TY - JOUR AU - Galié, N. AU - Hoeper, M. M. AU - Humbert, M. AU - Torbicki, A. AU - Vachiery, J. L. AU - Barbera, J. A. PY - 2009 DA - 2009// TI - Guidelines for the diagnosis and treatment of pulmonary hypertension JO - Eur Heart J VL - 30 UR - https://doi.org/10.1093/eurheartj/ehp297 DO - 10.1093/eurheartj/ehp297 ID - Galié2009 ER - TY - JOUR AU - Simonneau, G. AU - Gatzoulis, M. A. AU - Adatia, I. AU - Celermajer, D. AU - Denton, C. AU - Ghofrani, A. PY - 2013 DA - 2013// TI - Updated clinical classification of pulmonary hypertension JO - J Am Coll Cardiol VL - 62 UR - https://doi.org/10.1016/j.jacc.2013.10.029 DO - 10.1016/j.jacc.2013.10.029 ID - Simonneau2013 ER - TY - JOUR AU - Peacock, A. J. AU - Murphy, N. F. AU - McMurray, J. J. V. AU - Caballero, L. AU - Stewart, S. PY - 2007 DA - 2007// TI - An epidemiological study of pulmonary arterial hypertension JO - Eur Respir J VL - 30 UR - https://doi.org/10.1183/09031936.00092306 DO - 10.1183/09031936.00092306 ID - Peacock2007 ER - TY - JOUR AU - Machado, R. D. AU - Eickelberg, O. AU - Elliott, G. AU - Geraci, M. W. AU - Hanaoka, M. AU - Loyd, J. E. PY - 2009 DA - 2009// TI - Genetics and genomics of pulmonary arterial hypertension JO - J Am Coll Cardiol VL - 54 UR - https://doi.org/10.1016/j.jacc.2009.04.015 DO - 10.1016/j.jacc.2009.04.015 ID - Machado2009 ER - TY - JOUR AU - Sanchez, O. AU - Marié, E. AU - Lerolle, U. AU - Wermert, D. AU - Israël-Biel, D. AU - Meyer, G. PY - 2010 DA - 2010// TI - Pulmonary arterial hypertension in women JO - Rev Mal Respir VL - 27 UR - https://doi.org/10.1016/j.rmr.2009.12.001 DO - 10.1016/j.rmr.2009.12.001 ID - Sanchez2010 ER - TY - JOUR AU - Yang, X. AU - Long, L. AU - Reynolds, P. N. AU - Morrell, N. W. PY - 2010 DA - 2010// TI - Expression of mutant BMPR-II in pulmonary endothelial cells promotes apoptosis and a release of factors that stimulate proliferation of pulmonary arterial smooth muscle cells JO - Pulmonary Circulation VL - 1 UR - https://doi.org/10.4103/2045-8932.78100 DO - 10.4103/2045-8932.78100 ID - Yang2010 ER - TY - JOUR AU - Pfarr, N. AU - Fischer, C. AU - Ehlken, N. AU - Becker-Grünig, T. AU - López-González, V. AU - Gorenflo, M. PY - 2013 DA - 2013// TI - Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension JO - Respir Res VL - 14 UR - https://doi.org/10.1186/1465-9921-14-3 DO - 10.1186/1465-9921-14-3 ID - Pfarr2013 ER - TY - JOUR AU - Pousada, G. AU - Baloira, A. AU - Vilariño, C. AU - Cifrian, J. M. AU - Valverde, D. PY - 2014 DA - 2014// TI - Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0100261 DO - 10.1371/journal.pone.0100261 ID - Pousada2014 ER - TY - JOUR AU - Davies, R. J. AU - Morrell, N. W. PY - 2008 DA - 2008// TI - Molecular mechanisms of Pulmonary Arterial Hypertension: Morphogenetic protein type II receptor JO - Chest VL - 134 UR - https://doi.org/10.1378/chest.08-1341 DO - 10.1378/chest.08-1341 ID - Davies2008 ER - TY - JOUR AU - Girerd, B. AU - Montani, D. AU - Eyries, M. AU - Yaici, A. AU - Sztrymf, B. AU - Coulet, F. PY - 2010 DA - 2010// TI - Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension JO - Respir Res VL - 1 UR - https://doi.org/10.1186/1465-9921-11-73 DO - 10.1186/1465-9921-11-73 ID - Girerd2010 ER - TY - JOUR AU - Pffar, N. AU - Szamalek-Hoegel, J. AU - Fischer, C. AU - Hinderhofer, K. AU - Nagel, C. AU - Eklken, N. PY - 2011 DA - 2011// TI - Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations JO - Respir Res VL - 12 UR - https://doi.org/10.1186/1465-9921-12-99 DO - 10.1186/1465-9921-12-99 ID - Pffar2011 ER - TY - JOUR AU - Harrison, R. E. AU - Flanagan, J. A. AU - Sankelo, M. AU - Abdalla, S. A. AU - Rowell, J. AU - Machado, R. D. PY - 2003 DA - 2003// TI - Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia JO - J Med Genet VL - 40 UR - https://doi.org/10.1136/jmg.40.12.865 DO - 10.1136/jmg.40.12.865 ID - Harrison2003 ER - TY - JOUR AU - López-Novoa, J. M. AU - Bernabeu, C. PY - 2010 DA - 2010// TI - The physiological role of endoglin in the cardiovascular system JO - Am J Physiol Heart Circ Physiol VL - 299 UR - https://doi.org/10.1152/ajpheart.01251.2009 DO - 10.1152/ajpheart.01251.2009 ID - López-Novoa2010 ER - TY - JOUR AU - Sadick, H. AU - Hage, J. AU - Goessler, U. AU - Stern-Straeter, J. AU - Riedel, F. AU - Hoermann, K. PY - 2009 DA - 2009// TI - Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique JO - BMC Med Genet VL - 10 ID - Sadick2009 ER - TY - JOUR AU - Abdalla, S. A. AU - Letarte, M. PY - 2006 DA - 2006// TI - Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease JO - J Med Genet VL - 43 UR - https://doi.org/10.1136/jmg.2005.030833 DO - 10.1136/jmg.2005.030833 ID - Abdalla2006 ER - TY - JOUR AU - Gore, B. AU - Izikki, M. AU - Mercier, O. AU - Dewachter, L. AU - Fadel, E. AU - Humbert, M. PY - 2014 DA - 2014// TI - Key role of the endothelial TGF-β/ALK1/endoglin signaling pathway in humans and rodents pulmonary hypertension JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0100310 DO - 10.1371/journal.pone.0100310 ID - Gore2014 ER - TY - JOUR AU - Montani, D. AU - Günther, S. AU - Dorfmüller, P. AU - Perros, F. AU - Girerd, B. AU - García, G. PY - 2013 DA - 2013// TI - Pulmonary arterial hypertension JO - Orphanet J Rare Dis VL - 8 UR - https://doi.org/10.1186/1750-1172-8-97 DO - 10.1186/1750-1172-8-97 ID - Montani2013 ER - TY - JOUR AU - Simonneau, G. AU - Gatzoulis, M. A. AU - Adatia, I. AU - Celermajer, D. AU - Denton, C. AU - Ghofrani, A. PY - 2013 DA - 2013// TI - Updated clinical classification of pulmonary hypertension JO - J Am Coll Cardiol VL - 62 UR - https://doi.org/10.1016/j.jacc.2013.10.029 DO - 10.1016/j.jacc.2013.10.029 ID - Simonneau2013 ER - TY - JOUR AU - Galiè, N. AU - Hoeper, M. M. AU - Humbert, M. AU - Torbicki, A. AU - Vachiery, J. L. AU - Barbera, J. A. PY - 2009 DA - 2009// TI - Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT) JO - Eur Heart J VL - 30 UR - https://doi.org/10.1093/eurheartj/ehp297 DO - 10.1093/eurheartj/ehp297 ID - Galiè2009 ER - TY - JOUR AU - Gallione, C. J. AU - Klaus, D. J. AU - Yeh, E. Y. AU - Stenzel, T. T. AU - Xue, Y. AU - Anthony, K. B. PY - 1998 DA - 1998// TI - Mutation and expression analysis of the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia reveals null alleles JO - Hum Mutat VL - 11 