke-Zaba, Joanna, Pillutla, Priya, Rahaghi, Franck, Raina, Amresh, Raviv, Yael, Robinson, Jeffrey, Ryan, John, Sager, Jeffrey, Shapiro, Shelley, Simon, Marc, Smith, Kerri, Sobol, Irina R., Sood, Namita, Spikes, Leslie A., Stadler, Stefan, Stevens, Wendy, Sulica, Roxana, White, R. James, Frantz, Robert P, McLaughlin, Vallerie V, Sahay, Sandeep, Escribano Subías, Pilar, Zolty, Ronald L, Benza, Raymond L, Channick, Richard N, Chin, Kelly M, Hemnes, Anna R, Howard, Luke S, Sitbon, Olivier, Vachiéry, Jean-Luc, Zamanian, Roham T, Cravets, Matt, Roscigno, Robert F, Mottola, David, Osterhout, Robin, Bruey, Jean-Marie, Elman, Erin, Tompkins, Cindy-ann, Parsley, Ed, Aranda, Richard, Zisman, Lawrence S, and Ghofrani, Hossein-Ardeschir

Published
2024
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22. Imaging the right atrium in pulmonary hypertension: A systematic review and meta-analysis

Author

Richter, Manuel J., Fortuni, Federico, Alenezi, Fawaz, D'Alto, Michele, Badagliacca, Roberto, Brunner, Nathan W., van Dijk, Arie P., Douschan, Philipp, Gall, Henning, Ghio, Stefano, Giudice, Francesco Lo, Grünig, Ekkehard, Haddad, Francois, Howard, Luke, Rajagopal, Sudarshan, Stens, Niels, Stolfo, Davide, Thijssen, Dick H.J., Vizza, Carmine Dario, Zamanian, Roham T., Zhong, Liang, Seeger, Werner, Ghofrani, Hossein A., and Tello, Khodr

Published
2023
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23. Efficacy and safety of riociguat in combination therapy for patients with pulmonary arterial hypertension (PATENT studies).

Author

Ghofrani, Hossein-Ardeschir, Grünig, Ekkehard, Jansa, Pavel, Langleben, David, Rosenkranz, Stephan, Preston, Ioana, Rahaghi, Franck, Sood, Namita, Busse, Dennis, Meier, Christian, and Humbert, Marc

Subjects
endothelin receptor antagonists, hemodynamics, hypertension, prostaglandins, pulmonary, soluble guanylyl cyclase
Abstract

Many patients with pulmonary arterial hypertension do not achieve treatment goals with monotherapy, and therefore combination therapy is becoming the standard of care. The soluble guanylate cyclase stimulator riociguat is licensed for the treatment of pulmonary arterial hypertension; here we present findings from patients who were receiving combined riociguat plus endothelin receptor antagonists or non-intravenous prostanoids in the randomized, placebo-controlled PATENT-1 study and its open-label extension (PATENT-2). Moreover, we include new data from patients receiving early sequential combination therapy (three to six months of endothelin receptor antagonist treatment) or long-term background endothelin receptor antagonist therapy (>6 months). Patients were randomized to riociguat 2.5 mg-maximum (N = 131 pretreated patients) and placebo (N = 60 pretreated patients). Riociguat improved 6-min walking distance (PATENT-1 primary endpoint), functional capacity, and hemodynamics after 12 weeks in pretreated patients. The placebo-corrected changes in 6-min walking distance were +24 m in endothelin receptor antagonist-pretreated patients and +106 m in the small group of prostanoid-pretreated patients. In the early sequential combination and long-term background endothelin receptor antagonist groups, the placebo-corrected changes in 6-min walking distance were +65 m (95% CI: 17 to 113 m) and +13 m (95% CI: -8 to 33 m), respectively. In conclusion, these data suggest that early sequential combination of an endothelin receptor antagonist plus riociguat is a feasible treatment option. Both early sequential therapy and long-term background endothelin receptor antagonist plus riociguat were well tolerated in the PATENT studies.

