Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Mark D. Levin"'
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:
Russell H. Knutsen, Leah M. Gober, Elise K. Kronquist, Maninder Kaur, Danielle R. Donahue, Danielle Springer, Zu Xi Yu, Marcus Y. Chen, Yi-Ping Fu, Feri Choobdar, My-Le Nguyen, Sharon Osgood, Joy L. Freeman, Neelam Raja, Mark D. Levin, Beth A. Kozel
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
BackgroundWilliams Beuren syndrome (WBS) is a recurrent microdeletion disorder that removes one copy of elastin (ELN), resulting in large artery vasculopathy. Early stenosis of the pulmonary vascular tree is common, but few data are available on long
Externí odkaz:
https://doaj.org/article/c78ace6652984ae09c04d4d5b7428a7c
Autor:
Elise K. Kronquist, Maninder Kaur, Leah M. Gober, Russell H. Knutsen, Yi-Ping Fu, Zu-Xi Yu, Danielle R. Donahue, Marcus Y. Chen, Sharon Osgood, Neelam Raja, Mark D. Levin, Amisha Barochia, Beth A. Kozel
Publikováno v:
Diagnostics, Vol 12, Iss 6, p 1438 (2022)
Williams–Beuren syndrome (WS) results from the deletion of 25–27 coding genes, including elastin (ELN), on human chromosome 7q11.23. Elastin provides recoil to tissues; emphysema and chronic obstructive pulmonary disease have been linked to its d
Externí odkaz:
https://doaj.org/article/22bc546de50a497e9af62410db397f9c
Publikováno v:
ACS Central Science, Vol 2, Iss 5, Pp 293-301 (2016)
Externí odkaz:
https://doaj.org/article/25563e595ace4807a44a66cbb5e448cc
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
Publikováno v:
Journal of the American Chemical Society. 144:19258-19264
Given the ubiquity of heterocycles in biologically active molecules, transformations with the capacity to modify such molecular skeletons with modularity remain highly desirable. Ring expansions that enable interconversion of privileged heterocyclic
Autor:
Jisoo Woo, Alec H. Christian, Samantha A. Burgess, Yuan Jiang, Umar Faruk Mansoor, Mark D. Levin
Publikováno v:
Science
Discovery chemists routinely identify purpose-tailored molecules through an iterative structural optimization approach, but the preparation of each successive candidate in a compound series can rarely be conducted in a manner matching their thought p
Autor:
Kathleen J. Berger, Julia L. Driscoll, Mingbin Yuan, Balu D. Dherange, Osvaldo Gutierrez, Mark D. Levin
Publikováno v:
J Am Chem Soc
We report here a reaction that selectively deaminates primary amines and anilines under mild conditions and with remarkable functional group tolerance including a range of pharmaceutical compounds, amino acids, amino sugars, and natural products. An
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56465cc4c9e5eaba52ce411f0124b403
https://europepmc.org/articles/PMC10249333/
https://europepmc.org/articles/PMC10249333/
Autor:
Balu D. Dherange, Mingbin Yuan, Christopher B. Kelly, Christopher A. Reiher, Cristina Grosanu, Kathleen J. Berger, Osvaldo Gutierrez, Mark D. Levin
Publikováno v:
Journal of the American Chemical Society.
Selective functional group interconversions in complex molecular settings underpin many of the challenges facing modern organic synthesis. Currently, a privileged subset of functional groups dominates this landscape, while others, despite their abund
Autor:
Fady Hannah-Shmouni, Beth A. Kozel, Niamh X. Cawley, An Dang Do, Audrey Noguchi, Christopher A. Wassif, Danielle A. Springer, Julia F Grafstein, Andrew Smith, Judith Miller, Audrey Thurm, Andreas Schulze, Dylan Hammond, Forbes D. Porter, Simona Bianconi, Mark D. Levin, Christopher F. Spurney, John Perreault, Zu-Xi Yu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder. This study was designed to inves