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humans (27) 27
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1. Full Text A Novel Channelopathy in Pulmonary Arterial Hypertension
by Ma, Lijiang and Roman-Campos, Danilo and Austin, Eric D and Eyries, Mélanie and Sampson, Kevin S and Soubrier, Florent and Germain, Marine and Trégouët, David-Alexandre and Borczuk, Alain and Rosenzweig, Erika Berman and Girerd, Barbara and Montani, David and Humbert, Marc and Loyd, James E and Kass, Robert S and Chung, Wendy K
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 4, pp. 351 - 361
In a family with pulmonary arterial hypertension, whole-exome sequencing led to identification of a mutation in the potassium-channel gene KCNK3 . Additional... 
DOMAIN POTASSIUM CHANNELS | MEDICINE, GENERAL & INTERNAL | HEREDITARY HEMORRHAGIC TELANGIECTASIA | GENE | ENDOGLIN | TASK-1 | SMOOTH-MUSCLE-CELLS | MUTATIONS | K+ CHANNEL | EXPRESSION | MORPHOGENETIC PROTEIN-RECEPTOR | Chlorobenzoates - therapeutic use | Humans | ortho-Aminobenzoates - therapeutic use | Molecular Sequence Data | Male | Mutation, Missense | Exome | Nerve Tissue Proteins - chemistry | Female | Hypertension, Pulmonary - drug therapy | Amino Acid Sequence | Genetic Predisposition to Disease | Lung - pathology | Nerve Tissue Proteins - physiology | Potassium Channels, Tandem Pore Domain - genetics | Familial Primary Pulmonary Hypertension | Hypertension, Pulmonary - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Channelopathies - genetics | Channelopathies - drug therapy | Pedigree | Potassium Channels, Tandem Pore Domain - physiology | Heterozygote | Potassium Channels, Tandem Pore Domain - chemistry | Cinnamates - therapeutic use | Causes of | Genetic aspects | Research | Genetic variation | Pulmonary hypertension | Hypertension | Proteins | Phospholipase | Missense mutation | Bone morphogenetic protein receptor type II | Channelopathy | Genes | Calcium channels (voltage-gated) | Mutation | Potassium channels | Drug therapy | Index Medicus | Abridged Index Medicus
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2. Full Text EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
by Eyries, Mélanie and Montani, David and Girerd, Barbara and Perret, Claire and Leroy, Anne and Lonjou, Christine and Chelghoum, Nadjim and Coulet, Florence and Bonnet, Damien and Dorfmüller, Peter and Fadel, Elie and Sitbon, Olivier and Simonneau, Gérald and Tregouët, David-Alexandre and Humbert, Marc and Soubrier, Florent
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 1, pp. 65 - 69
Pulmonary veno-occlusive disease (PVOD) is a rare and devastating cause of pulmonary hypertension that is characterized histologically by widespread fibrous... 
VENO-OCCLUSIVE DISEASE | CELLS | KINASE GCN2 | HEREDITARY HEMORRHAGIC TELANGIECTASIA | MECHANISM | ARTERIAL-HYPERTENSION | II RECEPTOR | GENETICS & HEREDITY | CAPILLARY HEMANGIOMATOSIS | IDENTIFICATION | CLINICAL-OUTCOMES | Pulmonary Veno-Occlusive Disease - physiopathology | Humans | Middle Aged | Protein-Serine-Threonine Kinases - genetics | Hypertension, Pulmonary - physiopathology | Male | Chromosome Mapping | Young Adult | Homozygote | Pulmonary Veno-Occlusive Disease - genetics | Pedigree | Adult | Female | Mutation | Protein-Serine-Threonine Kinases - metabolism | Causes of | Physiological aspects | Genetic aspects | Research | Gene mutations | Pulmonary hypertension | Studies | Genetic counseling | Genes | Tomography | Software | Genomes | Kinases | Experiments | Siblings | Life Sciences | Biochemistry, Molecular Biology | Genomics
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3. Full Text Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects
by Machado, Rajiv D and Southgate, Laura and Eichstaedt, Christina A and Aldred, Micheala A and Austin, Eric D and Best, D. Hunter and Chung, Wendy K and Benjamin, Nicola and Elliott, C. Gregory and Eyries, Mélanie and Fischer, Christine and Gräf, Stefan and Hinderhofer, Katrin and Humbert, Marc and Keiles, Steven B and Loyd, James E and Morrell, Nicholas W and Newman, John H and Soubrier, Florent and Trembath, Richard C and Viales, Rebecca Rodríguez and Grünig, Ekkehard
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1113 - 1127
ABSTRACT Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several causes including heterogeneous genetic defects. While... 
