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1. Full Text Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
by Fontebasso, Adam M and Papillon-Cavanagh, Simon and Schwartzentruber, Jeremy and Nikbakht, Hamid and Gerges, Noha and Fiset, Pierre-Olivier and Bechet, Denise and Faury, Damien and De Jay, Nicolas and Ramkissoon, Lori A and Corcoran, Aoife and Jones, David T. W and Sturm, Dominik and Johann, Pascal and Tomita, Tadanori and Goldman, Stewart and Nagib, Mahmoud and Bendel, Anne and Goumnerova, Liliana and Bowers, Daniel C and Leonard, Jeffrey R and Rubin, Joshua B and Alden, Tord and Browd, Samuel and Geyer, J Russell and Leary, Sarah and Jallo, George and Cohen, Kenneth and Gupta, Nalin and Prados, Michael D and Carret, Anne-Sophie and Ellezam, Benjamin and Crevier, Louis and Klekner, Almos and Bognar, Laszlo and Hauser, Peter and Garami, Miklos and Myseros, John and Dong, Zhifeng and Siegel, Peter M and Malkin, Hayley and Ligon, Azra H and Albrecht, Steffen and Pfister, Stefan M and Ligon, Keith L and Majewski, Jacek and Jabado, Nada and Kieran, Mark W
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 462 - 466
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Astrocytoma - genetics | Immunohistochemistry | Humans | Brain Neoplasms - genetics | Molecular Sequence Data | In Situ Hybridization, Fluorescence | DNA Copy Number Variations - genetics | DNA Methylation - genetics | Mutation - genetics | Activin Receptors, Type I - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Bone Morphogenetic Proteins - metabolism | Animals | Base Sequence | Child | Smad Proteins - metabolism | Gene Expression Regulation, Neoplastic - genetics | Cell receptors | Gene mutations | Activins | Genetic aspects | Health aspects | Astrocytoma | Cancer in children | DNA methylation | Medical research | Mutation | Kinases | Index Medicus
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2. Full Text A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
by LeMerrer, Martine and Zasloff, Michael and Morhart, Rolf and Kaplan, Frederick S and Cho, Tae-Joon and Choi, In Ho and Glaser, David L and Connor, J Michael and Smith, Roger and Triffitt, James T and Shore, Eileen M and Urtizberea, J Andoni and Feldman, George J and Xu, Meiqi and Delai, Patricia and Rogers, John G and Fenstermacher, David A and Brown, Matthew A and FOP Int Res Consortium
Nature genetics, ISSN 1061-4036, 05/2006, Volume 38, Issue 5, pp. 525 - 527
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Cell receptors | Miscellaneous | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Diseases of striated muscles. Neuromuscular diseases | Amino Acid Sequence | Humans | RNA, Messenger - genetics | Molecular Sequence Data | Male | Activin Receptors, Type I - genetics | Chromosomes, Human, Pair 2 | Sequence Homology, Amino Acid | Animals | Pedigree | Myositis Ossificans - genetics | Female | Mutation | Activin Receptors, Type I - chemistry | Complications and side effects | Gene mutations | Connective tissue diseases | Bone morphogenetic proteins | Genetic aspects | Research | Risk factors | Skeletal system | Disease | Genetic linkage | Index Medicus
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3. Full Text Genetic and pharmacological targeting of activin receptor-like kinase 1 impairs tumor growth and angiogenesis
by Cunha, Sara I and Pardali, Evangelia and Thorikay, Midory and Anderberg, Charlotte and Hawinkels, Lukas and Goumans, Marie-José and Seehra, Jasbir and Heldin, Carl-Henrik and Dijke, Peter Ten and Pietras, Kristian
The Journal of experimental medicine, ISSN 0022-1007, 01/2010, Volume 207, Issue 1, pp. 85 - 100
