Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension: a genetic study
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 lar...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
8 May 2020
|
| In: |
International journal of molecular sciences
Year: 2020, Jahrgang: 21, Heft: 9 |
| ISSN: | 1422-0067 |
| DOI: | 10.3390/ijms21093339 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/ijms21093339 Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/1422-0067/21/9/3339 
|
| Verfasserangaben: | 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 |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 173242246X | ||
| 003 | DE-627 | ||
| 005 | 20230427102118.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200914s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.3390/ijms21093339 |2 doi | |
| 035 | |a (DE-627)173242246X | ||
| 035 | |a (DE-599)KXP173242246X | ||
| 035 | |a (OCoLC)1341359719 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 32 |2 sdnb | ||
| 100 | 1 | |a Eichstaedt, Christina |e VerfasserIn |0 (DE-588)1110189419 |0 (DE-627)864806752 |0 (DE-576)47573503X |4 aut | |
| 245 | 1 | 0 | |a Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension |b a genetic study |c 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 |
| 264 | 1 | |c 8 May 2020 | |
| 300 | |a 12 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 14.09.2020 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a Janus kinase 2 (JAK2) | |
| 650 | 4 | |a chronic thromboembolic pulmonary hypertension | |
| 650 | 4 | |a genetic predisposition | |
| 650 | 4 | |a pulmonary vascular resistance | |
| 700 | 1 | |a Benjamin, Nicola |d 1981- |e VerfasserIn |0 (DE-588)1031704345 |0 (DE-627)737155302 |0 (DE-576)379407388 |4 aut | |
| 700 | 1 | |a Fischer, Christine |d 1955- |e VerfasserIn |0 (DE-588)128461993 |0 (DE-627)373010362 |0 (DE-576)297159674 |4 aut | |
| 700 | 1 | |a Egenlauf, Benjamin |d 1978- |e VerfasserIn |0 (DE-588)14348091X |0 (DE-627)646571001 |0 (DE-576)337293449 |4 aut | |
| 700 | 1 | |a Harutyunova, Satenik |d 1982- |e VerfasserIn |0 (DE-588)1119826160 |0 (DE-627)872910342 |0 (DE-576)480011184 |4 aut | |
| 700 | 1 | |a Xanthouli, Panagiota |d 1985- |e VerfasserIn |0 (DE-588)1080490698 |0 (DE-627)844732168 |0 (DE-576)453559662 |4 aut | |
| 700 | 1 | |a Marra, Alberto M. |d 1983- |e VerfasserIn |0 (DE-588)1120443504 |0 (DE-627)873382676 |0 (DE-576)480349045 |4 aut | |
| 700 | 1 | |a Hinderhofer, Katrin |d 1968- |e VerfasserIn |0 (DE-588)120651440 |0 (DE-627)704897490 |0 (DE-576)292322577 |4 aut | |
| 700 | 1 | |a Grünig, Ekkehard |e VerfasserIn |0 (DE-588)112535801 |0 (DE-627)618892605 |0 (DE-576)31856694X |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t International journal of molecular sciences |d Basel : Molecular Diversity Preservation International, 2000 |g 21(2020,9) Artikel-Nummer 3339, 12 Seiten |h Online-Ressource |w (DE-627)316340715 |w (DE-600)2019364-6 |w (DE-576)281194653 |x 1422-0067 |7 nnas |a Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension a genetic study |
| 773 | 1 | 8 | |g volume:21 |g year:2020 |g number:9 |g extent:12 |a Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension a genetic study |
| 856 | 4 | 0 | |u https://doi.org/10.3390/ijms21093339 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.mdpi.com/1422-0067/21/9/3339 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200914 | ||
| 993 | |a Article | ||
| 994 | |a 2020 | ||
| 998 | |g 112535801 |a Grünig, Ekkehard |m 112535801:Grünig, Ekkehard |d 910000 |d 950000 |d 950900 |d 50000 |e 910000PG112535801 |e 950000PG112535801 |e 950900PG112535801 |e 50000PG112535801 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |k 0/50000/ |p 16 |y j | ||
| 998 | |g 120651440 |a Hinderhofer, Katrin |m 120651440:Hinderhofer, Katrin |d 910000 |d 911500 |e 910000PH120651440 |e 911500PH120651440 |k 0/910000/ |k 1/910000/911500/ |p 15 | ||