ACVRL1 | SMAD1 | SMAD4 | BMPR2 | haploinsufficiency | CAV1 | SMAD9 | KCNA5 | EIF2AK4 | locus heterogeneity | KCNK3 | ENG | Locus heterogeneity | Haploinsufficiency | HEREDITARY HEMORRHAGIC TELANGIECTASIA | BMPR2 MUTATIONS | ALK1 MUTATION | CLINICAL-FEATURES | BETA-RECEPTOR | II RECEPTOR | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | GERMLINE MUTATIONS | CHINESE PATIENTS | CAVEOLIN-1 | Genetic Predisposition to Disease | Hypertension, Pulmonary - diagnosis | Multigene Family | Bone Morphogenetic Protein Receptors, Type II - genetics | Genetic Association Studies | Signal Transduction | Humans | Hypertension, Pulmonary - genetics | Hypertension, Pulmonary - metabolism | Genetic Counseling | Bone Morphogenetic Protein Receptors, Type II - metabolism | Genetic Variation | Animals | Transforming Growth Factor beta - genetics | High-Throughput Nucleotide Sequencing | Mutation | Transforming Growth Factor beta - metabolism | Bone Morphogenetic Protein Receptors, Type II - chemistry | Disease Models, Animal | Genetic research | Bone morphogenetic proteins | Analysis | Pulmonary hypertension | Genetic disorders
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4. Full Text Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension
by Girerd, Barbara and Montani, David and Eyries, Mélanie and Yaici, Azzedine and Sztrymf, Benjamin and Coulet, Florence and Sitbon, Olivier and Simonneau, Gérald and Soubrier, Florent and Humbert, Marc
Respiratory Research, ISSN 1465-9921, 06/2010, Volume 11, Issue 1, pp. 73 - 73
Background: Previous studies indicate that patients with pulmonary arterial hypertension (PAH) carrying a mutation in the bone morphogenetic protein receptor... 
PENETRANCE | DIAGNOSIS | RECEPTOR MUTATIONS | HEREDITARY HEMORRHAGIC TELANGIECTASIA | DECAY | RESPIRATORY SYSTEM | GUIDELINES | EXPRESSION | CARRIERS | Age Factors | Blood Pressure - genetics | Humans | Middle Aged | Hypertension, Pulmonary - physiopathology | Male | Young Adult | Lung Transplantation | Time Factors | Adult | Female | France | Severity of Illness Index | Hypertension, Pulmonary - mortality | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Risk Assessment | Risk Factors | Hypertension, Pulmonary - surgery | Kaplan-Meier Estimate | Hypertension, Pulmonary - genetics | Phenotype | Activin Receptors, Type II - genetics | Sex Factors | Mutation | Gene mutations | Genetic aspects | Diagnosis | Research | Health aspects | Pulmonary hypertension | Risk factors | Hypertension | Statistical analysis | Disease | Pulmonary arteries | Nitric oxide | Family medical history | Gender | Intubation | Manuscripts | Blood Pressure | Hypertension, Pulmonary | Life Sciences | Pulmonology and respiratory tract | Bone Morphogenetic Protein Receptors, Type II | Human health and pathology | Activin Receptors, Type II
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5. Full Text Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