UR - https://doi.org/3.0.CO;2-B DO - 3.0.CO;2-B ID - Gallione1998 ER - TY - JOUR AU - Adzhubei, I. AU - Jordan, D. M. AU - Sunyaev, S. R. PY - 2013 DA - 2013// TI - Predicting functional effect of human missense mutations using PolyPhen-2 JO - Curr Protoc Hum Genet VL - 7 ID - Adzhubei2013 ER - TY - JOUR AU - Ferrer-Costa, C. AU - Orozco, M. AU - Cruz, X. PY - 2004 DA - 2004// TI - Sequence-based prediction of pathological mutations JO - Proteins VL - 57 UR - https://doi.org/10.1002/prot.20252 DO - 10.1002/prot.20252 ID - Ferrer-Costa2004 ER - TY - JOUR AU - Kumar, P. AU - Henikoff, S. AU - Ng, P. C. PY - 2009 DA - 2009// TI - Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm JO - Nat Protoc VL - 4 UR - https://doi.org/10.1038/nprot.2009.86 DO - 10.1038/nprot.2009.86 ID - Kumar2009 ER - TY - JOUR AU - Schwarz, J. M. AU - Cooper, D. N. AU - Schuelke, M. AU - Seelow, D. PY - 2014 DA - 2014// TI - MutationTaster2: mutation prediction for the deep-sequencing age JO - Nat Methods VL - 11 UR - https://doi.org/10.1038/nmeth.2890 DO - 10.1038/nmeth.2890 ID - Schwarz2014 ER - TY - JOUR AU - Pousada, G. AU - Baloira, A. AU - Valverde, D. PY - 2015 DA - 2015// TI - Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-014-0216-3 DO - 10.1186/s13023-014-0216-3 ID - Pousada2015 ER - TY - JOUR AU - Förg, T. AU - Hafner, M. AU - Lux, A. PY - 2014 DA - 2014// TI - Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0102998 DO - 10.1371/journal.pone.0102998 ID - Förg2014 ER - TY - JOUR AU - Lesca, G. AU - Plauchu, H. AU - Coulet, F. AU - Lefebvre, S. AU - Plessis, G. AU - Odent, S. PY - 2004 DA - 2004// TI - Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France JO - Hum Mutat VL - 23 UR - https://doi.org/10.1002/humu.20017 DO - 10.1002/humu.20017 ID - Lesca2004 ER - TY - JOUR AU - Abdalla, S. A. AU - Cymerman, U. AU - Rushlow, D. AU - Chen, N. AU - Stoeber, G. P. AU - Lemire, E. G. PY - 2005 DA - 2005// TI - Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia JO - Hum Mutat VL - 25 UR - https://doi.org/10.1002/humu.9312 DO - 10.1002/humu.9312 ID - Abdalla2005 ER - TY - JOUR AU - Harrison, R. E. AU - Berger, R. AU - Haworth, S. G. AU - Tulloh, R. AU - Mache, C. J. AU - Morrell, N. W. PY - 2005 DA - 2005// TI - Transforming growth factor-receptor mutations and pulmonary arterial hypertension in childhood JO - Circulation VL - 111 UR - https://doi.org/10.1161/01.CIR.0000153798.78540.87 DO - 10.1161/01.CIR.0000153798.78540.87 ID - Harrison2005 ER - TY - JOUR AU - McDonald, J. AU - Wooderchak-Donahue, W. AU - VanSant-Webb, C. AU - Whitehead, K. AU - Stevenson, D. A. AU - Bayrak-Toydemir, P. PY - 2015 DA - 2015// TI - Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era JO - Front Genet VL - 6 UR - https://doi.org/10.3389/fgene.2015.00001 DO - 10.3389/fgene.2015.00001 ID - McDonald2015 ER - TY - JOUR AU - Wipff, J. AU - Kahan, A. AU - Hachulla, E. AU - Sibilia, J. AU - Cabane, J. AU - Meyer, O. PY - 2007 DA - 2007// TI - Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension JO - Rheumatology VL - 46 UR - https://doi.org/10.1093/rheumatology/kel378 DO - 10.1093/rheumatology/kel378 