Results 1 to 10 of about 974 (126)

Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders [PDF]

Medical Sciences (Basel, Switzerland), 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.
Magalie Barth, André S Bachmann, Clement Prouteau   +2 more
exaly   +5 more sources

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report [PDF]

BMC Pediatrics, 2023
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 defects. Here,
Claudia V. Aniol, Jeremy W. Prokop, Surender Rajasekaran, Spencer Pageau, Sydney K. Elizer, Elizabeth A. VanSickle, Caleb P. Bupp   +6 more
doaj   +2 more sources

Impact of structure and formulation changes on the function of insulin products [PDF]

Frontiers in Endocrinology
Insulin has played an important role in the treatment of diabetes since its discovery in the early 1920s. Initially derived from animal sources, insulin production underwent significant changes with the advent of recombinant DNA technology, allowing for ...
YeonJin Yang, Md. Shahinozzaman, Hyunsu Shin, Sujata Bupp, Carole Sourbier   +4 more
doaj   +2 more sources

Single-cell characterization of anterior segment development in the mouse reveals the cell types, pathways, and signals driving formation of the trabecular meshwork and Schlemm’s canal [PDF]

eLife
Morphogenesis of the anterior segment (AS) is crucial for healthy ocular physiology and vision, but is only partially understood. The Schlemm’s canal (SC) and trabecular meshwork (TM) are essential drainage tissues within the AS, and their proper ...
Revathi Balasubramanian, Nicholas Tolman, Taibo Li, Abdul Hannan, Violet Bupp-Chickering, Karina Polanco, Aakriti Bhandari, Sally Zhou, Marina Simón, John Peregrin, Christa Montgomery, Krishnakumar Kizhatil, Jiang Qian, Simon WM John   +13 more
doaj   +2 more sources

Novel machine learning technique further clarifies unrelated donor selection to optimize transplantation outcomes [PDF]

Blood Advances
: We investigated the impact of donor characteristics on outcomes in allogeneic hematopoietic cell transplantation (HCT) recipients using a novel machine learning approach, the Nonparametric Failure Time Bayesian Additive Regression Trees (NFT BART). NFT
Stephen R. Spellman, Rodney Sparapani, Martin Maiers, Bronwen E. Shaw, Purushottam Laud, Caitrin Bupp, Meilun He, Steven M. Devine, Brent R. Logan   +8 more
doaj   +2 more sources

Donor telomeres and their magnitude of shortening post-allogeneic haematopoietic cell transplant impact survival for patients with early-stage leukaemia or myelodysplastic syndromeResearch in context [PDF]

EBioMedicine
Summary: Background: Donor selection is a key success factor in allogeneic haematopoietic cell transplant (HCT). We evaluated the potential impact of donor leucocyte telomere length (LTL) and LTL shortening in recipients at three-month post-HCT (LTL-3MS)
Shahinaz M. Gadalla, Hormuzd A. Katki, Tsung-Po Lai, Paul L. Auer, Casey L. Dagnall, Caitrin Bupp, Amy A. Hutchinson, James J. Anderson, Kyra J.W. Mendez, Stephen R. Spellman, Valerie Stewart, Sharon A. Savage, Stephanie J. Lee, John E. Levine, Wael Saber, Abraham Aviv   +15 more
doaj   +2 more sources

Matched unrelated vs haploidentical donor hematopoietic cell transplantation using posttransplant cyclophosphamide [PDF]

Blood Advances
: Posttransplant cyclophosphamide (PTCy)-based graft-versus-host disease (GVHD) prophylaxis is now standard for matched unrelated donor (MUD) hematopoietic cell transplantation (HCT). Previous studies comparing MUD and haploidentical donor HCT using PTCy
Dipenkumar Modi, Yosra M. Aljawai, Todd E. DeFor, Caitrin Bupp, Monzr M. Al Malki, Javier Bolaños-Meade, Mahasweta Gooptu, Antonio M. Jimenez Jimenez, Hongtao Liu, Felix A. Mensah, Marco Mielcarek, Brian C. Shaffer, Bronwen E. Shaw, Stephen R. Spellman, Heather E. Stefanski, Jeffery J. Auletta, Steven M. Devine, Farhad Khimani, Ramzi Abboud   +18 more
doaj   +2 more sources

Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment [PDF]

eLife
Since the trabecular meshwork (TM) is central to intraocular pressure (IOP) regulation and glaucoma, a deeper understanding of its genomic landscape is needed.
Nicholas Tolman, Taibo Li, Revathi Balasubramanian, Guorong Li, Rebecca Pfeiffer, Violet Bupp-Chickering, Ruth A Kelly, Marina Simón, John Peregrin, Christa Montgomery, Bryan Jones, W Daniel Stamer, Jiang Qian, Simon WM John   +13 more
doaj   +2 more sources

Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity [PDF]

Function
The quantity of physiological data has grown exponentially, yielding insights into mechanisms of phenotypic and disease pathways. Among the powerful tools for physiological omics is the study of RNA, where broad sequencing of RNA leads to hypothesis ...
Jeremy W. Prokop, Stephanie M. Bilinovich, Ember Tokarski, Sangeetha Vishweswaraiah, Sophie VanderWeele, Akansha S. Das, Surya B. Chhetri, Alexander Dao, Sanjana Arora, Austin Goodyke, Katie L. Buelow, Mason Westgate, Elizabeth A. VanSickle, Claudia J. Edell, Lance N. Benson, Daniel B. Campbell, Caleb P. Bupp, Amanda Holsworth, Nicholas L. Hartog, Jena M. Krueger, Marcos Cordoba, Matthew Sims, Maximiliano A. Tamae Kakazu, Angela M. Peraino, Stewart F. Graham, Tim Triche, Elora Hussain, Mara L. Leimanis-Laurens, Connie M. Krawczyk, Jennifer S. Pollock, Surender Rajasekaran   +30 more
doaj   +2 more sources

Glucocorticoids intrinsically redirect naïve CD4+ T cells to the bone marrow for preservation in malnourished mice [PDF]

Biology Open
Madeline L. Smith, Jacob Hanes, Takesha R. Foster, Clay Phillips, Kwesi A. Dadzie, Melanie R. Gubbels Bupp   +5 more
doaj   +2 more sources