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

Sex Affects Bone Morphogenetic Protein Type II Receptor Signaling in Pulmonary Artery Smooth Muscle Cells

(2015) Kirsty M. Mair et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Characteristics of Pulmonary Arterial Hypertension in Affected Carriers of a Mutation Located in the Cytoplasmic Tail of Bone Morphogenetic Protein Receptor Type 2

(2015) Barbara Girerd et al.   CHEST

Endothelial-to-Mesenchymal Transition in Pulmonary Hypertension

(2015) B. Ranchoux et al.   CIRCULATION

A founderEIF2AK4mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

(2015) J. Tenorio et al.   CLINICAL GENETICS

The Type I BMP Receptor ACVR1/ALK2 is Required for Chondrogenesis During Development

(2015) Diana Rigueur et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension

(2015) Lu Long et al.   NATURE MEDICINE

Somatic mosaicism inACVRL1with transmission to several offspring affected with severe pulmonary arterial hypertension

(2014) Gabriela Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pulmonary Arterial Hypertension as the First Manifestation in a Patient with Hereditary Hemorrhagic Telangiectasia

(2014) Tsukasa Ishiwata et al.   INTERNAL MEDICINE

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

(2014) Guoliang Wang et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension

(2014) Yu-Xuan Feng et al.   LUNG

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

(2014) Katrin Hinderhofer et al.   PLoS One

The eIF2α kinases: their structures and functions

(2013) Neysan Donnelly et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

(2013) D. Hunter Best et al.   CHEST

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension

(2013) Yan-Jun Chen et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Genetics and Genomics of Pulmonary Arterial Hypertension

(2013) Florent Soubrier et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Relevant Issues in the Pathology and Pathobiology of Pulmonary Hypertension

(2013) Rubin M. Tuder et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Right Heart Adaptation to Pulmonary Arterial Hypertension

(2013) Anton Vonk-Noordegraaf et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Updated Clinical Classification of Pulmonary Hypertension

(2013) Gerald Simonneau et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

(2013) Marine Germain et al.   NATURE GENETICS

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

(2013) Mélanie Eyries et al.   NATURE GENETICS

A Novel Channelopathy in Pulmonary Arterial Hypertension

(2013) Lijiang Ma et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

(2013) Nicole Pfarr et al.   RESPIRATORY RESEARCH

Outcomes of Childhood Pulmonary Arterial Hypertension in BMPR2 and ALK1 Mutation Carriers

(2012) Ayako Chida et al.   AMERICAN JOURNAL OF CARDIOLOGY

Longitudinal Analysis Casts Doubt on the Presence of Genetic Anticipation in Heritable Pulmonary Arterial Hypertension

(2012) Emma K. Larkin et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Role of BMPR2 Alternative Splicing in Heritable Pulmonary Arterial Hypertension Penetrance

(2012) Joy Cogan et al.   CIRCULATION

Missense Mutations of the BMPR1B (ALK6) Gene in Childhood Idiopathic Pulmonary Arterial Hypertension

(2012) Ayako Chida et al.   CIRCULATION JOURNAL

Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

(2012) Eric D. Austin et al.   Circulation-Cardiovascular Genetics

An inwardly rectifying K+ channel is required for patterning

(2012) G. R. Dahal et al.   DEVELOPMENT

Pre-implantation genetic diagnosis in pulmonary arterial hypertension due toBMPR2mutation: Figure 1–

(2012) Nelly Frydman et al.   EUROPEAN RESPIRATORY JOURNAL

Altered MicroRNA Processing in Heritable Pulmonary Arterial Hypertension

(2011) Kylie M. Drake et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

(2011) M Eyries et al.   CLINICAL GENETICS

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients

(2011) D. Liu et al.   EUROPEAN RESPIRATORY JOURNAL

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

(2011) Md. Talat Nasim et al.   HUMAN MUTATION

Rodent models of pulmonary hypertension: harmonisation with the world health organisation’s categorisation of human PH

(2011) J. Ryan et al.   INTERNATIONAL JOURNAL OF CLINICAL PRACTICE

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

(2011) D. H. Best et al.   JOURNAL OF MEDICAL GENETICS

Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying anACVRL1(ALK1) Mutation

(2010) Barbara Girerd et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Caveolae, caveolins, and cavins: complex control of cellular signalling and inflammation

(2010) J. H. Chidlow et al.   CARDIOVASCULAR RESEARCH

Basic Science of Pulmonary Arterial Hypertension for Clinicians

(2010) Stephen L. Archer et al.   CIRCULATION

Survival in Patients With Idiopathic, Familial, and Anorexigen-Associated Pulmonary Arterial Hypertension in the Modern Management Era

(2010) Marc Humbert et al.   CIRCULATION

A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects

(2010) Thomas Möller et al.   SCANDINAVIAN CARDIOVASCULAR JOURNAL

A Novel Insight Into the Mechanism of Pulmonary Hypertension Involving Caveolin-1 Deficiency and Endothelial Nitric Oxide Synthase Activation

(2010) You-Yang Zhao et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia

(2009) L B Smoot et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension

(2009) H Wang et al.   CLINICAL GENETICS

Emerging role of bone morphogenetic proteins in angiogenesis

(2009) Laurent David et al.   CYTOKINE & GROWTH FACTOR REVIEWS

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

(2009) Hu Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

(2009) E. D. Austin et al.   EUROPEAN RESPIRATORY JOURNAL

Defective pulmonary vascular remodeling in Smad8 mutant mice

(2009) Z. Huang et al.   HUMAN MOLECULAR GENETICS

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

(2009) M Shintani et al.   JOURNAL OF MEDICAL GENETICS

ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension

(2009) Vallerie V. McLaughlin et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetics and Genomics of Pulmonary Arterial Hypertension

(2009) Rajiv D. Machado et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders

(2009) Isabelle Mercier et al.   LABORATORY INVESTIGATION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mice expressing BMPR2R899X transgene in smooth muscle develop pulmonary vascular lesions

(2008) James West et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Increased pulmonary vascular resistance and defective pulmonary artery filling in caveolin-1−/− mice

(2008) Nikolaos A. Maniatis et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Clinical Outcomes of Pulmonary Arterial Hypertension in Carriers ofBMPR2Mutation

(2008) Benjamin Sztrymf et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

(2008) James West et al.   BMC Medical Genomics

Genetic Ablation of the Bmpr2 Gene in Pulmonary Endothelium Is Sufficient to Predispose to Pulmonary Arterial Hypertension

(2008) Kwon-Ho Hong et al.   CIRCULATION

Caveolae and endothelial dysfunction: Filling the caves in cardiovascular disease

(2008) Ying Xu et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension

(2008) M. Talat Nasim et al.   HUMAN MOLECULAR GENETICS

Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue

(2008) A. Sobolewski et al.   HUMAN MOLECULAR GENETICS

Clinical Implications of Determining BMPR2 Mutation Status in a Large Cohort of Children and Adults With Pulmonary Arterial Hypertension

(2008) Erika B. Rosenzweig et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Implications of Mutations of Activin Receptor-Like Kinase 1 Gene (ALK1) in Addition to Bone Morphogenetic Protein Receptor II Gene (BMPR2) in Children With Pulmonary Arterial Hypertension

(2007) Maya Fujiwara et al.   CIRCULATION JOURNAL

Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1

(2007) C J Mache et al.   THORAX