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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS. Blackburn PR, et al. Among authors: mcdonnell nb. Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29. Am J Hum Genet. 2018. PMID: 29606302 Free PMC article.
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
Morissette R, Schoenhoff F, Xu Z, Shilane DA, Griswold BF, Chen W, Yang J, Zhu J, Fert-Bober J, Sloper L, Lehman J, Commins N, Van Eyk JE, McDonnell NB. Morissette R, et al. Among authors: mcdonnell nb. Circ Cardiovasc Genet. 2014 Feb;7(1):80-8. doi: 10.1161/CIRCGENETICS.113.000280. Epub 2014 Jan 6. Circ Cardiovasc Genet. 2014. PMID: 24399159
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.
Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, Van Eyk J, McDonnell NB. Ganesh SK, et al. Among authors: mcdonnell nb. FASEB J. 2014 Aug;28(8):3313-24. doi: 10.1096/fj.14-251207. Epub 2014 Apr 14. FASEB J. 2014. PMID: 24732132 Free PMC article.
37 results