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

autor

Mona Lichtblau

publicat a: PLOS One

date of publication: 2015-07-13

idioma: anglès

Cites articles 47

Date

Títol

Autors

2014-06-17

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension

Guillermo Pousada, Diana Valverde
2014-03-12

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years

Mona Lichtblau, Benjamin Egenlauf
2014-08-28

Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.
2014-08-19

Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations.

David Montani, Peter Dorfmuller, Olivier Sitbon, Xavier Jais, Marc Humbert, Gérald Simonneau, Barbara Girerd, Mélanie Eyries, Florent Soubrier, Pierantonio Laveneziana, Gilles Garcia, Thomas Similowski
2013-12-01

Genetics and genomics of pulmonary arterial hypertension

Rajiv Machado, Richard C Trembath, Marc Humbert, John H. Newman
2013-09-13

Heritable forms of pulmonary arterial hypertension
2013-09-05

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia

Sarah Young, Beth L Roman, Nicholas W Morrell, Carmelo Bernabeu
2013-07-01

A novel channelopathy in pulmonary arterial hypertension.

David-Alexandre Trégouët, Erika Berman-Rosenzweig, David Montani, Marc Humbert, James E Loyd, Mélanie Eyries, Florent Soubrier, Barbara Girerd, Kevin M Sampson, Marine Germain
2013-05-12

The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations

Kylie M Drake, Nicholas W Morrell
2013-01

SIFTS: Structure Integration with Function, Taxonomy and Sequences resource

Glen van Ginkel, Claire O'Donovan, Jose M Dana, Paul G Gane, Jules Jacobsen, Sameer Velankar, Maria-Jesus Martin, Gerard Kleywegt
2013-01

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes
2013-12-01

Updated clinical classification of pulmonary hypertension

Ardeschir Ghofrani, Horst Olschewski, Rogério Souza, Michael A Gatzoulis
2013-12-01

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension

David Montani, Peter Dorfmuller, Christine Lonjou, Olivier Sitbon, David-Alexandre Trégouët, Marc Humbert, Gérald Simonneau, Barbara Girerd, Elie Fadel, Mélanie Eyries, Florence Coulet, Florent Soubrier, Damien Bonnet
2012-12

Molecular pathogenesis of pulmonary arterial hypertension
2012-06-18

Exercise training in pulmonary arterial hypertension associated with connective tissue diseases
2012-04-02

Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension

James David West, Hyunjae (Ryan) Kim
2012-02-09

Safety and efficacy of exercise training in various forms of pulmonary hypertension

Mona Lichtblau, Ardeschir Ghofrani
2012-06-01

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.

Rodney Sinclair
2012-10-03

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

Peter Robinson
2011-12-23

Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension
2011-07-29

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

Horst Olschewski, Ardeschir Ghofrani, Werner Seeger
2011-01-18

KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?
2011-12-02

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
2011-02-09

Effect of exercise and respiratory training on clinical progression and survival in patients with severe chronic pulmonary hypertension

Ardeschir Ghofrani, Horst Olschewski
2010-08

MutationTaster evaluates disease-causing potential of sequence alterations
2010-04

A method and server for predicting damaging missense mutations

Peer Bork, Leonid Peshkin
2009-09

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

Arthur Wilde, Michael J Ackerman
2009-06-01

Genetics and genomics of pulmonary arterial hypertension.

John H. Newman, Oliver Eickelberg
2009-06-05

Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells

Nicholas W Morrell, Richard C Trembath
2009-04-07

Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia

Horst Olschewski, Sylvia Weissmann, Rajiv Machado, Anna Fijałkowska, Derliz Mereles, Ardeschir Ghofrani, Richard C Trembath, Nazzareno Galié, Werner Seeger, Marc Humbert, Gérald Simonneau, Adam Torbicki, Ekkehard Grünig, Robert Naeije, Bart J. Janssen, Thierry Fourme
2009-02-18

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension
2009-02-11

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

Article - wd:Q35689320

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