New genetic drivers in hemorrhagic hereditary telangiectasia.
暂无分享,去创建一个
M. Graupera | P. Cerdà | A. Iriarte | Sandra D. Castillo | Cinthia Aguilera | J.L. Rocamora | Sandra D. Castillo | Cinthia Aguilera | Ane M. Larrinaga | Francesc Viñals | A. Riera-Mestre
[1] E. Palmero,et al. Insights on variant analysis in silico tools for pathogenicity prediction , 2022, Frontiers in Genetics.
[2] Liang-di Xie,et al. Bioinformatic Exploration of Hub Genes and Potential Therapeutic Drugs for Endothelial Dysfunction in Hypoxic Pulmonary Hypertension , 2022, Computational and mathematical methods in medicine.
[3] M. Goumans,et al. SMAD6-deficiency in human genetic disorders , 2022, npj Genomic Medicine.
[4] A. Berchuck,et al. Hypoxia-induced inhibin promotes tumor growth and vascular permeability in ovarian cancers , 2022, Communications Biology.
[5] D. Cacchiarelli,et al. Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10-Depleted Mouse Endothelial Cells , 2022, Genes.
[6] J. Fandrey,et al. Altered hypoxia inducible factor regulation in hereditary haemorrhagic telangiectasia , 2022, Scientific Reports.
[7] M. Caulfield,et al. Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation , 2022, Blood advances.
[8] E. Ashley,et al. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome , 2022, Genome medicine.
[9] F. Viñals,et al. Translational medicine in hereditary hemorrhagic telangiectasia. , 2021, European journal of internal medicine.
[10] V. Bautch,et al. SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis , 2021, Angiogenesis.
[11] S. Ehl,et al. Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. , 2021, The Journal of allergy and clinical immunology.
[12] J. Orange,et al. Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex. , 2021, The Journal of clinical investigation.
[13] Anushya Muruganujan,et al. The Gene Ontology resource: enriching a GOld mine , 2020, Nucleic Acids Res..
[14] Anushya Muruganujan,et al. PANTHER version 16: a revised family classification, tree-based classification tool, enhancer regions and extensive API , 2020, Nucleic Acids Res..
[15] Christopher G Chute,et al. The Human Phenotype Ontology in 2021 , 2020, Nucleic Acids Res..
[16] K. Elenitoba-Johnson,et al. Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation , 2020, Frontiers in Genetics.
[17] P. Bayrak-Toydemir,et al. Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia , 2020, Journal of clinical medicine.
[18] K. Heimdal,et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia , 2020, Annals of Internal Medicine.
[19] F. Viñals,et al. SGK1 is a signalling hub that controls protein synthesis and proliferation in endothelial cells , 2020, FEBS Letters.
[20] N. Baena,et al. New genes involved in Angelman syndrome-like: Expanding the genetic spectrum , 2020, bioRxiv.
[21] A. Riera-Mestre,et al. Gastrointestinal Bleeding in Patients with Hereditary Hemorrhagic Telangiectasia: Risk Factors and Endoscopic Findings , 2019, Journal of clinical medicine.
[22] T. Ijuin. Phosphoinositide phosphatases in cancer cell dynamics-Beyond PI3K and PTEN. , 2019, Seminars in cancer biology.
[23] A. Figueras,et al. PI3K (Phosphatidylinositol 3-Kinase) Activation and Endothelial Cell Proliferation in Patients with Hemorrhagic Hereditary Telangiectasia Type 1 , 2019, Cells.
[24] D. Marchuk,et al. Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of ENG or ACVRL1 , 2019, bioRxiv.
[25] Brendan D. O'Fallon,et al. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? , 2019, Genetics in Medicine.
[26] Diana C. Chong,et al. Developmental SMAD6 loss leads to blood vessel hemorrhage and disrupted endothelial cell junctions. , 2018, Developmental biology.
[27] C. Shovlin,et al. European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT) , 2018, Orphanet Journal of Rare Diseases.
