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The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 4, pp. 351 - 361
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1113 - 1127
Journal Article
Respiratory Research, ISSN 1465-9921, 06/2010, Volume 11, Issue 1, pp. 73 - 73
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1416 - 16
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-beta... 
SOX17 | GENE | ANGIOGENESIS | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | BMP9 | ASSOCIATION | EXPRESSION | NONSENSE MUTATION | BETA-RECEPTOR | CAVEOLIN-1 | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Gene sequencing
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 518 - 521
Journal Article
Circulation Research, ISSN 0009-7330, 08/2008, Volume 103, Issue 4, pp. 432 - 440
Journal Article
European Respiratory Journal, ISSN 0903-1936, 03/2019, Volume 53, Issue 3
Background: Heritable forms of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis (PVOD/PCH)... 
EIF2AK4 MUTATIONS | GENE | RESPIRATORY SYSTEM | ARTERIAL-HYPERTENSION | GUIDELINES | RECEPTOR | COHORT | BMP9 | OUTCOMES | ALK1
Journal Article
American Journal of Physiology - Cell Physiology, ISSN 0363-6143, 12/2012, Volume 303, Issue 11, pp. C1139 - C1145
Poirier O, Ciumas M, Eyries M, Montagne K, Nadaud S, Soubrier F. Inhibition of apelin expression by BMP signaling in endothelial cells. Am J Physiol Cell... 
Pulmonary endothelial cells | Hypoxia | SMAD | hypoxia | PHYSIOLOGY | SMAD PROTEINS | PULMONARY ARTERIAL-HYPERTENSION | BONE MORPHOGENETIC PROTEIN | NITRIC-OXIDE SYNTHASE | CELL BIOLOGY | pulmonary endothelial cells | PEPTIDE APELIN | INCREASED SUSCEPTIBILITY | II RECEPTOR | GENE-EXPRESSION | SMOOTH-MUSCLE-CELLS | CLINICAL-OUTCOMES | Humans | Microvessels - metabolism | Intercellular Signaling Peptides and Proteins - biosynthesis | Bone Morphogenetic Protein 4 - metabolism | Hypoxia - metabolism | Bone Morphogenetic Proteins - metabolism | Growth Differentiation Factors - pharmacology | Lung - metabolism | Signal Transduction - radiation effects | Bone Morphogenetic Proteins - pharmacology | Apelin | Cell Line | Endothelial Cells - metabolism | Intercellular Signaling Peptides and Proteins - genetics | Microvessels - drug effects | Neovascularization, Pathologic - chemically induced | Bone Morphogenetic Protein 4 - pharmacology | Gene Expression Regulation - drug effects | Growth Differentiation Factors - metabolism | Lung - drug effects | Bone Morphogenetic Protein 7 - metabolism | Signal Transduction - physiology | Neovascularization, Pathologic - metabolism | Smad Proteins - metabolism | Bone Morphogenetic Protein 7 - pharmacology | Bone morphogenetic proteins | Genetic aspects | Cellular signal transduction | Research | Properties | Gene expression | Endothelium
Journal Article
Familial Cancer, ISSN 1389-9600, 3/2013, Volume 12, Issue 1, pp. 27 - 33
Some patients happen to have a colorectal cancer with microsatellite instability (MSI), but without any alteration in Mismatch Repair (MMR) system (germline... 
Human Genetics | Biomedicine | Somatic mosaicism | Mismatch repair | Colorectal cancer | Cancer Research | Microsatellite instability |