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science & technology (41) 41
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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
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases | Medical sciences | Pneumology | 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
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
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3. Full Text Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
by Graf, 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 Aled, Micheala and Bogaard, Harm J and Church, Colin and Coghlan, Gerry and Condliffe, Robin and Corris, Paul A and Danesino, Cesare and Eyries, Melanie 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 Ross, Robert V. MacKenzie and Moledina, Shahin and Montani, David and Newnham, Michael and Olschewski, Anea and Olschewski, Horst and Peacock, Anew 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 Noordegraaf, Anton Vonk 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, 04/2018, Volume 9, Issue 1, pp. 1416 - 16
a_open_article_in_open_journal | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Pulmonary hypertension | Gene sequencing | Index Medicus
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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
Life Sciences & Biomedicine | Respiratory System | Science & Technology | 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 | Index Medicus | 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 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
Endothelial cell growth-APJ | Hypoxia | Transcriptional regulation | Zebrafish model | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Vertebrates: cardiovascular system | 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 | Index Medicus
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6. Full Text Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension
by Germain, M and Eyries, M and Montani, D and Poirier, O and Girerd, B and Dorfmuller, P and Coulet, F and Nadaud, S and Maugenre, S and Guignabert, C and Carpentier, W and Vonk-Noordegraaf, A and Levy, M and Chaouat, A and Lambert, J.C and Bertrand, M and Dupuy, A.M and Letenneur, L and Lathrop, M and Amouyel, P and de Ravel, T.J.L and Delcroix, M and Austin, E.D and Robbins, I.M and Hemnes, A.R and Loyd, J.E and Berman-Rosenzweig, E and Barst, R.J and Chung, W.K and Simonneau, G and Tregouet, D.A and Humbert, M and Soubrier, F
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 5, pp. 518 - 521
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus | Life Sciences | Human health and pathology
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7. Full Text Soft tissue angiomatosis: another PIK3CA‐related disorder
by Boccara, Olivia and Galmiche‐Rolland, Louise and Dadone‐Montaudié, Bérengère and Ariche‐Maman, Sonia and Coulet, Florence and Eyries, Mélanie and Pannier, Stéphanie and Soupre, Véronique and Molina, Thierry and Pedeutour, Florence and Fraitag, Sylvie
Histopathology, ISSN 0309-0167, 03/2020, Volume 76, Issue 4, pp. 540 - 549
PIK3CA‐related overgrowth syndrome | PTEN hamartoma of soft tissue | PTEN hamartoma tumour syndrome | soft tissue angiomatosis | PIK3CA-related overgrowth syndrome | Pathology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Penis | Medical records | Angiomatosis | Children | Mutation | Gene deletion | Lesions | Neoplasia | Patients | PTEN protein | Genetic screening | Tumors | Index Medicus | Life Sciences | Human health and pathology
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8. Full Text Characterization of GDF2 mutations and levels of BMP9 and BMP10 in pulmonary arterial hypertension
by Hodgson, Joshua and Swietlik, Emilia M and Salmon, Richard M and Hadinnapola, Charaka and Nikolic, Ivana and Wharton, John and Guo, Jingxu and Liley, James and Haimel, Matthias and Bleda, Marta and Southgate, Laura 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 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 Lawrie, Allan and Ross, Robert V. MacKenzie and Moledina, Shahin and Montani, David and Olschewski, Andrea and Olschewski, Horst and Ouwehand, Willem H 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 Suntharalingam, Jay and Toshner, Mark R and Trembath, Richard C and Noordegraaf, Anton Vonk and Wort, Stephen J and Wilkins, Martin R and Yu, Paul B and Li, Wei and Gräf, Stefan and Upton, Paul D and Morrell, Nicholas W
American journal of respiratory and critical care medicine, ISSN 1073-449X, 03/2020, Volume 201, Issue 5, pp. 575 - 585
GDF2 | BMP10 | Pulmonary arterial hypertension | BMP9 | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Growth Differentiation Factor 2 - metabolism | Pulmonary Arterial Hypertension - genetics | Humans | Middle Aged | Growth Differentiation Factor 2 - genetics | Male | Mutation, Missense | Case-Control Studies | DNA Copy Number Variations | Protein Transport | Bone Morphogenetic Proteins - metabolism | Pulmonary Arterial Hypertension - metabolism | Sex Factors | Adult | Female | Heterozygote | Bone Morphogenetic Proteins - genetics | Morphogenesis | Proteins | Mutation | Pulmonary hypertension | Index Medicus | Abridged Index Medicus | Life Sciences | Original | pulmonary arterial hypertension
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9. 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
The European respiratory journal, ISSN 0903-1936, 03/2019, Volume 53, Issue 3
Life Sciences & Biomedicine | Respiratory System | Science & Technology
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10. Full Text Clinical implications of CTNNA1 germline mutations in asymptomatic carriers
by Benusiglio, Patrick R and Benusiglio, Patrick R and Colas, Chrystelle and Colas, Chrystelle and Guillerm, Erell and Guillerm, Erell and Canard, Axelle and Canard, Axelle and Delhomelle, Hélène and Delhomelle, Hélène and Warcoin, Mathilde and Warcoin, Mathilde and Bellanger, Jérôme and Bellanger, Jérôme and Eyries, Mélanie and Eyries, Mélanie and Zizi, Mohamed and Zizi, Mohamed and Netter, Jeanne and Netter, Jeanne and Soubrier, Florent and Soubrier, Florent and Parc, Yann and Parc, Yann and Mourregot, Anne and Mourregot, Anne and Maran Gonzalez, Aurélie and Maran Gonzalez, Aurélie and Cusin, Veronica and Cusin, Veronica and Denis, Jérôme A and Denis, Jérôme A and Coupier, Isabelle and Coupier, Isabelle and Svrcek, Magali and Svrcek, Magali and Coulet, Florence and Coulet, Florence
Gastric Cancer, ISSN 1436-3291, 7/2019, Volume 22, Issue 4, pp. 899 - 903
Medicine & Public Health | CDH1 | Hereditary cancer | Gastroenterology | Abdominal Surgery | CTNNA1 | Signet-ring cell | Oncology | Cancer Research | Diffuse gastric cancer | Surgical Oncology | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Stomach Neoplasms - genetics | Genetic Predisposition to Disease | Carcinoma, Signet Ring Cell - pathology | Prognosis | Follow-Up Studies | alpha Catenin - metabolism | Carcinoma, Signet Ring Cell - surgery | Carcinoma, Signet Ring Cell - metabolism | Humans | Middle Aged | Stomach Neoplasms - metabolism | Male | Stomach Neoplasms - pathology | Gastrectomy | Carcinoma, Signet Ring Cell - genetics | Pedigree | Germ-Line Mutation | Adult | Female | Retrospective Studies | alpha Catenin - genetics | Asymptomatic Diseases - therapy | Stomach Neoplasms - surgery | Gene mutations | Genetic aspects | Endoscopy | Mutation | Stomach cancer | Gastric cancer | E-cadherin | Index Medicus | Life Sciences | Human health and pathology | Genetics | Hépatology and Gastroenterology | Human genetics | Cancer
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