Published
2020

24. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Author

Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe GN, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, Ross, Robert V MacKenzie, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Noordegraaf, Anton Vonk, Waisfisz, Quinten, and Walsworth, Anna K

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Genetics, Human Genome, Lung, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotyping Techniques, HLA-DP alpha-Chains, HLA-DP beta-Chains, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Pulmonary Arterial Hypertension, Risk Assessment, SOXF Transcription Factors, Signal Transduction, Survival Analysis, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium, Public Health and Health Services, Other Medical and Health Sciences, Cardiovascular medicine and haematology, Clinical sciences
Abstract

BackgroundRare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes.MethodsWe did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses.FindingsA locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity.InterpretationThis is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials.FundingUK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR.

Published
2019

25. Phenotyping of idiopathic pulmonary arterial hypertension: a registry analysis

Author

Hoeper, Marius M, Dwivedi, Krit, Pausch, Christine, Lewis, Robert A, Olsson, Karen M, Huscher, Doerte, Pittrow, David, Grünig, Ekkehard, Staehler, Gerd, Vizza, Carmine Dario, Gall, Henning, Distler, Oliver, Opitz, Christian, Gibbs, John Simon R, Delcroix, Marion, Park, Da-Hee, Ghofrani, Hossein Ardeschir, Ewert, Ralf, Kaemmerer, Harald, Kabitz, Hans-Joachim, Skowasch, Dirk, Behr, Juergen, Milger, Katrin, Lange, Tobias J, Wilkens, Heinrike, Seyfarth, Hans-Jürgen, Held, Matthias, Dumitrescu, Daniel, Tsangaris, Iraklis, Vonk-Noordegraaf, Anton, Ulrich, Silvia, Klose, Hans, Claussen, Martin, Eisenmann, Stephan, Schmidt, Kai-Helge, Swift, Andrew J, Thompson, Alfred A Roger, Elliot, Charlie A, Rosenkranz, Stephan, Condliffe, Robin, Kiely, David G, and Halank, Michael

Published
2022
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26. Exercise Limitation in Pulmonary Hypertension – Physiological Insights into the 6-Minute Walk Test.

Author

Kremer, Nils, Schaefer, Simon, Yogeswaran, Athiththan, Rako, Zvonimir, Ghofrani, Hossein-Ardeschir, Seeger, Werner, Kojonazarov, Baktybek, Heerdt, Paul M., Tedford, Ryan J., and Tello, Khodr

Subjects
BRAIN natriuretic factor, DIASTOLIC blood pressure, AEROBIC capacity, VENOUS pressure, SYSTOLIC blood pressure
Abstract

The document discusses a study on right ventricular-pulmonary arterial (RV-PA) coupling dynamics and their impact on exercise capacity in patients with pulmonary hypertension (PH) during the 6-minute walk test (6MWT). The study found that maintaining RV-PA coupling during exercise is crucial for 6MWT performance in PH patients, with uncoupling leading to decreased exercise capacity. The research highlights the importance of contractile reserve and the potential impact of RV function on real-world exercise capacity in PH patients. The study acknowledges limitations, such as the small sample size and the use of a pressure-only method for calculating RV-PA coupling during the 6MWT. [Extracted from the article]

Published
2024
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27. The Diagnostic Accuracy of an Electrocardiogram in Pulmonary Hypertension and the Role of "R V1, V2 + S I, aVL − S V1".

Author

Ley, Lukas, Wiedenroth, Christoph B., Guth, Stefan, Gold, Christian, Yogeswaran, Athiththan, Ghofrani, Hossein Ardeschir, and Bandorski, Dirk

Subjects
PULMONARY arterial hypertension, RIGHT ventricular hypertrophy, PULMONARY hypertension, GENERAL practitioners, PULMONARY artery
Abstract

Background: Pulmonary hypertension (PH) can cause characteristic electrocardiographic (ECG) changes due to right ventricular hypertrophy and/or strain. The aims of the present study were to explore the diagnostic accuracy of ECG parameters for the diagnosis of PH, applying the recently adjusted mean pulmonary artery pressure (mPAP) threshold of >20 mmHg, and to determine the role of "R V1, V2 + S I, aVL − S V1". Methods: Between July 2012 and November 2023, 100 patients without PH, with pulmonary arterial hypertension, or with chronic thromboembolic pulmonary hypertension were retrospectively enrolled. Results: The sensitivity and specificity of the ECG parameters for the diagnosis of PH varied from 3 to 98% and from 3 to 100% (means: 39% and 87%). After optimising the parameters' cut-offs, the mean sensitivity (39% to 66%) increased significantly but the mean specificity (87% to 74%) slightly decreased. "R V1, V2 + S I, aVL − S V1" was able to predict an mPAP >20 mmHg (OR: 34.33; p < 0.001) and a pulmonary vascular resistance >5 WU (OR: 17.14, p < 0.001) but could not predict all-cause mortality. Conclusions: Even with improved cut-offs, ECG parameters alone are not able to reliably diagnose or exclude PH because of their low sensitivity. However, they still might be helpful to reveal a suspicion of PH, especially in early diagnostic stages, e.g., in primary care with general practitioners or non-specialised cardiologists and pulmonologists. "R V1, V2 + S I, aVL − S V1" was able to predict the diagnosis of (severe) PH but could not predict all-cause mortality. Nevertheless, it can still be useful in risk stratification. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Author

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, and Morrell, Nicholas W

Subjects
Humans, Genetic Predisposition to Disease, Transforming Growth Factor beta, Membrane Transport Proteins, Prognosis, Case-Control Studies, Signal Transduction, Gene Expression Regulation, Base Sequence, Mutation, Models, Molecular, Adult, Female, Male, Aquaporin 1, Bone Morphogenetic Protein Receptors, Type II, Adenosine Triphosphatases, Growth Differentiation Factors, SOXF Transcription Factors, HEK293 Cells, Familial Primary Pulmonary Hypertension, Whole Genome Sequencing, Bone Morphogenetic Protein Receptors, Type II, Models, Molecular
Abstract

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify the missing heritability we perform whole-genome sequencing in 1038 PAH index cases and 6385 PAH-negative control subjects. Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in PAH. We demonstrate familial segregation of mutations in SOX17 and AQP1 with PAH. Mutations in GDF2, encoding a BMPR2 ligand, lead to reduced secretion from transfected cells. In addition, we identify pathogenic mutations in the majority of previously reported PAH genes, and provide evidence for further putative genes. Taken together these findings contribute new insights into the molecular basis of PAH and indicate unexplored pathways for therapeutic intervention.

Published
2018

34. Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Author

Eichstaedt, Christina A., Saßmannshausen, Zoe, Shaukat, Memoona, Cao, Ding, Xanthouli, Panagiota, Gall, Henning, Sommer, Natascha, Ghofrani, Hossein-Ardeschir, Seyfarth, Hans-Jürgen, Lerche, Marianne, Halank, Michael, Kleymann, Janina, Benjamin, Nicola, Harutyunova, Satenik, Egenlauf, Benjamin, Milger, Katrin, Rosenkranz, Stephan, Ewert, Ralf, Klose, Hans, Hoeper, Marius M., Olsson, Karen M., Lankeit, Mareike, Lange, Tobias J., Hinderhofer, Katrin, and Grünig, Ekkehard

Published
2022
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36. Author Correction: Deficiency of Axl aggravates pulmonary arterial hypertension via BMPR2

Author

Novoyatleva, Tatyana, Rai, Nabham, Kojonazarov, Baktybek, Veeroju, Swathi, Ben-Batalla, Isabel, Caruso, Paola, Shihan, Mazen, Presser, Nadine, Götz, Elsa, Lepper, Carina, Herpel, Sebastian, Manaud, Grégoire, Perros, Frédéric, Gall, Henning, Ghofrani, Hossein Ardeschir, Weissmann, Norbert, Grimminger, Friedrich, Wharton, John, Wilkins, Martin, Upton, Paul D., Loges, Sonja, Morrell, Nicholas W., Seeger, Werner, and Schermuly, Ralph T.

