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Verfasst von:Eichstaedt, Christina [VerfasserIn]   i
 Benjamin, Nicola [VerfasserIn]   i
 Fischer, Christine [VerfasserIn]   i
 Egenlauf, Benjamin [VerfasserIn]   i
 Harutyunova, Satenik [VerfasserIn]   i
 Xanthouli, Panagiota [VerfasserIn]   i
 Marra, Alberto M. [VerfasserIn]   i
 Hinderhofer, Katrin [VerfasserIn]   i
 Grünig, Ekkehard [VerfasserIn]   i
Titel:Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension
Titelzusatz:a genetic study
Verf.angabe:Christina A. Eichstaedt, Jeremias Verweyen, Michael Halank, Nicola Benjamin, Christine Fischer, Eckhard Mayer, Stefan Guth, Christoph B. Wiedenroth, Benjamin Egenlauf, Satenik Harutyunova, Panagiota Xanthouli, Alberto M. Marra, Heinrike Wilkens, Ralf Ewert, Katrin Hinderhofer and Ekkehard Grünig
E-Jahr:2020
Jahr:8 May 2020
Umfang:12 S.
Fussnoten:Gesehen am 14.09.2020
Titel Quelle:Enthalten in: International journal of molecular sciences
Ort Quelle:Basel : Molecular Diversity Preservation International, 2000
Jahr Quelle:2020
Band/Heft Quelle:21(2020,9) Artikel-Nummer 3339, 12 Seiten
ISSN Quelle:1422-0067
 1661-6596
Abstract:Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease which is often caused by recurrent emboli. These are also frequently found in patients with myeloproliferative diseases. While myeloproliferative diseases can be caused by gene defects, the genetic predisposition to CTEPH is largely unexplored. Therefore, the objective of this study was to analyse these genes and further genes involved in pulmonary hypertension in CTEPH patients. A systematic screening was conducted for pathogenic variants using a gene panel based on next generation sequencing. CTEPH was diagnosed according to current guidelines. In this study, out of 40 CTEPH patients 4 (10%) carried pathogenic variants. One patient had a nonsense variant (c.2071A>T p.Lys691*) in the BMPR2 gene and three further patients carried the same pathogenic variant (missense variant, c.1849G>T p.Val617Phe) in the Janus kinase 2 (JAK2) gene. The latter led to a myeloproliferative disease in each patient. The prevalence of this JAK2 variant was significantly higher than expected (p < 0.0001). CTEPH patients may have a genetic predisposition more often than previously thought. The predisposition for myeloproliferative diseases could be an additional risk factor for CTEPH development. Thus, clinical screening for myeloproliferative diseases and genetic testing may be considered also for CTEPH patients.
DOI:doi:10.3390/ijms21093339
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.3390/ijms21093339
 Volltext: https://www.mdpi.com/1422-0067/21/9/3339
 DOI: https://doi.org/10.3390/ijms21093339
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Janus kinase 2 (JAK2)
 chronic thromboembolic pulmonary hypertension
 genetic predisposition
 pulmonary vascular resistance
K10plus-PPN:173242246X
Verknüpfungen:→ Zeitschrift

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