| (84) |
Designated Contracting States: |
|
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL
NO PL PT RO RS SE SI SK SM TR |
| (30) |
Priority: |
02.09.2016 EP 16187084
|
| (43) |
Date of publication of application: |
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10.07.2019 Bulletin 2019/28 |
| (73) |
Proprietors: |
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- Ruprecht-Karls-Universität Heidelberg
69117 Heidelberg (DE)
- Thoraxklinik-Heidelberg gGmbH
69126 Heidelberg (DE)
|
|
| (72) |
Inventors: |
|
- GRÜNIG, Ekkehard
69198 Schriesheim (DE)
- HINDERHOFER, Katrin
69118 Heidelberg (DE)
- EICHSTAEDT, Christina A.
69917 Heidelberg (DE)
|
| (74) |
Representative: Grahn, Sibylla Maria |
|
Boehmert & Boehmert
Anwaltspartnerschaft mbB
Pettenkoferstrasse 22
80336 München
80336 München (DE) |
| (56) |
References cited: :
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XP055323855, Retrieved from the Internet: URL:https://arupconsult.com/content/pulmon
ary-arterial-hypertension/?tab=tab_item-0 [retrieved on 2016-11-29] & Anonymous: "Pulmonary
Arterial Hypertension (PAH) Sequencing, Multigene ", , 29 November 2016 (2016-11-29),
XP055323834, Retrieved from the Internet: URL:http://ltd.aruplab.com/Tests/Pub/20093
50 [retrieved on 2016-11-29]
- AUSTIN ED; MA L; LEDUC C; BERMAN ROSENZWEIG E; BORCZUK A; PHILLIPS JA, 3RD ET AL.:
"Whole exome sequencing to identify a novel gene (caveolin-1) associated with human
pulmonary arterial hypertension", CIRC CARDIOVASC GENET, vol. 5, no. 3, 2012, pages
336-43, XP055323389, cited in the application
- DE JESUS PEREZ VA; YUAN K; LYUKSYUTOVA MA; DEWEY F; ORCHOLSKI ME; SHUFFLE EM ET AL.:
"Whole-Exome Sequencing Reveals TopBPl as a Novel Gene in Idiopathic Pulmonary Arterial
Hypertension", AM J RESPIR CRIT CARE MED., vol. 189, no. 10, 2014, pages 1260-72,
XP055323405, cited in the application
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of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension",
CIRC J., vol. 76, no. 6, 2012, pages 1501-8, XP055323399, cited in the application
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imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling
in pulmonary arterial hypertension", HUM MOL GENET, vol. 17, no. 11, 2008, pages 1683-94,
XP055323960, cited in the application
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ET AL.: "Epigenetik und Genetik der pulmonal arteriellen Hypertonie - neue Erkenntnisse
der letzten Jahre", DTSCH MED WOCHENSCHR., vol. 139, no. 04, 2014, pages 111-5, XP055323963,
cited in the application
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in patients with idiopathic pulmonary arterial hypertension", AMERICAN JOURNAL OF
PHYSIOLOGY. CELL PHYSIOLOGY., vol. 292, no. 5, 13 December 2006 (2006-12-13), pages
C1837-C1853, XP055323968, US ISSN: 0363-6143, DOI: 10.1152/ajpcell.00405.2006 cited
in the application
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of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted
exome capture", CLIN SCI (LOND, vol. 130, no. 17, 28 June 2016 (2016-06-28), pages
1559-69, XP009192626, cited in the application
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