[28] Alexandros Kouris,et al. VarSome: the human genomic variant search engine , 2018, bioRxiv.
[29] B. Győrffy,et al. Inhibin Is a Novel Paracrine Factor for Tumor Angiogenesis and Metastasis. , 2018, Cancer research.
[30] X. Matías-Guiu,et al. ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation , 2018, Arteriosclerosis, thrombosis, and vascular biology.
[31] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[32] John F. Robinson,et al. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy , 2017, Human molecular genetics.
[33] K. Miyazono,et al. Regulation of TGF-β Family Signaling by Inhibitory Smads. , 2017, Cold Spring Harbor perspectives in biology.
[34] P. Carmeliet,et al. FOXO1 couples metabolic activity and growth state in the vascular endothelium , 2015, Nature.
[35] E. Chao,et al. Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia , 2015, Human Genome Variation.
[36] 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.
[37] P. Bayrak-Toydemir,et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era , 2015, Front. Genet..
[38] S. Bailly,et al. Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia , 2015, Front. Genet..
[39] Lluis Quintana-Murci,et al. HGCS : an online tool for prioritizing disease-causing gene variants by biological distance Itan , 2017 .
[40] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[41] 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.
[42] G. Semenza,et al. Hypoxic retinal Müller cells promote vascular permeability by HIF-1–dependent up-regulation of angiopoietin-like 4 , 2013, Proceedings of the National Academy of Sciences.
[43] Guillaume Vogt,et al. The human gene connectome as a map of short cuts for morbid allele discovery , 2013, Proceedings of the National Academy of Sciences.
[44] Pengcheng Zhu,et al. Angiopoietin-like 4: a decade of research. , 2012, Bioscience reports.
[45] B. Keavney,et al. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation , 2012, Human mutation.
[46] C. McCulloch,et al. Angiopoietin-Like 4 (ANGPTL4) Gene Polymorphisms and Risk of Brain Arteriovenous Malformations , 2011, Cerebrovascular Diseases.
[47] Y. Okada,et al. Periostin advances atherosclerotic and rheumatic cardiac valve degeneration by inducing angiogenesis and MMP production in humans and rodents. , 2010, The Journal of clinical investigation.
[48] C. Merlo,et al. An epistaxis severity score for hereditary hemorrhagic telangiectasia , 2010, The Laryngoscope.
[49] Jodi B Segal,et al. Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. , 2009, JAMA.
[50] L. David,et al. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. , 2007, Blood.
[51] G. Mufti,et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. , 2005, Gastroenterology.
[52] A. Beggs,et al. Mutations in dynamin 2 cause dominant centronuclear myopathy , 2005, Nature Genetics.
[53] Sandra A. Moore,et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. , 2005, Cancer cell.
[54] Peng Li,et al. Hypoxia-responsive growth factors upregulate periostin and osteopontin expression via distinct signaling pathways in rat pulmonary arterial smooth muscle cells. , 2004, Journal of applied physiology.
[55] A. Rustgi,et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) , 2004, The Lancet.
[56] I. Hampson,et al. CD105 prevents apoptosis in hypoxic endothelial cells , 2003, Journal of Cell Science.
[57] M. Ashburner,et al. Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.
[58] A. Guttmacher,et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). , 2000, American journal of medical genetics.
[59] D. W. Johnson,et al. Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 , 1996, Nature Genetics.
[60] M. Porteous,et al. Hereditary haemorrhagic telangiectasia: a clinical analysis. , 1992, Journal of medical genetics.
[61] A. Waggoner,et al. Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations. , 1991, The American journal of cardiology.
[62] B. Jacobson,et al. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. , 1990, The Journal of investigative dermatology.
[63] A. Riera-Mestre,et al. Medical management of haemorrhagic hereditary telangiectasia in adult patients. , 2018, Medicina clinica.
[64] Susumu Goto,et al. KEGG: Kyoto Encyclopedia of Genes and Genomes , 2000, Nucleic Acids Res..
[65] 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.