Browsing by Subject "Base Sequence"

Article

The identification and characterization of KRAB-domain-containing zinc finger proteins

Constantinou-Deltas, Constantinos D.; Gilbert, J.; Bartlett, R. J.; Herbstreith, M.; Roses, A. D.; Lee, J. E. (1992)

The zinc finger motif is a highly conserved tandemly repeated sequence of 28-30 amino acids that was first identified in transcription factor TFIIIA from Xenopus laevis. Subsequently, similar motifs were found and characterized ...

Article

Identification of the polycomb group protein SU(Z)12 as a potential molecular target for human cancer therapy

Kirmizis, Antonis; Bartley, S. M.; Farnham, P. J. (2003)

We have previously identified SU(Z)12 as an E2F target gene. Because many E2F target genes encode proteins that are critical for the control of cell proliferation, we have further characterized the regulation and expression ...

Article

An isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I)

Gao, F.; Robertson, D. L.; Carruthers, C. D.; Li, Y.; Bailes, E.; Kostrikis, Leontios G.; Salminen, M. O.; Bibollet-Ruche, F.; Peeters, M.; Ho, David D.; Shaw, G. M.; Sharp, P. M.; Hahn, B. H. (1998)

Full-length reference clones and sequences are currently available for eight human immunodeficiency virus type 1 (HIV-1) group M subtypes (A through H), but none have been reported for subtypes I and J, which have only ...

Article

KIF2β, a new kinesin superfamily protein in non-neuronal cells, is associated with lysosomes and may be implicated in their centrifugal translocation

Santama, Niovi; Krijnse-Ĺocker, J.; Griffiths, G.; Noda, Y.; Hirokawa, N.; Dotti, C. G. (1998)

Lysosomes concentrate juxtanuclearly in the region around the microtubule-organizing center by interaction with microtubules. Different experimental and physiological conditions can induce these organelles to move to the ...

Article

Kinetics, in silico docking, molecular dynamics, and MM-GBSA binding studies on prototype indirubins, KT5720, and staurosporine as phosphorylase kinase ATP-binding site inhibitors: The role of water molecules examined

Bischler, N.; Hayes, Joseph M.; Skamnaki, Vicky T.; Archontis, Georgios Z.; Lamprakis, Christos; Sarrou, Josephine; Skaltsounis, Alexios Leandros; Zographos, Spyros E.; Oikonomakos, Nikos G. (2011)

With an aim toward glycogenolysis control in Type 2 diabetes, we have investigated via kinetic experiments and computation the potential of indirubin (IC 50 > 50 μM), indirubin-3'-oxime (IC 50 = 144 nM), KT5720 (K i = 18.4 ...

Article

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the α1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen

Constantinou-Deltas, Constantinos D.; Nielsen, K. B.; Prockop, D. J. (1989)

A fraction of the proα1(I) and proα2(I) chains in type I procollagen synthesized by the fibroblasts from a proband with a lethal variant of osteogenesis imperfecta were overmodified by posttranslational reactions. After ...

Article

Measuring recent thymic emigrants in blood of normal and HIV-1-infected individuals before and after effective therapy

Zhang, L.; Lewin, S. R.; Markowitz, M.; Lin, L. -H; Skulsky, E.; Karanicolas, R.; Yuxian, H.; Xia, J.; Tuttleton, S.; Vesanen, M.; Spiegel, H.; Kost, R.; Van Lunzen, J.; Stellbrink, H. -J; Wolinsky, S.; Borkowsky, W.; Palumbo, P.; Kostrikis, Leontios G.; Ho, David D. (1999)

The role of the thymus in HIV-1 pathogenesis remains unclear. We developed an assay to quantify the number of recent thymic emigrants in blood based on the detection of a major excisional DNA byproduct (termed α1 circle) ...

Article

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

Spotila, L. D.; Colige, A.; Sereda, L.; Constantinou-Deltas, Constantinos D.; Whyte, M. P.; Riggs, L. B.; Shaker, J. L.; Spector, T. D.; Hume, E.; Olsen, N.; Attie, M.; Tenenhouse, A.; Shane, E.; Briney, W.; Prockop, D. J. (1994)

Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with ...

