Whole-Exome Sequencing RevealsTopBP1as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension

Role for DNA Damage Signaling in Pulmonary Arterial Hypertension

(2013) Jolyane Meloche et al.   CIRCULATION

In search of low-frequency and rare variants affecting complex traits

(2013) K. Panoutsopoulou et al.   HUMAN MOLECULAR GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

FK506 activates BMPR2, rescues endothelial dysfunction, and reverses pulmonary hypertension

(2013) Edda Spiekerkoetter et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2013) Marine Germain et al.   NATURE GENETICS

A Novel Channelopathy in Pulmonary Arterial Hypertension

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

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

(2013) Miao-Xin Li et al.   PLoS Genetics

Hypoxia promotes cell proliferation by modulating E2F1 in chicken pulmonary arterial smooth muscle cells

(2013) Ying Yang et al.   Journal of Animal Science and Biotechnology

Loss of Adenomatous Poliposis Coli-α3 Integrin Interaction Promotes Endothelial Apoptosis in Mice and Humans

(2012) Vinicio A. de Jesus Perez et al.   CIRCULATION RESEARCH

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

Novel Role of ADAMTS-5 Protein in Proteoglycan Turnover and Lipoprotein Retention in Atherosclerosis

(2012) Athanasios Didangelos et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Altered MicroRNA Processing in Heritable Pulmonary Arterial Hypertension

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

Silencing of Sodium–Hydrogen Exchanger 1 Attenuates the Proliferation, Hypertrophy, and Migration of Pulmonary Artery Smooth Muscle Cells via E2F1

(2011) Lunyin Yu et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

ATR signalling: more than meeting at the fork

(2011) Edward A. Nam et al.   BIOCHEMICAL JOURNAL

Regulatory T Cells Limit Vascular Endothelial Injury and Prevent Pulmonary Hypertension

(2011) Rasa Tamosiuniene et al.   CIRCULATION RESEARCH

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

(2011) Frederick E. Dewey et al.   PLoS Genetics

The Genetics of Pulmonary Arterial Hypertension in the Post-BMPR2 Era

(2011) Joshua P. Fessel et al.   Pulmonary Circulation

Somatic Chromosome Abnormalities in the Lungs of Patients with Pulmonary Arterial Hypertension

(2010) Micheala A. Aldred et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Treslin Collaborates with TopBP1 in Triggering the Initiation of DNA Replication

(2010) Akiko Kumagai et al.   CELL

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

(2010) Marc Humbert et al.   CIRCULATION

Dpb11/TopBP1 plays distinct roles in DNA replication, checkpoint response and homologous recombination

(2010) Susanne M. Germann et al.   DNA REPAIR

TopBP1 functions with 53BP1 in the G1 DNA damage checkpoint

(2010) Rachele Cescutti et al.   EMBO JOURNAL

Histidine-rich glycoprotein functions cooperatively with cell surface heparan sulfate on phagocytes to promote necrotic cell uptake

(2010) Ivan K. H. Poon et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Hydroxyurea (therapeutics and mechanism): Metabolism, carbamoyl nitroso, nitroxyl, radicals, cell signaling and clinical applications

(2010) Peter Kovacic   MEDICAL HYPOTHESES

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

High affinity interaction between histidine-rich glycoprotein and the cell surface type ATP synthase on T-cells

(2009) Takeshi Ohta et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension

(2009) et al.   CIRCULATION

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Bone morphogenetic protein 2 induces pulmonary angiogenesis via Wnt–β-catenin and Wnt–RhoA–Rac1 pathways

(2009) Vinicio A. de Jesus Perez et al.   JOURNAL OF CELL BIOLOGY

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

Genome-wide association studies of coronary artery disease and heart failure: where are we going?

(2009) Gerald W Dorn et al.   PHARMACOGENOMICS

Pulmonary arterial hypertension: the most devastating vascular complication of systemic sclerosis

(2009) V. McLaughlin et al.   RHEUMATOLOGY

The Cancer Paradigm of Severe Pulmonary Arterial Hypertension

(2008) Pradeep R. Rai et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Molecular pathogenesis of pulmonary arterial hypertension

(2008) Marlene Rabinovitch   JOURNAL OF CLINICAL INVESTIGATION

Proteomic Identification and Functional Validation of Activins and Bone Morphogenetic Protein 11 as Candidate Novel Muscle Mass Regulators

(2008) Tatyana A. Souza et al.   MOLECULAR ENDOCRINOLOGY

Smooth Muscle Protein 22α–Mediated Patchy Deletion of Bmpr1a Impairs Cardiac Contractility but Protects Against Pulmonary Vascular Remodeling

(2007) Nesrine El-Bizri et al.   CIRCULATION RESEARCH