Published
2022
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40. Switching to riociguat versus maintenance therapy with phosphodiesterase-5 inhibitors in patients with pulmonary arterial hypertension (REPLACE): a multicentre, open-label, randomised controlled trial

Author

Olschewski, H, Delcroix, M, Andrade-Lima, M, de Amorim Corrêac, R, Figueiredo Campos, F, Ota Arakaki, J, Meyer, G, De Souza, R, Langleben, D, Al-Hiti, H, Jansa, P, Mellemkjær, S, Bauer, F, Montani, D, Simonneau, G, Drömann, D, Ghofrani, H-A, Grünig, E, Halank, M, Held, M, Hoeper, MM, Klose, H, Kneidinger, N, Leuchte, H, Opitz, C, Rosenkranz, S, Wilkens, H, Wirtz, H, Karvounis, H, Pitsiou, G, Orfanos, S, D'Alto, M, Ghio, S, Vizza, CD, Vitulo, P, Nakayama, T, Maki, H, Tatebe, S, de los Rios Ibarra, M, Pulido, T, Van Dijk, A, Vonk-Noordegraaf, A, Roleder, T, Castro, G, Loureiro, MJ, Robalo-Martins, S, Barberá, JA, Lázaro, M, Perez-Penate, GM, Román, A, Cheng, C-C, Hsu, C-H, Hsu, H-H, Atahan, E, Mogulkoc Bishop, N, Okumus, NG, Onen, Z, Chang, H-J, Chang, S-A, Lee, J-S, Kim, H-K, Coghlan, JG, Corris, PA, Church, AC, Condliffe, R, Gibbs, JSR, Peacock, AJ, Wort, S, Allen, R, Allen, S, Awdish, R, Benza, RL, DeSouza, S, Feldman, J, Johri, S, Klinger, JR, Layish, D, McConnell, J, McLaughlin, VV, Migliore, C, Rahaghi, F, Rischard, F, Robbins, I, Satterwhite, L, Shah, T, Sulica, R, White, RJ, Hoeper, Marius M, Al-Hiti, Hikmet, Benza, Raymond L, Chang, Sung-A, Corris, Paul A, Gibbs, J Simon R, Grünig, Ekkehard, Jansa, Pavel, Klinger, James R, Langleben, David, McLaughlin, Vallerie V, Meyer, Gisela M B, Ota-Arakaki, Jaquelina, Peacock, Andrew J, Pulido, Tomás, Rosenkranz, Stephan, Vizza, Carmine Dario, Vonk-Noordegraaf, Anton, White, R James, Chang, Mikyung, Kleinjung, Frank, Meier, Christian, Paraschin, Karen, Ghofrani, Hossein Ardeschir, and Simonneau, Gérald

Published
2021
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41. Quality of Life 3 and 12 Months Following Acute Pulmonary Embolism: Analysis From a Prospective Multicenter Cohort Study

Author

Valerio, Luca, Barco, Stefano, Jankowski, Marius, Rosenkranz, Stephan, Lankeit, Mareike, Held, Matthias, Gerhardt, Felix, Bruch, Leonhard, Ewert, Ralf, Faehling, Martin, Freise, Julia, Ghofrani, Hossein-Ardeschir, Grünig, Ekkehard, Halank, Michael, Hoeper, Marius M., Klok, Frederikus A., Leuchte, Hanno H., Mayer, Eckhard, Meyer, F. Joachim, Neurohr, Claus, Opitz, Christian, Schmidt, Kai-Helge, Seyfarth, Hans-Jürgen, Trudzinski, Franziska, Wachter, Rolf, Wilkens, Heinrike, Wild, Philipp S., and Konstantinides, Stavros V.

Published
2021
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43. Riociguat treatment in patients with chronic thromboembolic pulmonary hypertension: Final safety data from the EXPERT registry

Author

Caneva, Jorge, Tuhay, Graciela, Diez, Mirta, Talavera, Maria Lujan, Acosta, Adriana, Vulcano, Norberto, Bosio, Martin, Maldonado, Lorena, Deleo, Sabino, Melatini, Luciano, Keogh, Anne, Kotlyar, Eugene, Feenstra, John, Dwyer, Nathan, Adams, Heath, Stevens, Wendy, Steele, Peter, Proudman, Susanna, Minson, Robert, Reeves, Glenn, Lavender, Melanie, Ng, Benjamin, Mackenzie, Michele, Barry, Lisa, Gruenberger, Margarethe, Huber, Charlotte, Lang, Irene, Tilea, Ioana, Sadushi-Kolici, Roela, Löffler-Ragg, Judith, Feistmantl, Lisa-Theresa, Evrard, Patrick, Louis, Renaud, Guiot, Julien, Naldi, Marco, De Pauw, Michel, Mehta, Sanjay, Camacho, Rafael Conde, Tovar, Patricia Parada, Londoño, Alejandro, Campo, Felipe, Garcia, Paula, Lema, Camila, Orozco-Levi, Mauricio, Martinez, William, Gomez, Juan Esteban, Nielsen-Kudsk, Jens Erik, Mellemkjaer, Soren, Anton, Ly, Altraja, Alan, Vihinen, Tapani, Vasankari, Tuija, Sitbon, Olivier, Cottin, Vincent, Têtu, Laurent, Noël-Savina, Elise, Shearman, Nicole, Tayler, Susanne, Olzik, Ilona, Kulka, Christine, Grimminger, Jan, Simon, Marcel, Nolde, Anna, Oqueka, Tim, Harbaum, Lars, Egenlauf, Benjamin, Ewert, Ralf, Schulz, Christian, Regotta, Sabine, Kramer, Tilmann, Knoop-Busch, Susanne, Gerhardt, Felix, Konstantinides, Stavros, Pitsiou, Georgia, Stanopoulos, Ioannis, Sourla, Evdokia, Mouratoglou, Sofia, Karvounis, Haralambos, Pappas, Athanasios, Georgopoulos, Dimitrios, Fanaridis, Michail, Mitrouska, Ioanna, Michalis, Lampros, Pappas, Konstantinos, Kotsia, Anna, Gaine, Sean, Vizza, Carmine Dario, Manzi, Giovanna, Poscia, Roberto, Badagliacca, Roberto, Agostoni, Piergiuseppe, Bruno, Noemi, Farina, Stefania, D'Alto, Michele, Argiento, Paola, Correra, Anna, Di Marco, Giovanni Maria, Cresci, Chiara, Vannucchi, Vieri, Torricelli, Elena, Garcea, Alessio, Pesci, Alberto, Sardella, Luca, Paciocco, Giuseppe, Pane, Federico, D'Armini, Andrea Maria, Pin, Maurizio, Grazioli, Valentina, Massola, Giulia, Sciortino, Antonio, Prediletto, Renato, Bauleo, Carolina, Airò, Edoardo, Ndreu, Rudina, Pavlickova, Ivana, Lunardi, Claudio, Mulè, Massimiliano, Farruggio, Silvia, Costa, Serena, Galgano, Giuseppe, Petruzzi, Mario, De Luca, Anna, Lombardi, Francesco, Roncon, Loris, Conte, Luca, Picariello, Claudio, Wirtz, Gil, Alexandre, Myriam, Vonk-Noordegraaf, A., Boogaard, H., Mager, J., Reesink, H., van den Toorn, Leon M., Boomars, Karin, Andreassen, Arne K., Castro, Graça, Tania, Gonçalves, Baptista, Rui, Marinho, António, Shiang, Teresa, Oliveira, Ana, Coutinho, Daniel, Sousa, Joana, Loureiro, Maria José, Repolho, Débora, Martins Jesus, Susana Maria, Capinha, Marta, Agostinho, João, Cardoso, Tania, Rocha, Andreia, Espinha, Mafalda, Ivanov, Kyundyul Ivanovich, Alexeeva, Dalyana Eduardovna, Batalina, Marina Vadimovna, Hegya, Daria Viktorovna, Zvereva, Tatyana Nikolaevna, Avdeev, Sergey Nikolaevich, Tsareva, Natalia Anatolievna, Galyavich, Albert Sarvatovich, Nikolaevich, Bykov Aleksander, Filippov, Evgeny Vladimirovich, Yakovleva, Olga Eduardovna, Pavlova, Olga Borisovna, Skripkina, Elena Sergeevna, Martynyuk, Tamila Vitalievna, Bukatova, Irina Fedorovna, Tregubova, Anna Viktorovna, Platonov, Dmitry Yurievich, Kolomeytseva, Tatyana Mikhaylovna, Al Dalaan, Abdullah, Abdelsayed, Abeer Abeer, Weheba, Ihab, Saleemi, Sarferaz, Sakkijha, Hussam, Bohacekova, Marcela, Valkovicova, Tatiana, Farkasova, Iveta, Quezada, Carlos Andres, Piccari, Lucilla, Blanco, Isabel, Sebastian, Laura, Roman, Antonio, Lopez, Manuel, Otero, Remedios, Elias, Teresa, Jara, Luis, Asencio, Isabel, Arjona, Josefa Jiménez, Almagro, Raúl Menor, Cárdenas, Salvador López, García, Salvador Alcaraz, Rodríguez, Patricia Villanueva, Lopez, Raquel, Garcia, Alberto, Avilés, Francisco Fernandez, De La Pava, Sebastian, Yotti, Raquel, Peñate, Gregorio Pérez, Marrero, Fernando León, Cifrián Martínez, José Manuel, Martinez-Meñaca, Amaya, Alonso, Lecue Pilar, Rozas, Sonia Fernandez, Fernandez, David Iturbe, Cuesta, Victor Mora, Söderberg, Stefan, Bartfay, Sven-Erik, Rundqvist, Bengt, Alfetlawi, Monthir, Wodlin, Peter, Schwarz, Esther Irene, Speich, Rudolf, Lador, Frédéric, Rochat, Thierry, Gasche-Soccal, Paola, Hsu, Chih-Hsin, Lin, Tsung-Hsien, Su, Ho-Ming, Lai, Wen-Ter, Chu, Chun Yuan, Hsu, Po-Chao, Voon, Wen-Chol, Yen, Hsueh-Wei, Yih-Jer Wu, Jacob, Wu, Shu-Hao, Huang, Wen-Pin, Fong, Man-Cai, Huang, Chien-Lung, Kuo, Ping-Hung, Lin, Yen-Hung, Lin, Jiunn-Lee, Hung, Chi-Sheng, Wu, Cho-Kai, Sung, Shih-Hsien, Huang, Wei-Chun, Cheng, Chin-Chang, Kuo, Shu-Hung, Wang, Wen-Hwa, Ho, Wan-Jing, Hsu, Tsu-Shiu, Mutlu, Bülent, Atas, Halil, Ongen, Gul, Un, Zeynep, Okumus, Gulfer, Hanta, Ismail, Corris, Paul, Peacock, Andrew, Church, Colin, Toshner, Mark, Newnham, Michael, Ghofrani, Hossein-Ardeschir, Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gérald, Gall, Henning, Grünig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Escribano Subias, Pilar, Mielniczuk, Lisa M., Lange, Tobias J., Vachiéry, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barberá, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Šimková, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, and Hoeper, Marius M.

