Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
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Title
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
Authors
Keywords
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Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-05-09
DOI
10.1038/s41598-017-02074-8
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Note: Only part of the references are listed.- Bone Morphogenic Protein Type 2 Receptor Mutation-Independent Mechanisms of Disrupted Bone Morphogenetic Protein Signaling in Idiopathic Pulmonary Arterial Hypertension
- (2016) Jarrod W. Barnes et al. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension
- (2016) Guillermo Pousada et al. BMC GENETICS
- Differential regulation of translation and endocytosis of alternatively spliced forms of the type II bone morphogenetic protein (BMP) receptor
- (2016) Ayelet R. Amsalem et al. MOLECULAR BIOLOGY OF THE CELL
- BMPR2 gene therapy for PAH acts via Smad and non-Smad signalling
- (2016) Rebecca L. Harper et al. RESPIROLOGY
- Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants
- (2016) David L. Masica et al. PLoS Computational Biology
- Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
- (2016) Omar Soukarieh et al. PLoS Genetics
- Functional Mutations in 5′UTR of the BMPR2 Gene Identified in Chinese Families with Pulmonary Arterial Hypertension
- (2016) Jian Wang et al. Pulmonary Circulation
- Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations
- (2016) Guillermo Pousada et al. Scientific Reports
- Roles for Synonymous Codon Usage in Protein Biogenesis
- (2015) Julie L. Chaney et al. Annual Review of Biophysics
- 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
- 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension
- (2015) Nazzareno Galiè et al. EUROPEAN RESPIRATORY JOURNAL
- Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension
- (2015) Anne John et al. GENE
- Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects
- (2015) Rajiv D. Machado et al. HUMAN MUTATION
- Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension
- (2015) Guillermo Pousada et al. Orphanet Journal of Rare Diseases
- Splicing defects caused by exonic mutations inPKD1as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease
- (2015) Felix Claverie-Martin et al. RNA Biology
- Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?
- (2015) Rebecca Rodríguez Viales et al. PLoS One
- Genetics of pulmonary hypertension
- (2014) D. Hunter Best et al. CURRENT OPINION IN CARDIOLOGY
- Characterization of an apparently synonymousF5mutation causing aberrant splicing and factor V deficiency
- (2014) F. Nuzzo et al. HAEMOPHILIA
- Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
- (2014) Neeraj Sharma et al. HUMAN MUTATION
- 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
- 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
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Novel Mutations in BMPR2, ACVRL1 and KCNA5 Genes and Hemodynamic Parameters in Patients with Pulmonary Arterial Hypertension
- (2014) Guillermo Pousada et al. PLoS One
- Investigation of Endoglin Wild-Type and Missense Mutant Protein Heterodimerisation Using Fluorescence Microscopy Based IF, BiFC and FRET Analyses
- (2014) Tassilo Förg et al. PLoS One
- Functional Genetic Variants of TNFSF15 and Their Association with Gastric Adenocarcinoma: A Case-Control Study
- (2014) Zhi Zhang et al. PLoS One
- Functional Changes in Pulmonary Arterial Endothelial Cells Associated with BMPR2 Mutations
- (2014) Hu Wang et al. PLoS One
- Expression of Mutant BMPR-II in Pulmonary Endothelial Cells Promotes Apoptosis and a Release of Factors that Stimulate Proliferation of Pulmonary Arterial Smooth Muscle Cells
- (2014) Xudong Yang et al. Pulmonary Circulation
- Correction of NonsenseBMPR2andSMAD9Mutations by Ataluren in Pulmonary Arterial Hypertension
- (2013) Kylie M. Drake et al. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- The transforming growth factor-β-bone morphogenetic protein type signalling pathway in pulmonary vascular homeostasis and disease
- (2013) Paul D. Upton et al. EXPERIMENTAL PHYSIOLOGY
- Genetics and Genomics of Pulmonary Arterial Hypertension
- (2013) Florent Soubrier et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Definitions and Diagnosis of Pulmonary Hypertension
- (2013) Marius M. Hoeper 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
- Pulmonary arterial hypertension
- (2013) David Montani et al. Orphanet Journal of Rare Diseases
- Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells
- (2013) María José Aparisi et al. PLoS One
- Abnormal Trafficking of Endogenously Expressed BMPR2 Mutant Allelic Products in Patients with Heritable Pulmonary Arterial Hypertension
- (2013) Andrea L. Frump et al. PLoS One
- Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension
- (2013) Nicole Pfarr et al. RESPIRATORY 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
- Rho-kinase inhibition alleviates pulmonary hypertension in transgenic mice expressing a dominant-negative type II bone morphogenetic protein receptor gene
- (2011) Tadashi Yasuda et al. AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
- Understanding the contribution of synonymous mutations to human disease
- (2011) Zuben E. Sauna et al. NATURE REVIEWS GENETICS
- Structural biology of poly(A) site definition
- (2011) Qin Yang et al. Wiley Interdisciplinary Reviews-RNA
- The Genetics of Pulmonary Arterial Hypertension in the Post-BMPR2 Era
- (2011) Joshua P. Fessel et al. Pulmonary Circulation
- PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis
- (2010) Vanessa Rodrigues Paixão-Côrtes et al. ARCHIVES OF ORAL BIOLOGY
- Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
- (2010) David N. Cooper et al. HUMAN MUTATION
- Pulmonary arterial hypertension in women
- (2010) O. Sanchez et al. REVUE DES MALADIES RESPIRATOIRES
- 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
- Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
- (2009) Vincenzo Lupo et al. HUMAN MOLECULAR GENETICS
- Penetrance of pulmonary arterial hypertension is modulated by the expression of normalBMPR2allele
- (2009) Rizwan Hamid et al. HUMAN MUTATION
- Genetics and Genomics of Pulmonary Arterial Hypertension
- (2009) Rajiv D. Machado et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Sequence Variants inBMPR2and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease
- (2009) Silvia Ulrich et al. RESPIRATION
- Caveolin-1 regulates BMPRII localization and signaling in vascular smooth muscle cells
- (2008) Jeffrey W. Wertz et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Msx1 and Msx2 are functional interacting partners of T-box factors in the regulation of Connexin43
- (2008) Kees-Jan Boogerd et al. CARDIOVASCULAR RESEARCH
- Molecular Mechanisms of Pulmonary Arterial Hypertension
- (2008) Rachel J. Davies et al. CHEST
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