Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Samuel E. Lux"'
Autor:
Catherine D. Michelson, Theodore C. Sectish, Colin M. Sox, Conor P. O’Halloran, Samuel E. Lux, Caroline J. Gross, Ariel S. Winn
Publikováno v:
Academic Pediatrics. 20:1007-1012
Objective Our goal was to identify aspects of residency applications predictive of subsequent performance during pediatric internship. Methods We conducted a retrospective cohort study of graduates of US medical schools who began pediatric internship
Autor:
Rachael F. Grace, Narla Mohandas, Vijay G. Sankaran, John Hale, Jacob C. Ulirsch, Samuel E. Lux, Meghan C. Towne, Pankaj B. Agrawal, Jessica Lacy
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Whole-exome sequencing is increasingly used for diagnosis and identification of appropriate therapies in patients. Here, we present the case of a 3-yr-old male with a lifelong and severe transfusion-dependent anemia of unclear etiology, despite an ex
Autor:
Carlo Brugnara, John F. Heneghan, Seth L. Alper, Patrick G. Gallagher, Matthew M. Heeney, Kathryn M. John, Samuel E. Lux, Connie M. Westhoff, Allison F. O'Neill, Boris E. Shmukler, Xiaojin Li, David H. Vandorpe, Margaret Karpatkin, Alicia Rivera, Frans A. Kuypers, Daniel E. Bauer, Andrew K. Stewart, Ann Hsu
Publikováno v:
American Journal of Physiology-Cell Physiology. 301:C1325-C1343
Four patients with overhydrated cation leak stomatocytosis (OHSt) exhibited the heterozygous RhAG missense mutation F65S. OHSt erythrocytes were osmotically fragile, with elevated Na and decreased K contents and increased cation channel-like activity
Autor:
Catherine Korsgren, Samuel E. Lux
Publikováno v:
Blood. 116:2600-2607
Spectrin and protein 4.1R crosslink F-actin, forming the membrane skeleton. Actin and 4.1R bind to one end of β-spectrin. The adjacent end of α-spectrin, called the EF domain, is calmodulin-like, with calcium-dependent and calcium-independent EF ha
Autor:
Raymond F. Robledo, Michael C. Stankewich, Jon S. Morrow, Thomas Ardito, Lan Ji, Samuel E. Lux, Babette Gwynn, Jung H. Kim, Luanne L. Peters
Publikováno v:
Proceedings of the National Academy of Sciences. 107:6022-6027
The spectrin membrane skeleton controls the disposition of selected membrane channels, receptors, and transporters. In the brain βIII spectrin binds directly to the excitatory amino acid transporter (EAAT4), the glutamate receptor delta, and other p
Autor:
Samuel E. Lux
Publikováno v:
Blood. 127(2)
The red cell membrane skeleton is a pseudohexagonal meshwork of spectrin, actin, protein 4.1R, ankyrin, and actin-associated proteins that laminates the inner membrane surface and attaches to the overlying lipid bilayer via band 3–containing multip
Autor:
Xinhua Guo, Samuel E. Lux, Narla Mohandas, Walter Gratzer, Xiuli An, Anthony Baines, Shuwen Liu, Gargi Debnath
Publikováno v:
Biochemistry. 44:10681-10688
The ternary complex of spectrin, F-actin, and protein 4.1R defines the erythrocyte membrane skeletal network, which governs the stability and elasticity of the membrane. It has been shown that both 4.1R and actin bind to the N-terminal region (residu
Autor:
Renhua Li, Gary A. Churchill, Luanne L. Peters, Babette Gwynn, Samuel E. Lux, Amy J. Lambert, Rebecca A. Swearingen, Sabra G. Andersen
Publikováno v:
Blood. 103:3233-3240
Defects in red blood cell (RBC) membrane skeleton components cause hereditary spherocytosis (HS). Clinically, HS varies significantly even among individuals with identical gene defects, illustrating the profound effects of genetic background on disea
Autor:
Nadim Joni Shah, Gereon R. Fink, Uwe Pietrzyk, Afra Ritzl, Karl Zilles, Peter H. Weiss, John C. Marshall, Samuel E. Lux
Publikováno v:
Neuroscience. 124:113-120
When stimuli are presented in the left or right visual fields, hemispheric specialization for global and local processing in occipital areas is attenuated. Using functional magnetic resonance imaging, we investigated how this attenuation is compensat
Publikováno v:
British Journal of Haematology. 122:669-677
Nonsense/stop mutations in the ankyrin-1 gene (ANK1) are a major cause of dominant HS (dHS) (frequency of 23% in German dHS patients). To date, no common mutation has been found and therefore a simple mutation screening is not feasible. The reduced e