Search Results - "Faustinella, F."

Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family by FAUSTINELLA, F, CHANG, A, VAN BIERVLIET, J. P, ROSSENEU, M, VINAIMONT, N, SMITH, L. C, SAN-HWAN CHEN, CHAN, L

“…We studied the molecular basis of familial Type I hyperlipoproteinemia in two brothers of Turkish descent who had normal plasma apolipoprotein C-II levels and…”
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Structural and functional roles of highly conserved serines in human lipoprotein lipase. Evidence that serine 132 is essential for enzyme catalysis by FAUSTINELLA, F, SMITH, L. C, SEMENKOVICH, C. F, CHAN, L

“…The structure of human lipoprotein lipase was recently deduced from its cDNA sequence. It contains 8 serine residues (residues 45, 132, 143, 172, 193, 244,…”
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Optimizing liposome-mediated gene transfer in primary rat septo-hippocampal cell cultures by Yang, K, Faustinella, F, Xue, J J, Whitson, J, Kampfl, A, Mu, X S, Zhao, X, Taglialatela, G, Perez-Polo, J R, Clifton, G

“…Although liposomes have been widely employed to transfect DNA into a variety of cell types, no previous studies have systematically examined conditions…”
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Sustained expression of functional nerve growth factor in primary septo-hippocampal cell cultures by liposome-mediated gene transfer by Yang, K, Faustinella, F, Xue, J J, Whitson, J, Kampfl, A, Mu, X S, Zhao, X, Taglialatela, G, Perez-Polo, J R, Clifton, G

“…We examined liposome-mediated gene transfection of nerve growth factor (NGF) in primary central nervous system cultures. RT-PCR analyses detected increased…”
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A missense (Asp250—-Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency by Ishimura-Oka, K, Semenkovich, CF, Faustinella, F, Goldberg, IJ, Shachter, N, Smith, LC, Coleman, T, Hide, WA, Brown, WV, Oka, K

“…We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated families with the syndrome of familial…”
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Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats by REINER, O, CARROZZO, R, YING SHEN, WEHNERT, M, FAUSTINELLA, F, DOBYNS, W. B, CASKEY, C. T, LEDBETTER, D. H

“…Lissencephaly (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. Identification of the…”
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Cationic lipid-mediated NGF gene transfection increases neurofilament phosphorylation by Yang, K., Xue, J.J., Qiu, Y.H., Perez-Polo, J.R., Whitson, J., Faustinella, F., Kampfl, A., Zhao, X., Iwamoto, Y., Mu, X.S., Clifton, G., Hayes, R.L.

“…We examined the effect of cationic lipid-mediated gene transfection of nerve growth factor (NGF) in primary septo-hippocampal cell cultures. Rat NGF cDNA was…”
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Remediation strategies and students' clinical performance by Faustinella, Fabrizia, Orlando, Philip R, Colletti, Laura A, Juneja, Harinder S, Perkowski, Linda C

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Glomerulomegaly and proteinuria in a patient with idiopathic pulmonary hypertension by FAUSTINELLA, F, UZOH, C, SHEIKH-HAMAD, D, TRUONG, L. D, OLIVERO, J. J

“…Glomerulomegaly is a histologic finding present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep…”
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Functional topology of a surface loop shielding the catalytic center in lipoprotein lipase by Faustinella, Fabrizia, Smith, Louis C, Chan, Lawrence

“…Lipoprotein lipase (LPL), hepatic lipase, and pancreatic lipase show high sequence homology to one another. The crystal structure of pancreatic lipase suggests…”
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Rescue of injury-induced neurofilaments loss by BDNF gene transfection in primary septo-hippocampal cell cultures by Hayes, R.L., Yang, K., Whitson, J.S., Xue, J.J., Kampfl, A., Mu, X.S., Zhao, X., Faustinella, F., Clifton, G.L.

“…We employed primary septo-hippocampal cell cultures to determine the ability of liposome-mediated BDNF gene transfection to facilitate recovery of…”
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AML1 fusion transcripts in t(3;21) positive leukemia: evidence of molecular heterogeneity and usage of splicing sites frequently involved in the generation of normal AML1 transcripts by Sacchi, N, Nisson, P E, Watkins, P C, Faustinella, F, Wijsman, J, Hagemeijer, A

“…The t(3;21)(q26;q22) is associated with chronic myelogenous leukemia in blast crisis (CML-BC), leukemia evolving from (therapy-related) myelodysplasia, and…”
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A new family of murine retroviral vectors with extended multiple cloning sites for gene insertion by Faustinella, F, Kwon, H, Serrano, F, Belmont, J W, Caskey, C T, Aguilar-Cordova, E

“…Murine retroviral vectors with multiple unique cloning sites in the body and 3' long terminal repeat (LTR) are described. The various alterations to the…”
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A missense mutation (Trp super(86) arrow right Arg) in exon 3 of the lipoprotein lipase gene: A cause of familial chylomicronemia by Ishimura-Oka, K, Faustinella, F, Kihara, S, Smith, L C, Oka, K, Chan, L

“…We have investigated a patient of English ancestry with familial chylomicronemia caused by lipoprotein lipase (LPL) deficiency. DNA sequence analysis of all…”
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A missense mutation(Trp86→Arg) in exon 3 of the lipoprotein lipase gene : a caus of familial chylomincronemia by ISHIMURA-OKA, K, FAUSTINELLA, F, KIHARA, S, SMITH, L. C, OKA, K, CHAN, L

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A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia by Ishimura-Oka, K, Faustinella, F, Kihara, S, Smith, L C, Oka, K, Chan, L

“…We have investigated a patient of English ancestry with familial chylomicronemia caused by lipoprotein lipase (LPL) deficiency. DNA sequence analysis of all…”
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Rescue of injury-induced neurofilament loss by BDNF gene transfection in primary septo-hippocampal cell cultures by HAYES, R. L, YANG, K, WHITSON, J. S, XUE, J. J, KAMPFL, A, MU, X. S, ZHAO, X, FAUSTINELLA, F, CLIFTON, G. L

“…We employed primary septo-hippocampal cell cultures to determine the ability of liposome-mediated BDNF gene transfection to facilitate recovery of…”
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Lack of chromosome 22 rearrangements in lymphocytes of patients with bilateral acoustic neurofibromatosis by Faustinella, F, Larizza, L, Guerra, P, Tomei, G

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Karyotypic characterization of a new human embryonal rhabdomyosarcoma cell line by Magnani, I, Faustinella, F, Nanni, P, Nicoletti, G, Larizza, L

“…Chromosomal analysis of an advanced recurrent rhabdomyosarcoma of the embryonal type was performed on cell cultures in the 9th passage of in vitro cultivation…”
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