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Developmental vascular malformations in EPAS1 gain-of-function syndrome.
Rosenblum JS, Wang H, Dmitriev PM, Cappadona AJ, Mastorakos P, Xu C, Jha A, Edwards N, Donahue DR, Munasinghe J, Nazari MA, Knutsen RH, Rosenblum BR, Smirniotopoulos JG, Pappo A, Spetzler RF, Vortmeyer A, Gilbert MR, McGavern DB, Chew E, Kozel BA, Heiss JD, Zhuang Z, Pacak K. Rosenblum JS, et al. Among authors: kozel ba. JCI Insight. 2021 Mar 8;6(5):e144368. doi: 10.1172/jci.insight.144368. JCI Insight. 2021. PMID: 33497361 Free PMC article.
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. Sugitani H, et al. Among authors: kozel ba. J Biol Chem. 2012 Jun 22;287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9. J Biol Chem. 2012. PMID: 22573328 Free PMC article.
Skin findings in Williams syndrome.
Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Kozel BA, et al. Am J Med Genet A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11. Am J Med Genet A. 2014. PMID: 24920525 Free PMC article.
Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness.
Knutsen RH, Beeman SC, Broekelmann TJ, Liu D, Tsang KM, Kovacs A, Ye L, Danback JR, Watson A, Wardlaw A, Wagenseil JE, Garbow JR, Shoykhet M, Kozel BA. Knutsen RH, et al. Among authors: kozel ba. Am J Physiol Heart Circ Physiol. 2018 Jul 1;315(1):H18-H32. doi: 10.1152/ajpheart.00683.2017. Epub 2018 Mar 2. Am J Physiol Heart Circ Physiol. 2018. PMID: 29498532 Free PMC article.
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
Rosenblum JS, Cappadona AJ, Argersinger DP, Pang Y, Wang H, Nazari MA, Munasinghe JP, Donahue DR, Jha A, Smirniotopoulos JG, Miettinen MM, Knutsen RH, Kozel BA, Zhuang Z, Pacak K, Heiss JD. Rosenblum JS, et al. Among authors: kozel ba. Neurol Genet. 2020 Apr 1;6(3):e414. doi: 10.1212/NXG.0000000000000414. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32337341 Free PMC article.
Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.
Dmitrieva NI, Walts AD, Nguyen DP, Grubb A, Zhang X, Wang X, Ping X, Jin H, Yu Z, Yu ZX, Yang D, Schwartzbeck R, Dalgard CL, Kozel BA, Levin MD, Knutsen RH, Liu D, Milner JD, López DB, O'Connell MP, Lee CR, Myles IA, Hsu AP, Freeman AF, Holland SM, Chen G, Boehm M. Dmitrieva NI, et al. Among authors: kozel ba. J Clin Invest. 2020 Aug 3;130(8):4167-4181. doi: 10.1172/JCI135490. J Clin Invest. 2020. PMID: 32369445 Free PMC article. Clinical Trial.
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