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Enid Neptune

Researcher at Johns Hopkins University

Publications -  73
Citations -  6249

Enid Neptune is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: COPD & Marfan syndrome. The author has an hindex of 22, co-authored 66 publications receiving 5482 citations. Previous affiliations of Enid Neptune include Johns Hopkins University School of Medicine & University of Minnesota.

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

TL;DR: These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.
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Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome

TL;DR: It is shown that mice deficient in fibrillin-1 have marked dysregulation of transforming growth factor-β (TGF-β) activation and signaling, resulting in apoptosis in the developing lung, and that perturbation of this function can contribute to the pathogenesis of disease.
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Role of the TGF-β/Alk5 Signaling Pathway in Monocrotaline-induced Pulmonary Hypertension

TL;DR: Evidence is provided that increased TGF-beta signaling participates in the pathogenesis of experimental severe PH, with a small but significant improvement in hemodynamic parameters and medial remodeling.