Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
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W. Chung | Yufeng Shen | M. Humbert | W. Seeger | C. Penkett | K. Megy | J. Lordan | J. Stephens | S. Gräf | R. Trembath | S. Holden | S. Ghio | N. Morrell | D. Greene | C. Welch | B. Girerd | D. Montani | M. Eyries | F. Soubrier | J. Wharton | M. Wilkins | H. Gall | J. Wild | A. Swift | D. Kiely | H. Olschewski | A. Noordegraaf | C. Rhodes | E. Swietlik | Jennifer M. Martin | D. Pandya | H. Bogaard | R. Condliffe | G. Kovacs | L. Howard | W. Nichols | L. Price | S. Rajaram | R. Machado | S. Wort | L. Southgate | C. Treacy | C. Church | G. Coghlan | S. Moledina | J. Pepke-Żaba | J. Suntharalingam | M. Toshner | A. Lawrie | R. Ross | M. Pauciulo | C. McCabe | N. Zhu | M. Cogliano | Tobias Tilly | K. Lutz | A. Coleman | J. Pepke‐Zaba | Jennifer M Martin | J. Pepke-Zaba | T. Tilly | Marcella Cogliano
[1] Kenneth J. Hillan,et al. Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene , 1996, Nature.
[2] A. Ullrich,et al. SU5416 is a potent and selective inhibitor of the vascular endothelial growth factor receptor (Flk-1/KDR) that inhibits tyrosine kinase catalysis, tumor vascularization, and growth of multiple tumor types. , 1999, Cancer research.
[3] Neil Priestley,et al. SHEFFIELD TEACHING HOSPITALS NHS FOUNDATION TRUST , 2012 .
[4] Sunday S. Oladipupo,et al. Endothelial cell FGF signaling is required for injury response but not for vascular homeostasis , 2014, Proceedings of the National Academy of Sciences.
[5] R. Collins,et al. The future of humans as model organisms , 2018, Science.
[6] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[7] N. Voelkel,et al. Increased gene expression for VEGF and the VEGF receptors KDR/Flk and Flt in lungs exposed to acute or to chronic hypoxia. Modulation of gene expression by nitric oxide. , 1995, The Journal of clinical investigation.
[8] M. Humbert,et al. Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension , 2013, European Respiratory Journal.
[9] R. Trembath,et al. Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension , 2000, Nature Genetics.
[10] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[11] R. Trembath. Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity. , 2001, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.
[12] M. Shibuya,et al. Antiangiogenic effect by SU5416 is partly attributable to inhibition of Flt-1 receptor signaling. , 2002, Molecular cancer therapeutics.
[13] M. Humbert,et al. Résultats tardifs de la commissurotomie mitrale percutanée à 20 ans Création et validation d ’ un score de risque prédisant les résultats fonctionnels à long terme à partir d ’ une série de 912 patients , 2012 .
[14] M. Humbert,et al. Maladie veino-occlusive et hémangiomatose capillaire pulmonaire , 2010 .
[15] R. Eddy,et al. Identification of a new endothelial cell growth factor receptor tyrosine kinase. , 1991, Oncogene.
[16] M. Humbert,et al. Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. , 2017, The Lancet. Respiratory medicine.
[17] W. Seeger,et al. Translational Advances in the Field of Pulmonary Hypertension. From Cancer Biology to New Pulmonary Arterial Hypertension Therapeutics. Targeting Cell Growth and Proliferation Signaling Hubs. , 2017, American journal of respiratory and critical care medicine.
[18] P. Hirth,et al. Inhibition of VEGF receptors causes lung cell apoptosis and emphysema. , 2000, The Journal of clinical investigation.
[19] R. Matsuoka,et al. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension , 2009, Journal of Medical Genetics.
[20] M. Leppert,et al. A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. , 1995, American journal of human genetics.
[21] Sylvia Richardson,et al. A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases , 2017, American journal of human genetics.
[22] W. Chung,et al. Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension , 2012, Circulation. Cardiovascular genetics.
[23] G. Semenza,et al. Expression of angiogenesis‐related molecules in plexiform lesions in severe pulmonary hypertension: evidence for a process of disordered angiogenesis , 2001, The Journal of pathology.
[24] W. Chung,et al. A novel channelopathy in pulmonary arterial hypertension. , 2013, The New England journal of medicine.
[25] Keith W. Muir,et al. Whole-genome sequencing of patients with rare diseases in a national health system , 2020, Nature.
[26] F. Martinez,et al. Pulmonary hypertension in chronic lung disease and hypoxia , 2019, European Respiratory Journal.
[27] W. Chung,et al. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease , 2018, Genome Medicine.
[28] D. Acharya,et al. Pulmonary hypertension with dasatinib and other tyrosine kinase inhibitors , 2019, Pulmonary circulation.
[29] P. Hirth,et al. Inhibition of the VEGF receptor 2 combined with chronic hypoxia causes cell death‐dependent pulmonary endothelial cell proliferation and severe pulmonary hypertension , 2001, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[30] M. Humbert,et al. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension , 2004, Thorax.
[31] L. Parsons,et al. Pulmonary Arterial Hypertension in the Elderly: Baseline Characteristics and Evaluation of Therapeutics. An Examination of the Reveal Registry. , 2009, ATS 2009.
[32] B. Jeon,et al. Temporal changes of angiopoietins and Tie2 expression in rat lungs after monocrotaline-induced pulmonary hypertension. , 2009, Comparative medicine.
[33] M. Humbert,et al. Familial pulmonary arterial hypertension by KDR heterozygous loss of function , 2020, European Respiratory Journal.
[34] B. Groves,et al. Exuberant endothelial cell growth and elements of inflammation are present in plexiform lesions of pulmonary hypertension. , 1994, The American journal of pathology.
[35] M. Shibuya,et al. Antiangiogenic Effect by SU 5416 Is Partly Attributable to Inhibition of Flt-1 Receptor Signaling 1 , 2002 .
[36] Henning Gall,et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension , 2018, Nature Communications.
[37] S. Groshen,et al. Phase II clinical trial of bevacizumab and low-dose metronomic oral cyclophosphamide in recurrent ovarian cancer: a trial of the California, Chicago, and Princess Margaret Hospital phase II consortia. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[38] M. Koss,et al. Pulmonary veno-occlusive disease. , 1996, Current opinion in pulmonary medicine.
[39] Lisa J. Martin,et al. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension , 2019, Genome Medicine.
[40] S. Scherer,et al. Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot , 2018, Genetics in Medicine.