List of works - Rajiv Machado

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

scientific article (publication date: September 2000)

Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation

scientific article published in July 2013

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

scientific article published in August 2005

CdGAP is required for transforming growth factor β- and Neu/ErbB-2-induced breast cancer cell motility and invasion.

scientific article

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension

scientific article

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

scientific article

Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension

scientific article

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

scientific article

Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

scientific article published on 16 August 2010

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension

scientific article

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension

scientific article

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

scientific article

Genetic association of the serotonin transporter in pulmonary arterial hypertension.

scientific article published on 6 January 2006

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

scientific article published on 05 December 2018

Genetics and genomics of pulmonary arterial hypertension

scientific article

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

scientific article published on 12 April 2018

Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension

article

Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial Hypertension

scientific article published on 01 February 2005

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

scientific article

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

scientific article published on 11 October 2011

Molecular genetic framework underlying pulmonary arterial hypertension

scientific article published on 12 August 2019

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension

scientific article

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

scientific article published on 28 September 2017

Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor

scientific article

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

scientific article published on 21 September 2015

Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

scientific article published in July 2002

Seeking the right targets: gene therapy advances in pulmonary arterial hypertension ⬇️

scientific article published on February 1, 2012

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

scientific article published on 15 June 2015

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

scientific article (publication date: 7 April 2009)

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension

scientific article

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension

scientific article published on 11 November 2020

List of works by Rajiv Machado

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

CdGAP is required for transforming growth factor β- and Neu/ErbB-2-induced breast cancer cell motility and invasion.

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

Genetic association of the serotonin transporter in pulmonary arterial hypertension.

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Genetics and genomics of pulmonary arterial hypertension

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension

Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial Hypertension

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

Molecular genetic framework underlying pulmonary arterial hypertension

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor

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

Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

Seeking the right targets: gene therapy advances in pulmonary arterial hypertension ⬇️

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

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

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension