Literature DB >> 25189502

Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.

Guoliang Wang1, Linda Knight2, Ruirui Ji1, Patricia Lawrence3, Usama Kanaan4, Lei Li1, Anuka Das1, Bin Cui1, Wenxin Zou1, Daniel J Penny1, Yuxin Fan5.   

Abstract

Entities:  

Keywords:  BMPR2; Frameshift mutation; KCNA5; Pulmonary arterial hypertension

Mesh：

Substances：

Year:  2014        PMID： 25189502     DOI： 10.1016/j.ijcard.2014.08.124

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  16 in total

Review 1.  'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.

Authors:  Emilia M Swietlik; Matina Prapa; Jennifer M Martin; Divya Pandya; Kathryn Auckland; Nicholas W Morrell; Stefan Gräf
Journal:  Genes (Basel)       Date:  2020-11-26       Impact factor: 4.096

Review 2.  The Action of Smooth Muscle Cell Potassium Channels in the Pathology of Pulmonary Arterial Hypertension.

Authors:  Yasunobu Hayabuchi
Journal:  Pediatr Cardiol       Date:  2016-11-08       Impact factor: 1.655

Review 3.  Molecular genetic framework underlying pulmonary arterial hypertension.

Authors:  Laura Southgate; Rajiv D Machado; Stefan Gräf; Nicholas W Morrell
Journal:  Nat Rev Cardiol       Date:  2019-08-12       Impact factor: 32.419

4.  Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

Authors:  Rebecca Rodríguez Viales; Christina A Eichstaedt; Nicola Ehlken; Christine Fischer; Mona Lichtblau; Ekkehard Grünig; Katrin Hinderhofer
Journal:  PLoS One       Date:  2015-07-13       Impact factor: 3.240

5.  Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Authors:  Guillermo Pousada; Adolfo Baloira; Diana Valverde
Journal:  Sci Rep       Date:  2016-09-15       Impact factor: 4.379

6.  Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Authors:  Guillermo Pousada; Vincenzo Lupo; Sheila Cástro-Sánchez; María Álvarez-Satta; Ana Sánchez-Monteagudo; Adolfo Baloira; Carmen Espinós; Diana Valverde
Journal:  Sci Rep       Date:  2017-05-15       Impact factor: 4.379

Review 7.  Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Authors:  Rajiv D Machado; Laura Southgate; Christina A Eichstaedt; Micheala A Aldred; Eric D Austin; D Hunter Best; Wendy K Chung; Nicola Benjamin; C Gregory Elliott; Mélanie Eyries; Christine Fischer; Stefan Gräf; Katrin Hinderhofer; Marc Humbert; Steven B Keiles; James E Loyd; Nicholas W Morrell; John H Newman; Florent Soubrier; Richard C Trembath; Rebecca Rodríguez Viales; Ekkehard Grünig
Journal:  Hum Mutat       Date:  2015-10-12       Impact factor: 4.878

Review 8.  Molecular Mechanisms of Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension.

Authors:  Jane A Leopold; Bradley A Maron
Journal:  Int J Mol Sci       Date:  2016-05-18       Impact factor: 5.923

9.  Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report.

Authors:  Guoliang Wang; Rui Fan; Ruirui Ji; Wenxin Zou; Daniel J Penny; Nidhy P Varghese; Yuxin Fan
Journal:  BMC Pulm Med       Date:  2016-01-22       Impact factor: 3.317

10.  Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report.

Authors:  Rui Fan; Ruirui Ji; Wenxin Zou; Guoliang Wang; Hu Wang; Daniel James Penney; Jin Jun Luo; Yuxin Fan
Journal:  Exp Ther Med       Date:  2016-09-06       Impact factor: 2.447
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