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Browsing by Subject "amino acid substitution"

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    • Article  

      Authors' reply 

      Constantinou-Deltas, Constantinos D.; Voskarides, Konstantinos (2010)

    • Article  

      Genetic analysis of HIV type 1 strains from newly infected untreated patients in cyprus: high genetic diversity and low prevalence of drug resistance. 

      Kousiappa, Ioanna; van de Vijver, D. A.; Demetriades, Ioannis; Kostrikis, Leontios G. (2009)
      Abstract The molecular epidemiology of HIV-1 infection was first studied in Cyprus in the mid-1990s, but the extent of HIV-1 diversity and the prevalence of drug resistance have remained elusive. In an effort to address ...

    • Article  

      Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5 

      Tsiakkis, D.; Pieri, Myrtani; Koupepidou, P.; Demosthenous, Panayiota; Panayidou, K.; Constantinou-Deltas, Constantinos D. (2012)

    • Article  

      Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining 

      Mean, R. J.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; Koptides, Michael (2004)

    • Article  

      Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2 

      Felekkis, Kyriacos N.; Koupepidou, P.; Kastanos, E.; Witzgall, R.; Bai, C. -X; Li, L.; Tsiokas, L.; Gretz, N.; Constantinou-Deltas, Constantinos D. (2008)
      Background. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the formation of multiple fluid-filled cysts that destroy the kidney architecture resulting in end-stage renal failure. Mutations in genes ...

    • 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  

      N-alpha-terminal Acetylation of Histone H4 Regulates Arginine Methylation and Ribosomal DNA Silencing 

      Schiza, V.; Molina-Serrano, D.; Kyriakou, DImitris; Hadjiantoniou, A.; Kirmizis, Antonis (2013)
      Post-translational modifications of histones play a key role in DNA-based processes, like transcription, by modulating chromatin structure. N-terminal acetylation is unique among the numerous histone modifications because ...

    • Article  

      New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles 

      Constantinides, Rolandos; Xenophontos, Stavroulla L.; Neophytou, Pavlos; Nomura, Shinsuke; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)
      The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...

    • Article  

      New compstatin peptides containing n-terminal extensions and non-natural amino acids exhibit potent complement inhibition and improved solubility characteristics 

      Gorham, R. D.; Forest, D. L.; Khoury, G. A.; Smadbeck, J.; Beecher, C. N.; Healy, E. D.; Tamamis, Phanourios; Archontis, Georgios Z.; Larive, C. K.; Floudas, C. A.; Radeke, M. J.; Johnson, L. V.; Morikis, D. (2015)
      Compstatin peptides are complement inhibitors that bind and inhibit cleavage of complement C3. Peptide binding is enhanced by hydrophobic interactions

    • 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 NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1 

      Koptides, Michael; Mean, R.; Stavrou, Christoforos V.; Pierides, Alkis M.; Demetriou, Kyproula; Nakayama, T.; Hildebrandt, F.; Fuchshuber, A.; Constantinou-Deltas, Constantinos D. (2001)
      Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...

