The ACVRL1 c.314—35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations
暂无分享,去创建一个
C. McCulloch | L. Pawlikowska | M. Lawton | M. Faughnan | Helen Kim | J. Nelson | D. Guo | William L. Young | W. Young | Diana E. Guo
[1] M. Maze,et al. Endoglin Deficiency Impairs Stroke Recovery , 2014, Stroke.
[2] Marie M. Lee,et al. Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans , 2014, Proceedings of the National Academy of Sciences.
[3] D. Schadendorf,et al. TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism , 2013, Proceedings of the National Academy of Sciences.
[4] Brendan D. O'Fallon,et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. , 2013, American journal of human genetics.
[5] P. Schwartz,et al. Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome , 2013, Circulation. Cardiovascular genetics.
[6] C. McCulloch,et al. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions. , 2013, The Journal of rare disorders.
[7] Juan Arbelaez,et al. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia , 2012, Nature Communications.
[8] R. Pyeritz,et al. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis , 2011, Genetics in Medicine.
[9] Fred A. Wright,et al. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 , 2011, Nature Genetics.
[10] Silke Szymczak,et al. Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility , 2010, PloS one.
[11] A. Guttmacher,et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia , 2009, Journal of Medical Genetics.
[12] C. Eng,et al. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia , 2008, American journal of medical genetics. Part A.
[13] A. Ziegler,et al. Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. , 2006, Journal of neurosurgery.
[14] P. Bayrak-Toydemir,et al. Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations * , 2006, American journal of medical genetics. Part A.
[15] C. McCulloch,et al. Polymorphisms in Transforming Growth Factor-β-Related Genes ALK1 and ENG Are Associated With Sporadic Brain Arteriovenous Malformations , 2005, Stroke.
[16] D. Lindhout,et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia , 2005, Journal of Medical Genetics.
[17] A. Rustgi,et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) , 2004, The Lancet.
[18] D. W. Johnson,et al. Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 , 1996, Nature Genetics.
[19] 西田 武生,et al. Brain Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia : Gene-Phenotype Correlations , 2013 .
[20] D. W. Johnson,et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 , 1994, Nature Genetics.