Published
2021
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44. Riociguat treatment in patients with pulmonary arterial hypertension: Final safety data from the EXPERT registry

Author

Caneva, Jorge, Tuhay, Graciela, Diez, Mirta, Talavera, Maria Lujan, Acosta, Adriana, Vulcano, Norberto, Bosio, Martin, Maldonado, Lorena, Deleo, Sabino, Melatini, Luciano, Keogh, Anne, Kotlyar, Eugene, Feenstra, John, Dwyer, Nathan, Adams, Heath, Stevens, Wendy, Steele, Peter, Proudman, Susanna, Minson, Robert, Reeves, Glenn, Lavender, Melanie, Ng, Benjamin, Mackenzie, Michele, Barry, Lisa, Gruenberger, Margarethe, Huber, Charlotte, Lang, Irene, Tilea, Ioana, Sadushi-Kolici, Roela, Löffler-Ragg, Judith, Feistmantl, Lisa-Theresa, Evrard, Patrick, Guiot, Julien, Naldi, Marco, De Pauw, Michel, Louis, Renaud, Mehta, Sanjay, Camacho, Rafael Conde, Tovar, Patricia Parada, Londoño, Alejandro, Campo, Felipe, Garcia, Paula, Lema, Camila, Orozco-Levi, Mauricio, Martinez, William, Gomez, Juan Esteban, Nielsen-Kudsk, Jens Erik, Mellemkjaer, Soren, Anton, Ly, Altraja, Alan, Vihinen, Tapani, Vasankari, Tuija, Sitbon, Olivier, Cottin, Vincent, Têtu, Laurent, Noël-Savina, Elise, Shearman, Nicole, Tayler, Susanne, Olzik, Ilona, Kulka, Christine, Grimminger, Jan, Simon, Marcel, Nolde, Anna, Oqueka, Tim, Harbaum, Lars, Egenlauf, Benjamin, Ewert, Ralf, Schulz, Christian, Regotta, Sabine, Kramer, Tilmann, Knoop-Busch, Susanne, Gerhardt, Felix, Konstantinides, Stavros, Pitsiou, Georgia, Stanopoulos, Ioannis, Sourla, Evdokia, Mouratoglou, Sofia, Karvounis, Haralambos, Pappas, Athanasios, Mitrouska, Ioanna, Georgopoulos, Dimitrios, Fanaridis, Michail, Michalis, Lampros, Pappas, Konstantinos, Kotsia, Anna, Gaine, Sean, Vizza, Carmine Dario, Manzi, Giovanna, Poscia, Roberto, Badagliacca, Roberto, Agostoni, Piergiuseppe, Bruno, Noemi, Farina, Stefania, D'Alto, Michele, Argiento, Paola, Correra, Anna, Di Marco, Giovanni Maria, Cresci, Chiara, Vannucchi, Vieri, Torricelli, Elena, Garcea, Alessio, Pesci, Alberto, Sardella, Luca, Paciocco, Giuseppe, Pane, Federico, D'Armini, Andrea Maria, Pin, Maurizio, Grazioli, Valentina, Massola, Giulia, Sciortino, Antonio, Prediletto, Renato, Bauleo, Carolina, Airò, Edoardo, Ndreu, Rudina, Pavlickova, Ivana, Lunardi, Claudio, Farruggio, Silvia, Costa, Serena, Mulè, Massimiliano, Galgano, Giuseppe, Petruzzi, Mario, De Luca, Anna, Lombardi, Francesco, Roncon, Loris, Conte, Luca, Picariello, Claudio, Wirtz, Gil, Alexandre, Myriam, Vonk-Noordegraaf, A., Boogaard, H., Mager, J., Reesink, H., van den Toorn, Leon M., Boomars, Karin, Andreassen, Arne