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Activin Receptors, Type II - metabolism | Growth Differentiation Factor 2 - metabolism | Recombinant Fusion Proteins - pharmacology | Humans | Growth Differentiation Factor 2 - genetics | Vascular Endothelial Growth Factor A - metabolism | Vascular Endothelial Growth Factor A - genetics | Neovascularization, Pathologic - pathology | Activin Receptors, Type I - pharmacology | Activin Receptors, Type II - pharmacology | Neoplasms, Experimental - genetics | Fibroblast Growth Factor 2 - metabolism | Growth Differentiation Factors - genetics | Transforming Growth Factor beta | Cell Line | Gene Dosage - genetics | Endothelial Cells - metabolism | Activin Receptors, Type I - metabolism | Mice, Transgenic | Signal Transduction - genetics | Activin Receptors, Type I - genetics | Growth Differentiation Factors - metabolism | Animals | Fibroblast Growth Factor 2 - genetics | Signal Transduction - drug effects | Neovascularization, Pathologic - drug therapy | Activin Receptors, Type II - genetics | Immunoglobulin Fc Fragments - pharmacology | Recombinant Fusion Proteins - genetics | Neovascularization, Pathologic - genetics | Mice | Neovascularization, Pathologic - metabolism | Neoplasms, Experimental - metabolism | Endothelial Cells - pathology | Immunoglobulin Fc Fragments - genetics | Neoplasms, Experimental - drug therapy | Index Medicus | Medicin och hälsovetenskap
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4. Full Text Balancing the activation state of the endothelium via two distinct TGF-β type I receptors
by Sideras, Paschalis and Goumans, Marie-José and Itoh, Susumu and ten Dijke, Peter and Rosendahl, Alexander and Valdimarsdottir, Gudrun
The EMBO journal, ISSN 0261-4189, 04/2002, Volume 21, Issue 7, pp. 1743 - 1753
ALK | TGF‐β | Smad | signal transduction | angiogenesis | Angiogenesis | Signal transduction | TGF-β | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Endothelium, Vascular - cytology | Phosphorylation | Receptors, Transforming Growth Factor beta - genetics | Protein-Serine-Threonine Kinases | Repressor Proteins | Cercopithecus aethiops | Helix-Loop-Helix Motifs | Phosphoproteins - metabolism | Endothelium, Vascular - physiology | DNA-Binding Proteins - metabolism | Dose-Response Relationship, Drug | Inhibitor of Differentiation Protein 1 | Cattle | Cell Division | Plasminogen Activator Inhibitor 1 - genetics | Transforming Growth Factor beta3 | Transforming Growth Factor beta1 | Signal Transduction | Cells, Cultured | Activin Receptors, Type I - metabolism | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Activin Receptors, Type I - genetics | Smad5 Protein | Transforming Growth Factor beta - pharmacology | Animals | Receptors, Transforming Growth Factor beta - metabolism | Trans-Activators - metabolism | Kinetics | COS Cells | Transforming Growth Factor beta - metabolism | Smad2 Protein | Index Medicus | Biological Sciences | TGF-beta | Naturvetenskap | Biokemi och molekylärbiologi | Biochemistry and Molecular Biology | Biologi | Natural Sciences
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5. Full Text Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
by Loeys, Bart L and Schwarze, Ulrike and Holm, Tammy and Callewaert, Bert L and Thomas, George H and Pannu, Hariyadarshi and De Backer, Julie F and Oswald, Gretchen L and Symoens, Sofie and Manouvrier, Sylvie and Roberts, Amy E and Faravelli, Francesca and Greco, M. Alba and Pyeritz, Reed E and Milewicz, Dianna M and Coucke, Paul J and Cameron, Duke E and Braverman, Alan C and Byers, Peter H and De Paepe, Anne M and Dietz, Harry C
The New England journal of medicine, ISSN 0028-4793, 08/2006, Volume 355, Issue 8, pp. 788 - 798
