Search Results - "Péterfy, M."

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia by Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Péterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M.

“…  Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Péterfy M, Kastelein JJP, Johansen CT, Hegele RA, Stroes…”
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Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin by Péterfy, Miklós, Reue, Karen, Phan, Jack, Xu, Ping

“…Mice carrying mutations in the fatty liver dystrophy (fld) gene have features of human lipodystrophy, a genetically heterogeneous group of disorders…”
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[21] FUNCTIONAL ANALYSIS OF A NOVEL LMF1 NONSENSE MUTATION ASSOCIATED TO SEVERE HYPERTRIGLYCERIDEMIA by Cefalù, A.B, Noto, D, Arpi, M.L, Yin, F, Spina, R, Hilden, H, Barbagallo, C.M, Carroccio, A, Tarugi, P, Squatrito, S, Vigneri, R, Taskinen, M.R, Péterfy, M, Averna, M.R

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Mouse models of lipodystrophy by Reue, K, Péterfy, M

“…Lipodystrophies are a group of heterogeneous diseases characterized by the loss of adipose tissue and by abnormalities of carbohydrate and lipid metabolism,…”
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Genetic, Physical, and Transcript Map of the fld Region on Mouse Chromosome 12 by Péterfy, Miklós, Phan, Jack, Oswell, Gregory M., Xu, Ping, Reue, Karen

“…The fatty liver dystrophy (fld) mutation is manifested in abnormalities of lipid and glucose metabolism and peripheral neuropathy. To identify the gene…”
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Lissencephaly-1 is one of the most conserved proteins between mouse and human: a single amino-acid difference in 410 residues by Péterfy, M, Gyuris, T, Basu, R, Takács, L

“…The nucleotide (nt) sequence of the LIS-1 cDNA encoding the murine lissencephaly-1 (LIS-1) protein has been determined. The deduced protein shows a very high…”
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Cloning and Characterization of cDNAs and the Gene Encoding the Mouse Platelet-Activating Factor Acetylhydrolase Ib α Subunit/Lissencephaly-1 Protein by Péterfy, Miklós, Gyuris, Tibor, Grosshans, David, Cuaresma, Christina C., Takács, László

“…Platelet-activating factor acetylhydrolases (PAF-AHs) play an important role in the metabolism of PAF, a potent phospholipid mediator affecting various…”
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Centromere Formation in Mouse Cells Cotransformed with Human DNA and a Dominant Marker Gene by Hadlaczky, Gyula, Praznovszky, Tunde, Cserpan, Imre, Kereso, Judit, Peterfy, Miklos, Kelemen, Ildiko, Atalay, Erol, Szeles, Anna, Szelei, Jozsef, Tubak, Vilmos, Burg, Kornel

“…A 13,863-base-pair (bp) putative centromeric DNA fragment has been isolated from a human genomic library by using a probe obtained from metaphase chromosomes…”
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Increased urinary dipeptidyl peptidase IV activity in extrahepatic biliary atresia by Rákoczi, G, Takács, L, Jakabfi, P, Kunos, I, Selmeci, L, Gyuris, T, Péterfy, M, Verebély, T, Perner, F

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Signal-exon trap: a novel method for the identification of signal sequences from genomic DNA by Péterfy, M, Gyuris, T, Takács, L

“…We describe a genomic DNA-based signal sequence trap method, signal-exon trap (SET), for the identification of genes encoding secreted and membrane-bound…”
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328 LIPIN: A NOVEL MODULATOR OF ADIPOSITY by Phan, J., Peterfy, M., Reue, K.

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Localization of the mouse lissencephaly-1 gene to mouse chromosome 11B3, in close proximity to D11Mit65 by Péterfy, M, Hozier, J C, Hall, B, Gyuris, T, Péterfy, K, Takécs, L

“…Lissencephaly is a human brain malformation manifested by a smooth cerebral surface and severe mental retardation. Some of the patients have been shown to have…”
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Lipin expression preceding peroxisome proliferator-activated receptor-gamma is critical for adipogenesis in vivo and in vitro by Phan, Jack, Péterfy, Miklós, Reue, Karen

“…We recently identified mutations in the lipin gene, Lpin1, as the cause of lipodystrophy in the fatty liver dystrophy (fld) mouse. Here we identify impaired…”
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Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome by Péterfy, Miklós, Gyuris, Tibor, Antonio, Laarni, Takács, László

“…Isolated lissencephaly sequence and Miller–Dieker syndrome are related neurodevelopmental disorders caused by defects of the LIS1 gene encoding the α subunit…”
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Impaired ristocetin aggregation in myeloma due to binding of the aggregating agent by monoclonal protein--presentation of a case by László, E, Péterfy, M, Puskás, E

“…In a case of severe IgG kappa myeloma with cryoglobulinaemia usual concentrations of epinephrine, collagen, ADP, arachidonic acid, thrombin and ristocetin…”
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MS-IRS PCR: a simple method for the isolation of microsatellites by Phan, J, Reue, K, Péterfy, M

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Alternatively Spliced Lipin Isoforms Exhibit Distinct Expression Pattern, Subcellular Localization, and Role in Adipogenesis by Péterfy, Miklós, Phan, Jack, Reue, Karen

“…We recently identified mutations in the Lpin1 (lipin) gene to be responsible for lipodystrophy in the fatty liver dystrophy (fld) mouse strain. Previous…”
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Dipeptidyl peptidase activity of CD26 in serum and urine as a marker of cholestasis: Experimental and clinical evidence by Perner, Ferenc, Gyuris, Tibor, Rákóczy, György, Sárváry, Enikö, Görög, Dénes, Szalay, Ferenc, Kunos, Ildikó, Szönyi, László, Péterfy, Miklós, Takács, László

“…Dipeptidyl peptidase IV (CD26) is a membrane-associated enzyme that is expressed on the surface of T cells and on the hepatocyte brush border. In a soluble…”
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Lamin B1 Is Required for Mouse Development and Nuclear Integrity by Vergnes, Laurent, Péterfy, Miklós, Bergo, Martin O., Young, Stephen G., Reue, Karen, Collins, Francis S.

“…Lamins are key structural components of the nuclear lamina, an intermediate filament meshwork that lies beneath the inner nuclear membrane. Lamins play a role…”
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Induction of alpha interferon by human immunodeficiency virus type 1 in human monocyte-macrophage cultures by SZEBENI, J, DIEFFENBACH, C, WEINSTEIN, J. N, WAHL, S. M, VENKATESHAN, C. N, YEH, A, POPOVIC, M, GARTNER, S, WAHL, L. M, PETERFLY, M, FRIEDMAN, R. M

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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