Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population

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

(2017) Guillermo Pousada et al.   Scientific Reports

Improved Survival of Patients with Pulmonary Arterial Hypertension withBMPR2Mutations in the Last Decade

(2016) Sarasa Isobe et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Familial Chronic Thromboembolic Pulmonary Hypertension in a Pair of Japanese Brothers

(2016) Masaharu Kataoka et al.   CHEST

Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial HypertensionCLINICAL PERSPECTIVE

(2016) Cathelijne E. van der Bruggen et al.   CIRCULATION

Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome

(2016) Risa Kashima et al.   Science Signaling

Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome

(2016) Risa Kashima et al.   Science Signaling

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

(2016) Jonathan D W Evans et al.   Lancet Respiratory Medicine

De NovoMutations in theBMPR2Gene in Patients with Heritable Pulmonary Arterial Hypertension

(2015) Yuichi Momose et al.   ANNALS OF HUMAN GENETICS

Genetic counselling in a national referral centre for pulmonary hypertension

(2015) Barbara Girerd et al.   EUROPEAN RESPIRATORY JOURNAL

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

(2015) Rajiv D. Machado et al.   HUMAN MUTATION

Management of Pulmonary Arterial Hypertension

(2015) Vallerie V. McLaughlin et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Targeting BMP signalling in cardiovascular disease and anaemia

(2015) Nicholas W. Morrell et al.   Nature Reviews Cardiology

Heterozygous Null Bone Morphogenetic Protein Receptor Type 2 Mutations Promote SRC Kinase-dependent Caveolar Trafficking Defects and Endothelial Dysfunction in Pulmonary Arterial Hypertension

(2014) Allison R. Prewitt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension

(2014) Yu-Xuan Feng et al.   LUNG

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

(2013) D. Hunter Best et al.   CHEST

Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension

(2013) Masaharu Kataoka et al.   GENETICS IN MEDICINE

A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension

(2013) Yuki Aimi et al.   JOURNAL OF HUMAN GENETICS

TBX4mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

(2013) Wilhelmina S Kerstjens-Frederikse et al.   JOURNAL OF MEDICAL GENETICS

Updated Clinical Classification of Pulmonary Hypertension

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

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

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

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

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

Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar

(2010) Karina Portillo et al.   ARCHIVOS DE BRONCONEUMOLOGIA

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

(2009) H Wang et al.   CLINICAL GENETICS

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

Bone morphogenetic protein receptors and signal transduction

(2009) K. Miyazono et al.   JOURNAL OF BIOCHEMISTRY

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

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

Genetics and Genomics of Pulmonary Arterial Hypertension

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

Clinical Outcomes of Pulmonary Arterial Hypertension in Carriers ofBMPR2Mutation

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