Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Beth A Kozel"'
Autor:
Ki-Sun Park, Beenish Rahat, Hyung Chul Lee, Zu-Xi Yu, Jacob Noeker, Apratim Mitra, Connor M Kean, Russell H Knutsen, Danielle Springer, Claudia M Gebert, Beth A Kozel, Karl Pfeifer
Publikováno v:
eLife, Vol 10 (2021)
Maternal loss of imprinting (LOI) at the H19/IGF2 locus results in biallelic IGF2 and reduced H19 expression and is associated with Beckwith–-Wiedemann syndrome (BWS). We use mouse models for LOI to understand the relative importance of Igf2 and H1
Externí odkaz:
https://doaj.org/article/9585b4d7825b4eb19926c26cb2be1f3c
Autor:
Sara B. Stephens, Tyler Novy, Gabrielle N. Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A. Kozel, Justin Weigand, Shaine A. Morris
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 8 (2024)
Background We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). Methods and Results This retrospective cohort study included patients
Externí odkaz:
https://doaj.org/article/a6f4c9205229419ba3cbb1d911547173
Autor:
Delong Liu, Charles J. Billington, Neelam Raja, Zoe C. Wong, Mark D. Levin, Wulfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C. R. Parrish, Russell H. Knutsen, Sharon Osgood, Joy A. Freeman, Clifton L. Dalgard, Giuseppe Merla, Barbara R. Pober, Carolyn B. Mervis, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 3 (2024)
Background Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams–Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams–Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreci
Externí odkaz:
https://doaj.org/article/e2bf0005fc8048d4b610451362a2ab88
Autor:
Danielle D. Dang, Vikram Chandrashekhar, Vibhu Chandrashekhar, Nagela Ghabdanzanluqui, Russell H. Knutsen, Matthew A. Nazari, Likitha Nimmagadda, Danielle R. Donahue, Dorian B. McGavern, Beth A. Kozel, John D. Heiss, Karel Pacak, Zhengping Zhuang, Jared S. Rosenblum
Publikováno v:
STAR Protocols, Vol 4, Iss 3, Pp 102367- (2023)
Summary: Mapping cranial vasculature and adjacent neurovascular interfaces in their entirety will enhance our understanding of central nervous system function in any physiologic state. We present a workflow to visualize in situ murine vasculature and
Externí odkaz:
https://doaj.org/article/ae9471c45db847b68da91dbec8d63a83
Autor:
Yonit A. Addissie, Paul Kruszka, Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel, Robert J. Lipinski, Kristen M. C. Malecki, Maximilian Muenke
Publikováno v:
Environmental Health, Vol 19, Iss 1, Pp 1-13 (2020)
Abstract Background Pesticide exposure during susceptible windows and at certain doses are linked to numerous birth defects. Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the
Externí odkaz:
https://doaj.org/article/b860ee5ed34445d3aacaebfce021f2d1
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
There is ample evidence supporting a role for angiotensin II type 2 receptor (AT2R) in counterbalancing the effects of angiotensin II (ang II) through the angiotensin II type 1 receptor by promoting vasodilation and having anti-inflammatory effects.
Externí odkaz:
https://doaj.org/article/283e70f0205542cf9439b02d48b8b6a9
Autor:
Jared S. Rosenblum, Herui Wang, Pauline M. Dmitriev, Anthony J. Cappadona, Panagiotis Mastorakos, Chen Xu, Abhishek Jha, Nancy Edwards, Danielle R. Donahue, Jeeva Munasinghe, Matthew A. Nazari, Russell H. Knutsen, Bruce R. Rosenblum, James G. Smirniotopoulos, Alberto Pappo, Robert F. Spetzler, Alexander Vortmeyer, Mark R. Gilbert, Dorian B. McGavern, Emily Chew, Beth A. Kozel, John D. Heiss, Zhengping Zhuang, Karel Pacak
Publikováno v:
JCI Insight, Vol 6, Iss 5 (2021)
Mutations in EPAS1, encoding hypoxia-inducible factor-2α (HIF-2α), were previously identified in a syndrome of multiple paragangliomas, somatostatinoma, and polycythemia. HIF-2α, when dimerized with HIF-1β, acts as an angiogenic transcription fac
Externí odkaz:
https://doaj.org/article/13982532d1b84ab7917970578fa07532
Autor:
Mark D. Levin, Brianna M. Cathey, Kevin Smith, Sharon Osgood, Neelam Raja, Yi-Ping Fu, Beth A. Kozel
Publikováno v:
JACC: Clinical Electrophysiology. 9:359-370
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73dae3d559bd74e421ee4a68558235a7
https://doi.org/10.1016/j.jacep.2022.10.010
https://doi.org/10.1016/j.jacep.2022.10.010
Autor:
Sara S. Procknow, Beth A. Kozel
Publikováno v:
American journal of physiology. Cell physiology. 323(3)
Elastin provides recoil to tissues that stretch such as the lung, blood vessels, and skin. It is deposited in a brief window starting in the prenatal period and extending to adolescence in vertebrates, and then slowly turns over. Elastin insufficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a80602ab56978287a4e7ad3990608882
https://pubmed.ncbi.nlm.nih.gov/35816641
https://pubmed.ncbi.nlm.nih.gov/35816641
Autor:
Benjamin D. Brink, Richard Feinn, Beth A. Kozel, Charles J. Billington, Delong Liu, Eric Yu, Sampat Sindhar, Julie He, Charles Rouse, Rachel Lampert, Barbara R. Pober, Robert W. Elder
Publikováno v:
Pediatric Cardiology. 43:1559-1567
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c83abbc2a53e7e2899e356b22b859026
https://doi.org/10.1007/s00246-022-02883-3
https://doi.org/10.1007/s00246-022-02883-3