Search Results - "Dobrowolski, SF"

Host conditioning and rejection monitoring in hepatocyte transplantation in humans by Soltys, Kyle A, Setoyama, Kentaro, Tafaleng, Edgar N, Soto Gutiérrez, Alejandro, Fong, Jason, Fukumitsu, Ken, Nishikawa, Taichiro, Nagaya, Masaki, Sada, Rachel, Haberman, Kimberly, Gramignoli, Roberto, Dorko, Kenneth, Tahan, Veysel, Dreyzin, Alexandra, Baskin, Kevin, Crowley, John J, Quader, Mubina A, Deutsch, Melvin, Ashokkumar, Chethan, Shneider, Benjamin L, Squires, Robert H, Ranganathan, Sarangarajan, Reyes-Mugica, Miguel, Dobrowolski, Steven F, Mazariegos, George, Elango, Rajavel, Stolz, Donna B, Strom, Stephen C, Vockley, Gerard, Roy-Chowdhury, Jayanta, Cascalho, Marilia, Guha, Chandan, Sindhi, Rakesh, Platt, Jeffrey L, Fox, Ira J

“…Graphical abstract…”
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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency by Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial β-oxidation defect, and it is potentially fatal. Eighty…”
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Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene by McKinney, J.T, Longo, N, Hahn, S.H, Matern, D, Rinaldo, P, Strauss, A.W, Dobrowolski, S.F

“…Newborn screening by tandem mass spectrometry (MS/MS) identifies patients with medium chain acyl-CoA dehydrogenase (MCAD) deficiency the most frequently…”
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Rapid beta-globin genotyping by multiplexing probe melting temperature and color by Herrmann, M G, Dobrowolski, S F, Wittwer, C T

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Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency by Dobrowolski, Steven F, Angeletti, Janine, Banas, Richard A, Naylor, Edwin W

“…Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism caused by defects in the biotinidase gene. Symptoms of biotinidase deficiency…”
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Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia by Dobrowolski, Steven F, Banas, Richard A, Suzow, Joseph G, Berkley, Michelle, Naylor, Edwin W

“…Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. Prospective newborn screening for…”
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Detection and assignment of CYP21 mutations using peptide mass signature genotyping by Zeng, Xuemei, Witchel, Selma F, Dobrowolski, Steven F, Moulder, Peter V, Jarvik, Jonathan W, Telmer, Cheryl A

“…Congenital adrenal hyperplasia (CAH) is a common inborn error of steroidogenesis. The clinical spectrum of CAH ranges from the severe classical form, which can…”
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DNA microarray technology for neonatal screening by Dobrowolski, SF, Banas, RA, Naylor, EW, Powdrill, T, Thakkar, D

“…Modern molecular biology, owing much to the Human Genome Initiative, has elucidated many of the genetic mechanisms underlying heritable metabolic disease…”
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The regulation of endothelial cell motility by p21 ras by Fox, P L, Sa, G, Dobrowolski, S F, Stacey, D W

“…Directed endothelial cell (EC) movement is required for the development and repair of blood vessels and plays a critical role in angiogenic processes…”
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An E2F dominant negative mutant blocks E1A induced cell cycle progression by Dobrowolski, S F, Stacey, D W, Harter, M L, Stine, J T, Hiebert, S W

“…E2F is a cellular transcription factor that is regulated during the cell cycle through interactions with the product of the retinoblastoma susceptibility gene…”
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The adenovirus E1A protein overrides the requirement for cellular ras in initiating DNA synthesis by Stacey, D.W., Dobrowolski, S.F., Piotrkowski, A., Harter, M.L.

“…The adenovirus E1A protein can induce cellular DNA synthesis in growth‐arrested cells by interacting with the cellular protein p300 or pRb. In addition, serum‐…”
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