Article

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: Evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

Spotila, L. D.; Constantinou-Deltas, Constantinos D.; Sereda, L.; Ganguly, A.; Riggs, B. L.; Prockop, D. J. (1991)

Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here we show that a 52-year-old ...

Article

Mutations in type I procollagen genes that cause osteogenesis imperfecta

Prockop, D. J.; Baldwin, C. T.; Constantinou-Deltas, Constantinos D. (1990)

Article

Neural hyperplasia induced by RNA interference with m4/mα gene activity

Nagel, A. C.; Apidianakis, Yiorgos; Wech, I.; Maier, D.; Delidakis, Christos; Preiss, A. (2000)

The E(spl) complex (E(spl)-C) contains three different classes of genes that are downstream of Notch signaling. The bHLH genes mediate the Notch signal by repressing proneural gene activity, for example during the ...

Article

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients

Ritis, K.; Giaglis, Stavros; Spathari, N.; Micheli, A.; Zonios, D.; Tzoanopoulos, D.; Constantinou-Deltas, Constantinos D.; Rafail, S.; Mean, R.; Papadopoulos, Vassilios P.; Tzioufas, A. G.; Moutsopoulos, H. M.; Kartalis, G. (2004)

Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...

Article

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

Boteva, Kalina; Papageorgiou, Elena; Georgiou, Christina; Angastiniotis, Michael A.; Middleton, Lefkos T.; Constantinou-Deltas, Constantinos D. (1994)

Cyprus is an island in the eastern Mediter-ranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful ...

Article

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

Bouba, I.; Koptides, Michael; Mean, R.; Costi, Constantina Eleni; Demetriou, Kyproula; Georgiou, Ioannis A.; Pierides, Alkis M.; Siamopoulos, K.; Constantinou-Deltas, Constantinos D. (2001)

The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...

Article

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)

Article

Persistence of episomal HIV-1 infection intermediates in patients on highly active anti-retroviral therapy

Sharkey, M. E.; Teo, I.; Greenough, T.; Sharova, N.; Luzuriaga, K.; Sullivan, J. L.; Bucy, R. P.; Kostrikis, Leontios G.; Haase, A.; Veryard, C.; Davaro, R. E.; Cheeseman, S. H.; Daly, J. S.; Bova, C.; Ellison III, R. T.; Mady, B.; Lai, K. K.; Moyle, G.; Nelson, M.; Gazzard, B.; Shaunak, S.; Stevenson, M. (2000)

Treatment of HIV-1-infected individuals with a combination of anti- retroviral agents results in sustained suppression of HIV-1 replication, as evidenced by a reduction in plasma viral RNA to levels below the limit of ...

Article

Phenotypic heterogeneity in osteogenesis imperfecta: The mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen gene (COL1A1)

Constantinou-Deltas, Constantinos D.; Pack, M. A.; Young, S. B.; Prockop, D. J. (1990)

A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for α1-glycine 904 to a codon ...

Article

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

Mochizuki, Toshio; Wu, G.; Hayashi, Tomohito; Xenophontos, Stavroulla L.; Veldhuisen, B.; Saris, J. J.; Reynolds, D. M.; Cai, Y.; Gabow, P. A.; Pierides, Alkis M.; Kimberling, W. J.; Breuning, M. H.; Constantinou-Deltas, Constantinos D.; Peters, D. J. M.; Somlo, Stefan (1996)

A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...

Article

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families

Constantinou-Deltas, Constantinos D.; Christodoulou, Kyproula; Tjakouri, C.; Pierides, Alkis M. (1996)

Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...

Article

Pvull polymorphism at the COL1A2 locus

Constantinou-Deltas, Constantinos D.; Spotila, L. D.; Zhuang, J.; Sereda, L.; Hanning, C.; Prockop, D. J. (1990)