K., Castro, Graça, Tania, Gonçalves, Baptista, Rui, Marinho, António, Shiang, Teresa, Oliveira, Ana, Coutinho, Daniel, Sousa, Joana, Loureiro, Maria José, Repolho, Débora, Martins Jesus, Susana Maria, Capinha, Marta, Agostinho, João, Cardoso, Tania, Rocha, Andreia, Espinha, Mafalda, Ivanov, Kyundyul Ivanovich, Alexeeva, Dalyana Eduardovna, Batalina, Marina Vadimovna, Hegya, Daria Viktorovna, Zvereva, Tatyana Nikolaevna, Avdeev, Sergey Nikolaevich, Tsareva, Natalia Anatolievna, Galyavich, Albert Sarvatovich, Nikolaevich, Bykov Aleksander, Filippov, Evgeny Vladimirovich, Yakovleva, Olga Eduardovna, Pavlova, Olga Borisovna, Skripkina, Elena Sergeevna, Martynyuk, Tamila Vitalievna, Bukatova, Irina Fedorovna, Tregubova, Anna Viktorovna, Platonov, Dmitry Yurievich, Kolomeytseva, Tatyana Mikhaylovna, Al Dalaan, Abdullah, Abdelsayed, Abeer Abeer, Weheba, Ihab, Saleemi, Sarferaz, Sakkijha, Hussam, Bohacekova, Marcela, Valkovicova, Tatiana, Farkasova, Iveta, Quezada, Carlos Andres, Piccari, Lucilla, Blanco, Isabel, Sebastian, Laura, Roman, Antonio, Lopez, Manuel, Otero, Remedios, Elias, Teresa, Jara, Luis, Asencio, Isabel, Arjona, Josefa Jiménez, Almagro, Raúl Menor, Cárdenas, Salvador López, García, Salvador Alcaraz, Rodríguez, Patricia Villanueva, Lopez, Raquel, Garcia, Alberto, Avilés, Francisco Fernandez, De La Pava, Sebastian, Yotti, Raquel, Peñate, Gregorio Pérez, Marrero, Fernando León, Cifrián Martínez, José Manuel, Martinez-Meñaca, Amaya, Alonso, Lecue Pilar, Rozas, Sonia Fernandez, Fernandez, David Iturbe, Cuesta, Victor Mora, Söderberg, Stefan, Bartfay, Sven-Erik, Rundqvist, Bengt, Alfetlawi, Monthir, Wodlin, Peter, Schwarz, Esther Irene, Speich, Rudolf, Lador, Frédéric, Rochat, Thierry, Gasche-Soccal, Paola, Hsu, Chih-Hsin, Lin, Tsung-Hsien, Su, Ho-Ming, Lai, Wen-Ter, Chu, Chun Yuan, Hsu, Po-Chao, Voon, Wen-Chol, Yen, Hsueh-Wei, Yih-Jer Wu, Jacob, Wu, Shu-Hao, Huang, Wen-Pin, Fong, Man-Cai, Huang, Chien-Lung, Kuo, Ping-Hung, Lin, Yen-Hung, Lin, Jiunn-Lee, Hung, Chi-Sheng, Wu, Cho-Kai, Sung, Shih-Hsien, Huang, Wei-Chun, Cheng, Chin-Chang, Kuo, Shu-Hung, Wang, Wen-Hwa, Ho, Wan-Jing, Hsu, Tsu-Shiu, Mutlu, Bülent, Atas, Halil, Ongen, Gul, Un, Zeynep, Okumus, Gulfer, Hanta, Ismail, Corris, Paul, Peacock, Andrew, Church, Colin, Toshner, Mark, Newnham, Michael, Hoeper, Marius M., Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gérald, Gall, Henning, Grünig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Escribano Subias, Pilar, Mielniczuk, Lisa M., Lange, Tobias J., Vachiéry, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barberà, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Šimková, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, and Ghofrani, Hossein-Ardeschir