by Gräf, Stefan and Haimel, Matthias and Bleda, Marta and Hadinnapola, Charaka and Southgate, Laura and Li, Wei and Hodgson, Joshua and Liu, Bin and Salmon, Richard M and Southwood, Mark and Machado, Rajiv D and Martin, Jennifer M and Treacy, Carmen M and Yates, Katherine and Daugherty, Louise C and Shamardina, Olga and Whitehorn, Deborah and Holden, Simon and Aldred, Micheala and Bogaard, Harm J and Church, Colin and Coghlan, Gerry and Condliffe, Robin and Corris, Paul A and Danesino, Cesare and Eyries, Mélanie and Gall, Henning and Ghio, Stefano and Ghofrani, Hossein-Ardeschir and Gibbs, J. Simon R and Girerd, Barbara and Houweling, Arjan C and Howard, Luke and Humbert, Marc and Kiely, David G and Kovacs, Gabor and MacKenzie Ross, Robert V and Moledina, Shahin and Montani, David and Newnham, Michael and Olschewski, Andrea and Olschewski, Horst and Peacock, Andrew J and Pepke-Zaba, Joanna and Prokopenko, Inga and Rhodes, Christopher J and Scelsi, Laura and Seeger, Werner and Soubrier, Florent and Stein, Dan F and Suntharalingam, Jay and Swietlik, Emilia M and Toshner, Mark R and Van Heel, David A and Vonk Noordegraaf, Anton and Waisfisz, Quinten and Wharton, John and Wort, Stephen J and Ouwehand, Willem H and Soranzo, Nicole and Lawrie, Allan and Upton, Paul D and Wilkins, Martin R and Trembath, Richard C and Morrell, Nicholas W
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
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6. Full Text Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension
by Germain, Marine and Eyries, Mélanie and Montani, David and Poirier, Odette and Girerd, Barbara and Dorfmüller, Peter and Coulet, Florence and Nadaud, Sophie and Maugenre, Svetlana and Guignabert, Christophe and Carpentier, Wassila and Vonk-Noordegraaf, Anton and Lévy, Marilyne and Chaouat, Ari and Lambert, Jean-Charles and Bertrand, Marion and Dupuy, Anne-Marie and Letenneur, Luc and Lathrop, Mark and Amouyel, Philippe and De Ravel, Thomy J and Delcroix, Marion and Austin, Eric D and Robbins, Ivan M and Hemnes, Anna R and Loyd, James E and Berman-Rosenzweig, Erika and Barst, Robyn J and Chung, Wendy K and Simonneau, Gerald and Trégouët, David A and Humbert, Marc and Soubrier, Florent
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 518 - 521
Pulmonary arterial hypertension (PAH) is a rare, severe disease resulting from progressive obliteration of small-caliber pulmonary arteries by proliferating... 
POPULATION | RISK | BMPR2 MUTATION | EXPRESSION | DISEASE | GENETICS & HEREDITY | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | RNA, Messenger - genetics | Familial Primary Pulmonary Hypertension | Genotype | Hypertension, Pulmonary - genetics | Reverse Transcriptase Polymerase Chain Reaction | Case-Control Studies | Immunoenzyme Techniques | Phenotype | Pulmonary Artery - metabolism | Endothelium, Vascular - metabolism | Polymorphism, Single Nucleotide - genetics | Endothelium, Vascular - pathology | Genome, Human | Quantitative Trait Loci | Real-Time Polymerase Chain Reaction | Pulmonary Artery - pathology | Development and progression | Genetic aspects | Disease susceptibility | Research | Genomics | Pulmonary hypertension | Genomes | Mutation | Grants | Pulmonary arteries | Rodents | Quality control
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7. Full Text Hypoxia-Induced Apelin Expression Regulates Endothelial Cell Proliferation and Regenerative Angiogenesis
by Eyries, Mélanie and Siegfried, Géraldine and Ciumas, Mariana and Montagne, Kevin and Agrapart, Monique and Lebrin, Franck and Soubrier, Florent
Circulation Research, ISSN 0009-7330, 08/2008, Volume 103, Issue 4, pp. 432 - 440
Apelin has been identified as the endogenous ligand of the human orphan G protein-coupled receptor APJ. This peptide exerts a variety of cardiovascular effects... 