| 998 | |g 1120443504 |a Marra, Alberto M. |m 1120443504:Marra, Alberto M. |d 910000 |d 950000 |d 950900 |e 910000PM1120443504 |e 950000PM1120443504 |e 950900PM1120443504 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 12 | ||
| 998 | |g 1080490698 |a Xanthouli, Panagiota |m 1080490698:Xanthouli, Panagiota |d 910000 |d 950000 |d 950900 |e 910000PX1080490698 |e 950000PX1080490698 |e 950900PX1080490698 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 11 | ||
| 998 | |g 1119826160 |a Harutyunova, Satenik |m 1119826160:Harutyunova, Satenik |d 910000 |d 950000 |d 950900 |e 910000PH1119826160 |e 950000PH1119826160 |e 950900PH1119826160 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 10 | ||
| 998 | |g 14348091X |a Egenlauf, Benjamin |m 14348091X:Egenlauf, Benjamin |d 910000 |d 950000 |d 950900 |e 910000PE14348091X |e 950000PE14348091X |e 950900PE14348091X |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 9 | ||
| 998 | |g 128461993 |a Fischer, Christine |m 128461993:Fischer, Christine |d 910000 |d 911500 |e 910000PF128461993 |e 911500PF128461993 |k 0/910000/ |k 1/910000/911500/ |p 5 | ||
| 998 | |g 1031704345 |a Benjamin, Nicola |m 1031704345:Benjamin, Nicola |d 910000 |d 950000 |d 950900 |e 910000PB1031704345 |e 950000PB1031704345 |e 950900PB1031704345 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 4 | ||
| 998 | |g 1110189419 |a Eichstaedt, Christina |m 1110189419:Eichstaedt, Christina |d 910000 |d 950000 |d 950900 |d 50000 |e 910000PE1110189419 |e 950000PE1110189419 |e 950900PE1110189419 |e 50000PE1110189419 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN173242246X |e 3753797111 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"note":["Gesehen am 14.09.2020"],"recId":"173242246X","name":{"displayForm":["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"]},"origin":[{"dateIssuedKey":"2020","dateIssuedDisp":"8 May 2020"}],"id":{"eki":["173242246X"],"doi":["10.3390/ijms21093339"]},"language":["eng"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"disp":"Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension a genetic studyInternational journal of molecular sciences","note":["Gesehen am 17.09.20"],"pubHistory":["1.2000 -"],"recId":"316340715","origin":[{"dateIssuedKey":"2000","publisher":"Molecular Diversity Preservation International","dateIssuedDisp":"2000-","publisherPlace":"Basel"}],"id":{"eki":["316340715"],"zdb":["2019364-6"],"issn":["1422-0067","1661-6596"]},"type":{"bibl":"periodical","media":"Online-Ressource"},"language":["eng"],"part":{"extent":"12","year":"2020","volume":"21","text":"21(2020,9) Artikel-Nummer 3339, 12 Seiten","issue":"9"},"titleAlt":[{"title":"IJMS"}],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"International journal of molecular sciences","title":"International journal of molecular sciences"}]}],"person":[{"family":"Eichstaedt","display":"Eichstaedt, Christina","given":"Christina","role":"aut"},{"display":"Benjamin, Nicola","family":"Benjamin","given":"Nicola","role":"aut"},{"role":"aut","given":"Christine","display":"Fischer, Christine","family":"Fischer"},{"role":"aut","given":"Benjamin","display":"Egenlauf, Benjamin","family":"Egenlauf"},{"role":"aut","display":"Harutyunova, Satenik","family":"Harutyunova","given":"Satenik"},{"display":"Xanthouli, Panagiota","family":"Xanthouli","given":"Panagiota","role":"aut"},{"role":"aut","family":"Marra","display":"Marra, Alberto M.","given":"Alberto M."},{"family":"Hinderhofer","display":"Hinderhofer, Katrin","given":"Katrin","role":"aut"},{"role":"aut","display":"Grünig, Ekkehard","family":"Grünig","given":"Ekkehard"}],"physDesc":[{"extent":"12 S."}],"title":[{"title":"Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension","subtitle":"a genetic study","title_sort":"Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension"}]} | ||
| SRT | |a EICHSTAEDTMYELOPROLI8202 | ||