ID - Wipff2007 ER - TY - JOUR AU - Machado, R. D. AU - Southgate, L. AU - Eichstaedt, C. A. AU - Aldred, M. A. AU - Austin, E. D. AU - Best, D. H. PY - 2015 DA - 2015// TI - Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects JO - Hum Mutat VL - 36 UR - https://doi.org/10.1002/humu.22904 DO - 10.1002/humu.22904 ID - Machado2015 ER - TY - JOUR AU - Best, D. H. AU - Austin, E. D. AU - Chung, W. K. AU - Elliott, C. G. PY - 2014 DA - 2014// TI - Genetics of pulmonary hypertension JO - Curr Opin Cardiol VL - 29 UR - https://doi.org/10.1097/HCO.0000000000000105 DO - 10.1097/HCO.0000000000000105 ID - Best2014 ER - TY - JOUR AU - Aparisi, M. J. AU - García-García, G. AU - Aller, E. AU - Sequedo, M. D. AU - Martínez-Fernández de la Cámara, C. AU - Rodrigo, R. PY - 2013 DA - 2013// TI - Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0057506 DO - 10.1371/journal.pone.0057506 ID - Aparisi2013 ER - TY - JOUR AU - Schulte, C. AU - Geisthoff, U. AU - Lux, A. AU - Kupka, S. AU - Zenner, H. P. AU - Blin, N. PY - 2005 DA - 2005// TI - High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients JO - Hum Mutat VL - 25 UR - https://doi.org/10.1002/humu.9345 DO - 10.1002/humu.9345 ID - Schulte2005 ER - TY - JOUR AU - Ali, B. R. AU - Ben-Rebeh, I. AU - John, A. AU - Akawi, N. A. AU - Milhem, R. M. AU - Al-Shehhi, N. A. PY - 2011 DA - 2011// TI - Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary Haemorrhagic Telangiectasia JO - PLoS One VL - 6 UR - https://doi.org/10.1371/journal.pone.0026206 DO - 10.1371/journal.pone.0026206 ID - Ali2011 ER - TY - JOUR AU - Czech, A. AU - Fedyunin, I. AU - Zhang, G. AU - Ignatova, Z. PY - 2010 DA - 2010// TI - Silent mutations in sight: co-variations in tRNA abundance as a key to unravel consequences of silent mutations JO - Mol BioSyst VL - 6 UR - https://doi.org/10.1039/c004796c DO - 10.1039/c004796c ID - Czech2010 ER - TY - JOUR AU - Fernández, L. A. AU - Sanz-Rodriguez, F. AU - Blanco, F. J. AU - Bernabéu, C. AU - Botella, L. M. PY - 2006 DA - 2006// TI - Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway JO - Clin Med Res VL - 4 UR - https://doi.org/10.3121/cmr.4.1.66 DO - 10.3121/cmr.4.1.66 ID - Fernández2006 ER - TY - JOUR AU - Upton, P. D. AU - Morrell, N. W. PY - 2013 DA - 2013// TI - The transforming growth factor-β-bone morphogenetic protein type signalling pathway in pulmonary vascular homeostasis and disease JO - Exp Physiol VL - 98 UR - https://doi.org/10.1113/expphysiol.2012.069104 DO - 10.1113/expphysiol.2012.069104 ID - Upton2013 ER - TY - JOUR AU - Chaouat, A. AU - Coulet, F. AU - Favre, C. AU - Simonneau, G. AU - Weitzenblum, E. AU - Soubrier, F. PY - 2004 DA - 2004// TI - Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension JO - Thorax VL - 59 UR - https://doi.org/10.1136/thx.2003.11890 DO - 10.1136/thx.2003.11890 ID - Chaouat2004 ER - TY - JOUR AU - John, A. AU - Kizhakkedath, P. AU - Al-Gazali, L. AU - Ali, B. R. PY - 2015 DA - 2015// TI - Defective celular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension JO - Gene VL - 561 UR - https://doi.org/10.1016/j.gene.2015.02.038 DO - 10.1016/j.gene.2015.02.038 