Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Caleb P, Bupp"'
Autor:
Claudia V. Aniol, Jeremy W. Prokop, Surender Rajasekaran, Spencer Pageau, Sydney K. Elizer, Elizabeth A. VanSickle, Caleb P. Bupp
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-4 (2023)
Abstract Background Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart
Externí odkaz:
https://doaj.org/article/5a8e17ed77eb4760af579bad5bea764b
Autor:
Marian L. Henderson, Jacob K. Zieba, Xiaopeng Li, Daniel B. Campbell, Michael R. Williams, Daniel L. Vogt, Caleb P. Bupp, Yvonne M. Edgerly, Surender Rajasekaran, Nicholas L. Hartog, Jeremy W. Prokop, Jena M. Krueger
Publikováno v:
BioTech, Vol 13, Iss 1, p 1 (2024)
Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retina
Externí odkaz:
https://doaj.org/article/60765cdb5a054fb2909e7b2b14f2b561
Autor:
Akansha S. Das, Emily C. Sherry, Robert M. Vaughan, Marian L. Henderson, Jacob Zieba, Katie L. Uhl, Olivia Koehn, Caleb P. Bupp, Surender Rajasekaran, Xiaopeng Li, Surya B. Chhetri, Sahar Nissim, Carol L. Williams, Jeremy W. Prokop
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The small GTPase family is well-studied in cancer and cellular physiology. With 162 annotated human genes, the family has a broad expression throughout cells of the body. Members of the family have multiple exons that require splicing. Yet, the role
Externí odkaz:
https://doaj.org/article/c07fd91f53d941d8a816a9e1ed070660
Autor:
Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop, Charles E. Schwartz, Surender Rajasekaran, André S. Bachmann, Magalie Barth, Clément Prouteau, Yotam Almagor, Lina Berkun, Gheona Alterescu, Caleb P. Bupp
Publikováno v:
Medical Sciences, Vol 11, Iss 2, p 29 (2023)
Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discove
Externí odkaz:
https://doaj.org/article/6c50033ad1b24e8d863ee9b47432b374
Autor:
Taylor W. Cook, Amy M. Wilstermann, Jackson T. Mitchell, Nicholas E. Arnold, Surender Rajasekaran, Caleb P. Bupp, Jeremy W. Prokop
Publikováno v:
Biomolecules, Vol 13, Iss 2, p 257 (2023)
Insulin is amongst the human genome’s most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin (INS) genetics that influence transcription, t
Externí odkaz:
https://doaj.org/article/f42c82afc17242ba950f8f97e43dece9
Autor:
Caleb P. Bupp, Elizabeth G. Ames, Madison K. Arenchild, Sara Caylor, David P. Dimmock, Joseph D. Fakhoury, Padmani Karna, April Lehman, Cristian I. Meghea, Vinod Misra, Danielle A. Nolan, Jessica O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer-Monaghan
Publikováno v:
Children, Vol 10, Iss 1, p 106 (2023)
The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan’s Project Baby
Externí odkaz:
https://doaj.org/article/22700c89a5f447c3b114f0d7fe66e8a4
Autor:
Jacob Bauss, Michele Morris, Rama Shankar, Rosemary Olivero, Leah N. Buck, Cynthia L. Stenger, David Hinds, Joshua Mills, Alexandra Eby, Joseph W. Zagorski, Caitlin Smith, Sara Cline, Nicholas L. Hartog, Bin Chen, John Huss, Joseph A. Carcillo, Surender Rajasekaran, Caleb P. Bupp, Jeremy W. Prokop
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
In the age of genomics, public understanding of complex scientific knowledge is critical. To combat reductionistic views, it is necessary to generate and organize educational material and data that keep pace with advances in genomics. The view that C
Externí odkaz:
https://doaj.org/article/42832c61612446059f5abf813b814e18
Autor:
Jeremy W. Prokop, Nicholas L. Hartog, Dave Chesla, William Faber, Chanise P. Love, Rachid Karam, Nelly Abualkheir, Benjamin Feldmann, Li Teng, Tamara McBride, Mara L. Leimanis, B. Keith English, Amanda Holsworth, Austin Frisch, Jacob Bauss, Nathisha Kalpage, Aram Derbedrossian, Ryan M. Pinti, Nicole Hale, Joshua Mills, Alexandra Eby, Elizabeth A. VanSickle, Spencer C. Pageau, Rama Shankar, Bin Chen, Joseph A. Carcillo, Dominic Sanfilippo, Rosemary Olivero, Caleb P. Bupp, Surender Rajasekaran
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
The immune response to COVID-19 infection is variable. How COVID-19 influences clinical outcomes in hospitalized patients needs to be understood through readily obtainable biological materials, such as blood. We hypothesized that a high-density analy
Externí odkaz:
https://doaj.org/article/e20f32557f9a42348621c304d05e58cd
Autor:
Surender Rajasekaran, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Joseph Junewick, Emily Gleason, Elizabeth A VanSickle, Yvonne Edgerly, Bryan M Wittmann, Jeremy W Prokop, André S Bachmann
Publikováno v:
eLife, Vol 10 (2021)
Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities. We described the therapeutic course for a rare syndrom
Externí odkaz:
https://doaj.org/article/1498a58c840f461ba483dbb1a62257c5
Autor:
Linda S. Franck, Andrea Scheurer-Monaghan, Caleb P. Bupp, Joseph D. Fakhoury, Thomas J. Hoffmann, Manasi Deshpandey, Madison Arenchild, David P. Dimmock
Publikováno v:
Children, Vol 9, Iss 3, p 357 (2022)
We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized neo
Externí odkaz:
https://doaj.org/article/0c80fdc9cf7a4beb99ee12b68776e1d3