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Results: 8
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Emmanuelle Souzeau, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne EM Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline CW Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Sep 05, 2018
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In...
ADAMTS Proteins Asian People Cornea Corneal Diseases Corneal Dystrophies Hereditary Decorin Ehlers-Danlos Syndrome Eye Diseases Hereditary Fibrillin-1 Gene Expression Genome Human Genome-Wide Association Study Glaucoma Open-Angle Humans Keratoconus Loeys-Dietz Syndrome Lumican Marfan Syndrome Mendelian Randomization Analysis Myopia Polymorphism Single Nucleotide Proteoglycans Quantitative Trait Loci Quantitative Trait Heritable Transforming Growth Factor beta2 White People
Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.
Jeffrey Aalders, Laurens Léger, Louis Van der Meeren, Natasja Van den Vreken, Andre G Skirtach, Sanjay Sinha, Julie De Backer, Jolanda van Hengel
Oct 14, 2020
Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Myocardial dysfunction has been demonstrated in MFS patients and mouse models, but little is known...
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death.
Alessandra Granata, Felipe Serrano, William George Bernard, Madeline McNamara, Lucinda Low, Priya Sastry, Sanjay Sinha
Oct 31, 2016
Aortic Aneurysm Apoptosis Fibrillin-1 Gene Expression Regulation Humans Induced Pluripotent Stem Cells Kruppel-Like Factor 4 Kruppel-Like Transcription Factors Marfan Syndrome Models Biological Muscle Smooth Vascular Signal Transduction Transforming Growth Factor beta p38 Mitogen-Activated Protein Kinases
The Importance of Genetic Factors in the Management of Spontaneous Pneumothorax
The Importance of Genetic Factors in the Management of Spontaneous Pneumothorax
Glycoproteomic Analysis of the Aortic Extracellular Matrix in Marfan Patients.
Xiaoke Yin 殷晓科, Shaynah Wanga, Adam L Fellows, Javier Barallobre-Barreiro, Ruifang Lu, Hongorzul Davaapil, Romy Franken, Marika Fava, Ferheen Baig, Philipp Skroblin, Qiuru Xing, David R Koolbergen, Maarten Groenink, Aeilko H Zwinderman, Ron Balm, Carlie JM de Vries, Barbara JM Mulder, Rosa Viner, Marjan Jahangiri, Dieter P Reinhardt, Sanjay Sinha, Vivian de Waard, Manuel Mayr
Jul 25, 2019
OBJECTIVE: Marfan syndrome (MFS) is caused by mutations in FBN1 (fibrillin-1), an extracellular matrix (ECM) component, which is modified post-translationally by glycosylation. This study aimed to characterize the glycoproteome...