ID - John2015 ER - TY - JOUR AU - Chaney, J. L. AU - Clark, P. L. PY - 2015 DA - 2015// TI - Roles for synonymous codon usage in protein biogenesis JO - Annu Rev Biophys VL - 44 UR - https://doi.org/10.1146/annurev-biophys-060414-034333 DO - 10.1146/annurev-biophys-060414-034333 ID - Chaney2015 ER - TY - JOUR AU - Mallet, C. AU - Lamribet, K. AU - Giraud, S. AU - Dupuis-Girod, S. AU - Feige, J. J. AU - Bailly, S. PY - 2015 DA - 2015// TI - Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function JO - Hum Mol Genet VL - 144 ID - Mallet2015 ER - TY - JOUR AU - Blanco, F. J. AU - Grande, M. T. AU - Langa, C. AU - Oujo, B. AU - Velasco, S. AU - Rodríguez-Barbero, A. PY - 2008 DA - 2008// TI - S-endoglin expression is induced in senescent endothelial cells and contributes to vascular pathology JO - Circ Res VL - 103 UR - https://doi.org/10.1161/CIRCRESAHA.108.176552 DO - 10.1161/CIRCRESAHA.108.176552 ID - Blanco2008 ER - TY - JOUR AU - Liu, Z. AU - Lebrin, F. AU - Maring, J. A. AU - Driesche, S. AU - Brink, S. AU - Dinther, M. PY - 2014 DA - 2014// TI - ENDOGLIN is dispensable for vasculogenesis, but required for vascular endothelial growth factor-induced angiogenesis JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0086273 DO - 10.1371/journal.pone.0086273 ID - Liu2014 ER - TY - JOUR AU - Liu, D. AU - Wu, W. H. AU - Mao, Y. M. AU - Yuan, P. AU - Zhang, R. AU - Ju, F. L. PY - 2012 DA - 2012// TI - BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension JO - Circ Cardiovasc Genet VL - 5 UR - https://doi.org/10.1161/CIRCGENETICS.111.962209 DO - 10.1161/CIRCGENETICS.111.962209 ID - Liu2012 ER - TY - JOUR AU - Pousada, G. AU - Baloira, A. AU - Valverde, D. PY - 2014 DA - 2014// TI - Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia JO - Med Clin VL - 144 UR - https://doi.org/10.1016/j.medcli.2014.09.024 DO - 10.1016/j.medcli.2014.09.024 ID - Pousada2014 ER - TY - JOUR AU - Daniels, A. B. AU - Sandberg, M. A. AU - Chen, J. AU - Weigel-DiFranco, C. AU - Fielding Hejtmancic, J. AU - Berson, E. L. PY - 2012 DA - 2012// TI - Genotype-phenotype correlations in Bardet-Biedl syndrome JO - Arch Ophtthalmol VL - 130 ID - Daniels2012 ER - TY - JOUR AU - Rodríguez-Viales, R. AU - Eichstaedt, C. A. AU - Ehlken, N. AU - Fischer, C. AU - Lichtblau, M. AU - Grünig, E. PY - 2015 DA - 2015// TI - Mutation in BMPR2 promoter: a ‘second hit’ for manifestation of pulmonary arterial hypertension? JO - PLoS One VL - 10 UR - https://doi.org/10.1371/journal.pone.0133042 DO - 10.1371/journal.pone.0133042 ID - Rodríguez-Viales2015 ER - TY - JOUR AU - Forsythe, E. AU - Beales, P. L. PY - 2013 DA - 2013// TI - Bardet-Biedl syndrome JO - Eur J Hum Genet VL - 21 UR - https://doi.org/10.1038/ejhg.2012.115 DO - 10.1038/ejhg.2012.115 ID - Forsythe2013 ER - TY - JOUR AU - Castro-Sánchez, S. AU - Álvarez-Satta, M. AU - Cortón, M. AU - Guillén, E. AU - Ayuso, C. AU - Valverde, D. PY - 2015 DA - 2015// TI - Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families JO - J Med Genet VL - 52 UR - https://doi.org/10.1136/jmedgenet-2015-103099 DO - 10.1136/jmedgenet-2015-103099 ID - Castro-Sánchez2015 ER -