    • 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  

      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  

      Primary resistance to integrase strand-transfer inhibitors in Europe 

      Moutschen, M.; Casadellà, M.; van Ham, P. M.; Noguera-Julian, M.; van Kessel, A.; Pou, C.; Hofstra, Laura Marije Arije; Santos, J. R.; Garcia, F.; Struck, D.; Alexiev, Ivailo; Bakken Kran, A. M.; Hoepelman, A. I.; Kostrikis, Leontios G.; Somogyi, Sybille; Liitsola, K.; Linka, M.; Nielsen, C.; Otelea, D.; Paraskevis, Dimitrios N.; Poljak, M.; Puchhammer-Stöckl, E.; Staneková, D.; Stanojevic, M.; Van Laethem, K.; Zidovec Lepej, S.; Clotet, B.; Boucher, C. A. B.; Paredes, R.; Wensing, A. M. J.; Puchhammer-Stöckl, E.; Sarcletti, M.; Schmied, B.; Geit, M.; Balluch, G.; Vandamme, A. M.; Vercauteren, J.; Derdelinckx, I.; Sasse, A.; Bogaert, M.; Ceunen, H.; De Roo, A.; De Wit, S.; Echahidi, F.; Fransen, K.; Goffard, J. C.; Goubau, P.; Goudeseune, E.; Yombi, J. C.; Lacor, P.; Liesnard, C.; Pierard, D.; Rens, R.; Schrooten, Y.; Vaira, D.; Vandekerckhove, L. P.; Van den Heuvel, A.; Van Der Gucht, B.; Van Ranst, M.; Van Wijngaerden, E.; Vandercam, B.; Vekemans, M.; Verhofstede, C.; Clumeck, N.; Van Laethem, K.; Beshkov, Danail; Alexiev, Ivailo; Zidovec Lepej, S.; Begovac, J.; Demetriades, Ioannis; Kousiappa, Ioanna; Demetriou, Victoria L.; Hezka, Johana; Linka, M.; Machala, L.; Maly, M.; Nielsen, C.; Jørgensen, L. B.; Gerstoft, J.; Mathiesen, L.; Pedersen, C.; Nielsen, H.; Laursen, A.; Kvinesdal, B.; Liitsola, K.; Ristola, M.; Suni, J.; Sutinen, J.; Hamouda, O.; Kücherer, C.; Berg, T.; Braun, P.; Poggensee, G.; Däumer, M.; Eberle, J.; Heiken, H.; Kaiser, R.; Knechten, H.; Korn, K.; Müller, H.; Neifer, S.; Schmidt, B.; Walter, H.; Gunsenheimer-Bartmeyer, B.; Harrer, T.; Paraskevis, Dimitrios N.; Hatzakis, Angelos E.; Magiorkinis, Emmanouil N.; Hatzitheodorou, Eleni; Haida, Catherine; Zavitsanou, Assimina; Magiorkinis, Gkikas; Lazanas, Marios C.; Chini, Maria C.; Magafas, N.; Tsogas, Nickolaos; Paparizos, Vassilios A.; Kourkounti, Sofia; Antoniadou, Anastasia C.; Papadopoulos, Antonios I.; Panagopoulos, Periklis; Poulakou, Garyphallia G.; Sakka, V.; Chryssos, Georgios; Drimis, Stylianos; Gargalianos, Panagiotis; Lelekis, Moyssis I.; Chilomenos, G.; Psichogiou, Mina A.; Daikos, George L.; Sabatakou, H.; Panos, George; Haratsis, G.; Kordossis, Theodore; Kontos, Athanasios N.; Koratzanis, Georgios; Theodoridou, Maria C.; Mostrou, Glykeria J.; Spoulou, Vana I.; Schmit, J. C.; Struck, D.; Hemmer, R.; Arendt, V.; Staub, T.; Schneider, F.; Roman, F.; Wensing, A. M.; Boucher, C. A.; van de Vijver, D. A.; van Kessel, A.; van, P. H.; Brinkman, K.; Op de, E. L.; van der Ende, M. E.; Hoepelman, I. M.; van Kasteren, M.; Juttmann, J.; Kuipers, M.; Langebeek, N.; Richter, C.; Santegoets, R. M.; Schrijnders-Gudde, L.; Schuurman, R.; van de Ven, B. J.; Åsjö, Birgitta; Bakken, A. M.; Ormaasen, V.; Aavitsland, P.; Otelea, D.; Paraschiv, S.; Tudor, A. M.; Jevtovic, D.; Salemovic, D.; Stanekova, D.; Habekova, M.; Mokráš, Miloš; Truska, P.; Poljak, M.; Lunar, M.; Babic, Dunja Z.; Tomazic, J.; Vidmar, L.; Vovko, T.; Karner, P.; Clotet, B.; Garcia, F.; Domingo, P.; Galindo, M. J.; Miralles, C.; Del, M. A.; Ribera, E.; Iribarren, J. A.; Ruiz, L.; de la Torre, J.; Vidal, F.; Garcia, F.; Paredes, R. (2015)
      Objectives: The objective of this study was to define the natural genotypic variation of the HIV-1 integrase gene across Europe for epidemiological surveillance of integrase strand-transfer inhibitor (InSTI) resistance. ...

    • Article  

      A single base mutation in type I procollagen (COL1A1) that converts glycine α1-541 to aspartate in a lethal variant of osteogenesis imperfecta: Detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR 

      Zhuang, J.; Constantinou-Deltas, Constantinos D.; Ganguly, A.; Prockop, D. J. (1991)
      Skin fibroblasts from a proband with a lethal variant of osteogenesis imperfecta synthesized both apparently normal type I procollagen and a type I procollagen that had slow electrophoretic mobility because of posttranslational ...

    • Article  

      A single base mutation that converts glycine 907 of the α2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix 

      Baldwin, C. T.; Constantinou-Deltas, Constantinos D.; Dumars, K. W.; Prockop, D. J. (1989)
      Type I procollagen was examined in cultured skin fibroblasts from a patient with a lethal variant of osteogenesis imperfecta. About half of the pro-α chains were post-translationally overmodified and had a decreased thermal ...

    • Article  

      A Substitution of Cysteine for Glycine 904 in COL1A1 in a Proband with Lethal Osteogenesis Imperfecta and in Her Asymptomatic Mother 

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

    • Article  

      Substitution of cysteine for glycine-α1-691 in the proα1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution 

      Steinmann, B.; Westerhausen, A.; Constantinou-Deltas, Constantinos D.; Superti-Furga, A.; Prockop, D. J. (1991)
      Skin fibroblast from a proband with lethal osteogenesis imperfecta synthesized a type I procollagen containing a cysteine residue in the α1(I) helical domain. Assay of thermal stability of the triple helix by proteinase ...

    • Article  

      Substitutions for glycine α1-637 and glycine α2-694 of type I procollagen in lethal osteogenesis imperfecta: The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix 

      Tsuneyoshi, T.; Westerhausen, A.; Constantinou-Deltas, Constantinos D.; Prockop, D. J. (1991)
      Two substitutions for glycine in the triple-helical domain were found in type I procollagen synthesized by skin fibroblasts from two probands with lethal osteogenesis imperfecta. One was a substitution of valine for glycine ...

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