Published
2021
Full Text
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50. Comparison of contemporary risk scores in all groups of pulmonary hypertension - a PVRI GoDeep meta-registry analysis

Author

Yogeswaran, Athiththan, primary, Gall, Henning, additional, Fünderich, Meike, additional, Wilkins, Martin R., additional, Howard, Luke, additional, Kiely, David G., additional, Lawrie, Allan, additional, Hassoun, Paul M., additional, Sirenklo, Yuriy, additional, Torbas, Olena, additional, Sweatt, Andrew J., additional, Zamanian, Roham T., additional, Williams, Paul G., additional, Frauendorf, Marlize, additional, Arvanitaki, Alexandra, additional, Giannakoulas, George, additional, Saleh, Khaled, additional, Sabbour, Hani, additional, Cajigas, Hector R., additional, Frantz, Robert, additional, Al Ghouleh, Imad, additional, Chan, Stephen Y., additional, Brittain, Evan, additional, Annis, Jeffrey S., additional, Pepe, Antonella, additional, Ghio, Stefano, additional, Orfanos, Stylianos, additional, Anthi, Anastasia, additional, Majeed, Raphael W., additional, Wilhelm, Jochen, additional, Ghofrani, Hossein Ardeschir, additional, Richter, Manuel J., additional, Grimminger, Friedrich, additional, Sahay, Sandeep, additional, Tello, Khodr, additional, Seeger, Werner, additional, Antoine, Tobiah, additional, Backofen, Achim, additional, Cannon, John, additional, Damonte, Victoria, additional, Echazarreta, Diego, additional, Eichstaedt, Christina, additional, Elwing, Jean, additional, Förster, Kai, additional, Gruenig, Ekkehard, additional, Hilgendorff, Anne, additional, Jose, Arun, additional, Junaeda, Ernesto, additional, Krieb, Philipp, additional, Marquardt, Kurt, additional, Osborn, Karen, additional, Pepke-Zaba, Johanna, additional, Tilea, Ioan, additional, and Varga, Andreea, additional

Published
2024
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