Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Erin M Finn"'
Publikováno v:
The American Journal of Medicine.
Autor:
Victoria Bender, Nathaniel C Warner, Carlos Rubiano, David Lynch, Nicholas Maston, James F. Rogers, Brian Bramson, Katherine A. Despotes, Erin M. Finn
Publikováno v:
Pediatrics. 147:629-630
Background: Resident competence in physical exam skills is lacking. Despite the advantages technology has afforded modern medicine, the reliance on laboratory and radiologic data has contributed to a decline in bedside clinical skills. Multiple artic
Publikováno v:
BMJ Case Rep
A 3-year-old healthy girl presented with intermittent spells of difficulty opening her mouth, talking and swallowing. Episodes began 3 weeks prior without any inciting incident. Initially occurring weekly, episodes were brief and self-resolving, but
Autor:
Mark A. Lemmon, Rebecca D. Ganetzky, Michael A. Simpson, John A. McGrath, Erin M Finn, Neal Sondheimer, Margaret Harr, Atrish Bagchi, Ornella Zollo, Laura K. Conlin, Matthew A. Deardorff, Elaine H. Zackai
Publikováno v:
Molecular Genetics & Genomic Medicine
Ganetzky, R, Finn, E, Bagchi, A, Zollo, O, Conlin, L, Deardorff, M, Harr, M, Simpson, M A, McGrath, J A, Zackai, E, Lemmon, M A & Sondheimer, N 2015, ' EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features ', Molecular genetics & genomic medicine, vol. 3, no. 5, pp. 452-8 . https://doi.org/10.1002/mgg3.156
Ganetzky, R, Finn, E, Bagchi, A, Zollo, O, Conlin, L, Deardorff, M, Harr, M, Simpson, M A, McGrath, J A, Zackai, E, Lemmon, M A & Sondheimer, N 2015, ' EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features ', Molecular genetics & genomic medicine, vol. 3, no. 5, pp. 452-8 . https://doi.org/10.1002/mgg3.156
The epidermal growth factor receptor (EGFR) is part of a large family of receptors required for communicating extracellular signals through internal tyrosine kinases. Epidermal growth factor (EGF) signaling is required for tissue development, whereas
Autor:
Erin M. Finn, George W. Clement, Sheila Rao, Kenneth D. Belanger, Elise P. DeRoo, Kate M. Kokanovich, Sarah E. Kruse
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1833(5):1096-1103
The transport of proteins between the cytoplasm and nucleus requires interactions between soluble transport receptors (karyopherins) and phenylalanine–glycine (FG) repeat domains on nuclear pore complex proteins (nucleoporins). However, the role of
Autor:
Kim M. Keppler-Noreuil, B. Maya Kato, James C. Mullikin, Catherine Blumhorst, Marjorie J. Lindhurst, Kimberly Hoag, Kevin O'Brien, Jennifer L. Cannons, Natasha Cherman, David Ng, Jennifer J. Johnston, Sergei A. Kuznetsov, Julie C Sapp, Thomas N. Darling, Steven S. Rothenberg, Roberto Tirabosco, Shlomo Wientroub, Elaine H. Zackai, Virender Singhal, Laurel C Blakemore, Matthew A. Deardorff, Pamela Gehron Robey, Kurt D. Newman, David B. Everman, Peter Calder, Joseph Upton, Douglas J. Schwartzentruber, Joyce T. Turner, Richard T. Miyamoto, Laura L. Tosi, Knut Brockmann, Tracey Whitewood-Neal, Gretchen Golas, Robert M. Greenstein, Leslie G. Biesecker, Kathryn F. Peters, Pamela L. Schwartzberg, Jamie K. Teer, David P. Bick, Erin M Finn
Publikováno v:
New England Journal of Medicine. 365:611-619
A b s t r ac t Background The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the non