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cardiology. Vascular system | Biological and medical sciences | General aspects | Medical sciences | Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous | Blood and lymphatic vessels | Aneurysm, Dissecting - genetics | Receptors, Transforming Growth Factor beta - genetics | Collagen Type III - biosynthesis | Humans | Protein-Serine-Threonine Kinases | Male | Abnormalities, Multiple - mortality | Mutation, Missense | Activin Receptors, Type I - genetics | Syndrome | Pregnancy | Ehlers-Danlos Syndrome - genetics | Phenotype | Abnormalities, Multiple - therapy | DNA Mutational Analysis | Pregnancy Complications - genetics | Survival Analysis | Germ-Line Mutation | Adult | Female | Aortic Aneurysm - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Arteries - abnormalities | Aneurysms | Causes of | Genetic code | Genetic aspects | Gene mutations | Analysis | Index Medicus | Abridged Index Medicus
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6. Full Text Role of bone morphogenetic proteins in sprouting angiogenesis: differential BMP receptor‐dependent signaling pathways balance stalk vs. tip cell competence
by Benn, Andreas and Hiepen, Christian and Osterland, Marc and Schütte, Christof and Zwijsen, An and Knaus, Petra
The FASEB journal, ISSN 0892-6638, 11/2017, Volume 31, Issue 11, pp. 4720 - 4733
cell migration | ALK2 | ALK3 | p38 MAPK | SMAD1/5 | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | MAP Kinase Signaling System - physiology | Human Umbilical Vein Endothelial Cells - metabolism | Humans | Vascular Endothelial Growth Factor A - metabolism | Vascular Endothelial Growth Factor A - genetics | Vascular Endothelial Growth Factor Receptor-2 - genetics | HSP27 Heat-Shock Proteins - genetics | Intercellular Signaling Peptides and Proteins - metabolism | Bone Morphogenetic Protein 6 - genetics | Smad5 Protein - metabolism | Bone Morphogenetic Protein 2 - metabolism | Human Umbilical Vein Endothelial Cells - cytology | Smad1 Protein - genetics | p38 Mitogen-Activated Protein Kinases - metabolism | Smad5 Protein - genetics | Bone Morphogenetic Protein 2 - genetics | Intercellular Signaling Peptides and Proteins - genetics | Bone Morphogenetic Protein Receptors, Type I - genetics | Vascular Endothelial Growth Factor Receptor-2 - metabolism | p38 Mitogen-Activated Protein Kinases - genetics | Activin Receptors, Type I - metabolism | Bone Morphogenetic Protein Receptors, Type I - metabolism | Activin Receptors, Type I - genetics | Neovascularization, Physiologic - physiology | Bone Morphogenetic Protein 6 - metabolism | HSP27 Heat-Shock Proteins - metabolism | Smad1 Protein - metabolism | Complex formation | Genes | Clinical trials | Cell adhesion & migration | Proteins | Angiogenesis | Signal transduction | Receptors | Pathways | Vascular endothelial growth factor | Protein-tyrosine kinase | Enhancer-of-split protein | Bone morphogenetic protein 6 | Tyrosine | Medical research | Bone morphogenetic protein 2 | Heat shock proteins | Gene expression | Spheroids | Endothelial cells | Bone morphogenetic protein receptor type I | Endothelium | Signaling | Antiangiogenics | Hsp27 protein | Activin | Cell migration | Heat shock | Index Medicus | SMAD1 | Research
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7. Full Text Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells
by David, Laurent and Mallet, Christine and Mazerbourg, Sabine and Feige, Jean-Jacques and Bailly, Sabine
Blood, ISSN 0006-4971, 03/2007, Volume 109, Issue 5, pp. 1953 - 1961