Endothelial cell growth-APJ | Hypoxia | Transcriptional regulation | Zebrafish model | VASCULAR DEVELOPMENT | SYSTEM | TARGET | hypoxia | CARDIAC & CARDIOVASCULAR SYSTEMS | endothelial cell growth-APJ | ZEBRAFISH | transcriptional regulation | TISSUE | zebrafish model | RECEPTOR | CARDIOVASCULAR DEVELOPMENT | PERIPHERAL VASCULAR DISEASE | APJ | LIGAND | HEMATOLOGY | BINDING | Endothelium, Vascular - cytology | Cell Proliferation | Muscle, Smooth, Vascular - metabolism | Humans | Molecular Sequence Data | Male | Hypoxia - metabolism | Intercellular Signaling Peptides and Proteins - metabolism | Transfection | Hypoxia-Inducible Factor 1, alpha Subunit - metabolism | Apelin | Amino Acid Sequence | Zebrafish Proteins - metabolism | Mice, Inbred C57BL | Cells, Cultured | Intercellular Signaling Peptides and Proteins - genetics | Zebrafish | Adipokines | Muscle, Smooth, Vascular - cytology | Chemokines - genetics | Mice, Knockout | Carrier Proteins - genetics | Neovascularization, Physiologic - physiology | Animals | Carrier Proteins - metabolism | Endothelium, Vascular - metabolism | Chemokines - metabolism | Mice | Zebrafish Proteins - genetics | Regeneration - immunology
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8. Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases
by Eyries, Mélanie and Montani, David and Nadaud, Sophie and Girerd, Barbara and Levy, Marilyne and Bourdin, Arnaud and Trésorier, Romain and Chaouat, Ari and Cottin, Vincent and Sanfiorenzo, Céline and Prevot, Grégoire and Reynaud-Gaubert, Martine and Dromer, Claire and Houeijeh, Ali and Nguyen, Karine and Coulet, Florence and Bonnet, Damien and Humbert, Marc and Soubrier, Florent
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
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9. Full Text Clinical and genetic findings in children with central nervous system arteriovenous fistulas
by Saliou, Guillaume and Eyries, Mélanie and Iacobucci, Marta and Knebel, Jean‐François and Waill, Marie‐Christine and Coulet, Florence and Ozanne, Augustin and Soubrier, Florent
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 972 - 980
Objective To assess the spectrum of genetic anomalies in a cohort of children presenting at least one cerebral or spinal pial arteriovenous fistula (AVF), and... 
CAPILLARY MALFORMATION | HEREDITARY HEMORRHAGIC TELANGIECTASIA | ALK1 MUTATION | FAMILIES | RASA1 MUTATIONS | PHENOTYPES | NEUROSCIENCES | CLINICAL NEUROLOGY | MANIFESTATIONS | FEATURES | Intracranial Arteriovenous Malformations - diagnostic imaging | Arteriovenous Fistula - diagnostic imaging | Humans | Spinal Cord - diagnostic imaging | Child, Preschool | Infant | Male | Mutation - genetics | Genetic Testing - methods | Intracranial Arteriovenous Malformations - genetics | Female | Child | Arteriovenous Fistula - genetics | Cohort Studies | Heart failure | EphB4 gene | Central nervous system | Fistulae | Hemorrhage | Patients | Genetic screening | Bleeding | Heart rate | Hemangioma | Point mutation | Skin | Mutation | Diagnosis | Children | Heart diseases
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10. Full Text Inhibition of apelin expression by BMP signaling in endothelial cells
by Poirier, Odette and Ciumas, Mariana and Eyries, Mélanie and Montagne, Kevin and Nadaud, Sophie and Soubrier, Florent
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
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11. Full Text Genetic analyses in a cohort of children with pulmonary hypertension
by Levy, Marilyne and Eyries, Mélanie and Szezepanski, Isabelle and Ladouceur, Magalie and Nadaud, Sophie and Bonnet, Damien and Soubrier, Florent
European Respiratory Journal, ISSN 0903-1936, 10/2016, Volume 48, Issue 4, pp. 1118 - 1126
The prevalence of germline mutations in paediatric pulmonary hypertension (PH) is poorly documented. The objective of this study was to determine the mutation... 
BMPR2 MUTATION | ALK1 MUTATION | RESPIRATORY SYSTEM | CONGENITAL HEART-DISEASE | ARTERIAL-HYPERTENSION | CHILDHOOD | CARRIERS | CLINICAL-OUTCOMES | REGISTRY | Pulmonary Veno-Occlusive Disease - diagnosis | Humans | Child, Preschool | Male | Familial Primary Pulmonary Hypertension - diagnosis | Heart Defects, Congenital - genetics | Pulmonary Veno-Occlusive Disease - genetics | DNA Mutational Analysis | Female | Child | Pulmonary Veno-Occlusive Disease - complications | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Familial Primary Pulmonary Hypertension - genetics | Treatment Outcome | T-Box Domain Proteins - genetics | Heart Defects, Congenital - complications | Pedigree | Activin Receptors, Type II - genetics | Adolescent | Heart Defects, Congenital - diagnosis | Heterozygote | Hemodynamics | Mutation | Cohort Studies
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12. Full Text Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors
by Sourrouille, Isabelle and Coulet, Florence and Lefevre, Jeremie H and Colas, Chrystelle and Eyries, Mélanie and Svrcek, Magali and Bardier-Dupas, Armelle and Parc, Yann and Soubrier, Florent
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 |