Browsing by Subject "sequence analysis"

Now showing items 1-12 of 12

    • Article  

      A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta 

      Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, Constantinos D.; Cetta, G.; Pignatti, P. F. (1994)
      Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint ...
    • Article  

      Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation 

      Gao, F.; Vidal, N.; Li, Y.; Trask, S. A.; Chen, Y.; Kostrikis, Leontios G.; Ho, David D.; Kim, J.; Oh, M. -D; Choe, K.; Salminen, M.; Robertson, D. L.; Shaw, G. M.; Hahn, B. H.; Peeters, M. (2001)
      Members of HIV-1 group M are responsible for the vast majority of AIDS cases worldwide and have been classified on the basis of their phylogenetic relationships into nine roughly equidistant clades, termed subtypes. Although ...
    • Article  

      Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing 

      Papazachariou, Louiza; Demosthenous, Panayiota; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2014)
      Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
    • Article  

      Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing 

      Papazachariou, Louiza; Demosthenous, Panayiota M.; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos A.; Constantinou-Deltas, Constantinos D. (2014)
      Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
    • 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  

      Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing 

      Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)
      Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
    • 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  

      Re-analysis of human immunodeficiency virus type 1 isolates from Cyprus and Greece, initially designated 'subtype I', reveals a unique complex A/G/H/K/? mosaic pattern 

      Paraskevis, Dimitrios N.; Magiorkinis, M.; Vandamme, A. M.; Kostrikis, Leontios G.; Hatzakis, Angelos E. (2001)
      Human immunodeficiency virus type 1 (HIV-1) has been classified into three main groups and 11 distinct subtypes. Moreover, several circulating recombinant forms (CRFs) of HIV-1 have been recently documented to have spread ...
    • Article  

      Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches 

      Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2009)
      SURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA. It is much faster, cheaper, more sensitive, and easier to perform than other "traditional" mutation ...
    • Article  

      Spectral density ratio based clustering methods for the binary segmentation of protein sequences: A comparative study 

      Ioannou, Androulla; Fokianos, Konstantinos; Promponas, Vasilis J. (2010)
      We compare several spectral domain based clustering methods for partitioning protein sequence data. The main instrument for this exercise is the spectral density ratio model, which specifies that the logarithmic ratio of ...
    • Article  

      Steps toward understanding the inheritance of repressive methyl-lysine marks in histones 

      Reinberg, D.; Chuikov, S.; Farnham, P.; Karachentsev, D.; Kirmizis, Antonis; Kuzmichev, A.; Margueron, R.; Nishioka, K.; Preissner, T. S.; Sarma, K.; Abate-Shen, C.; Steward, R.; Vaquero, A. (2004)
    • Article  

      Trends and predictors of transmitted drug resistance (TDR) and clusters with TDR in a local Belgian HIV-1 epidemic 

      Pineda-Peña, A. -C; Schrooten, Y.; Vinken, L.; Ferreira, F.; Li, G.; Trovão, N. S.; Khouri, R.; Derdelinckx, I.; De Munter, P.; Kuc̈herer, C.; Kostrikis, Leontios G.; Nielsen, C.; Littsola, K.; Wensing, A.; Stanojevic, M.; Paredes, R.; Balotta, Claudia; Albert, Jan; Boucher, C.; Gomez-Lopez, A.; Van Wijngaerden, E.; Van Ranst, M.; Vercauteren, J.; Vandamme, A. M.; Van Laethem, K. (2014)
      We aimed to study epidemic trends and predictors for transmitted drug resistance (TDR) in our region, its clinical impact and its association with transmission clusters. We included 778 patients from the AIDS Reference ...