Life Sciences & Biomedicine | Hematology | Science & Technology | Activin Receptors, Type II - metabolism | RNA, Small Interfering - genetics | Cell Proliferation | Response Elements | Signal Transduction | Endothelial Cells - metabolism | Humans | Cells, Cultured | Antigens, CD - genetics | Promoter Regions, Genetic - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Antigens, CD - metabolism | Bone Morphogenetic Proteins - metabolism | Animals | Endothelial Cells - cytology | Smad5 Protein - metabolism | Activin Receptors, Type II - genetics | Smad1 Protein - metabolism | Mice | Smad8 Protein - metabolism | Bone Morphogenetic Proteins - genetics | Cell Movement | Index Medicus | Abridged Index Medicus | Promoter Regions, Genetic | Endothelial Cells | Cellular Biology | Bone Morphogenetic Protein Receptors, Type II | Smad5 Protein | Life Sciences | Activin Receptors, Type II | Smad1 Protein | RNA, Small Interfering | Bone Morphogenetic Proteins | Smad8 Protein | Antigens, CD
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8. Full Text Bone Morphogenetic Protein (BMP) and Activin Type II Receptors Balance BMP9 Signals Mediated by Activin Receptor-like Kinase-1 in Human Pulmonary Artery Endothelial Cells
by Paul D. Upton and Rachel J. Davies and Richard C. Trembath and Nicholas W. Morrell
The Journal of biological chemistry, ISSN 0021-9258, 06/2009, Volume 284, Issue 23, pp. 15794 - 15804
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Activin Receptors, Type II - metabolism | Cell Line | RNA, Small Interfering - genetics | Bone Morphogenetic Proteins - physiology | Bone Morphogenetic Protein Receptors - genetics | Humans | RNA, Messenger - genetics | Smad Proteins - genetics | Receptors, Transforming Growth Factor beta - physiology | DNA Primers | Endothelium, Vascular - enzymology | Reverse Transcriptase Polymerase Chain Reaction | Endothelium, Vascular - physiology | Pulmonary Artery - physiology | Microcirculation - physiology | Bone Morphogenetic Proteins - metabolism | RNA Interference | Growth Differentiation Factors - genetics | Signal Transduction - physiology | Transcription, Genetic | Aorta - cytology | Growth Differentiation Factors - physiology | Index Medicus | Molecular Basis of Cell and Developmental Biology
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9. Full Text The molecular genetics of Marfan syndrome and related disorders
by Robinson, P N and Arteaga-Solis, E and Baldock, C and Collod-Béroud, G and Booms, P and De Paepe, A and Dietz, H C and Guo, G and Handford, P A and Judge, D P and Kielty, C M and Loeys, B and Milewicz, D M and Ney, A and Ramirez, F and Reinhardt, D P and Tiedemann, K and Whiteman, P and Godfrey, M
Journal of medical genetics, ISSN 0022-2593, 10/2006, Volume 43, Issue 10, pp. 769 - 787
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Fibrillin-1 | Receptors, Transforming Growth Factor beta - genetics | Humans | Protein-Serine-Threonine Kinases | Databases, Genetic | Extracellular Matrix Proteins - physiology | Fibrillins | Protein Denaturation - genetics | Activin Receptors, Type I - genetics | Marfan Syndrome - genetics | Latent TGF-beta Binding Proteins - genetics | Contractile Proteins - physiology | Animals | Models, Biological | Models, Animal | Marfan Syndrome - complications | Mice | Microfibrils - metabolism | Microfilament Proteins - genetics | Genetic aspects | Gene mutations | Analysis | Marfan syndrome | Studies | Epidermal growth factor | Pathogenesis | Genes | Chemical bonds | Genetics | Extracellular matrix | Mutation | Index Medicus | Activin Receptors, Type I | Latent TGF-beta Binding Proteins | Marfan Syndrome | Life Sciences | Aortic Aneurysm, Thoracic | Extracellular Matrix Proteins | Microfilament Prot | Microfibrils | Aneurysm, Dissecting | Contractile Proteins | TGFβ | Review | fibrillin | microfibril
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