Browsing by Subject "mutation"

Now showing items 21-33 of 33

    • Article  

      Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations 

      Nagara, Majdi; Voskarides, Konstantinos; Nouira, S.; Ben Halim, N.; Kefi Ben Atig, Rym; Aloulou, Hajer; Romdhane, L.; Ben Abdallah, R.; Ben Rhouma, F.; Aissa, K.; Boughamoura, L.; Kammoun, T.; Azzouz, H.; Abroug, S.; Ben Turkia, H.; Ayadi, A.; Mrad, R.; Chabchoub, I.; Hachicha, M.; Chemli, J.; Constantinou-Deltas, Constantinos D.; Abdelhak, S. (2014)
      BACKGROUND: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant ...
    • Article  

      The mouse Foxi3 transcription factor is necessary for the development of posterior placodes 

      Birol, O.; Ohyama, T.; Edlund, R. K.; Drakou, Katerina; Georgiades, Pantelis; Groves, A. K. (2016)
      The inner ear develops from the otic placode, one of the cranial placodes that arise from a region of ectoderm adjacent to the anterior neural plate called the pre-placodal domain. We have identified a Forkhead family ...
    • 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  

      A quorum sensing regulated small volatile molecule reduces acute virulence and promotes chronic infection phenotypes 

      Kesarwani, M.; Hazan, R.; He, J.; Que, Y.; Apidianakis, Yiorgos; Lesic, B.; Xiao, G.; Dekimpe, V.; Milot, S.; Déziel, Eric; Lépine, F.; Rahme, L. G. (2011)
      A significant number of environmental microorganisms can cause serious, even fatal, acute and chronic infections in humans. The severity and outcome of each type of infection depends on the expression of specific bacterial ...
    • Article  

      Recognition and discrimination of gases by the oxygen-sensing signal transducer protein HemAT as revealed by FTIR spectroscopy 

      Pinakoulaki, Eftychia; Yoshimura, H.; Yoshioka, S.; Aono, S.; Varotsis, Constantinos (2006)
      The determination of ligand binding properties is a key step in our understanding of gas sensing and discrimination by gas sensory proteins. HemAT is a newly discovered signal transducer heme protein that recognizes O 2 ...
    • Article  

      Screening for Familial Mediterranean Fever M694V and V726A mutations in the Greek population. 

      Gkretsi, V.; Constantinou-Deltas, Constantinos D.; Yapijakis, C.; Lamnissou, Klea (2009)
      Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. FMF patients suffer from recurrent episodes of fever accompanied by ...
    • 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  

      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  

      Species specificity of the complement inhibitor compstatin investigated by all-atom molecular dynamics simulations 

      Tamamis, Phanourios; Morikis, D.; Floudas, C. A.; Archontis, Georgios Z. (2010)
      The development of compounds to regulate the activation of the complement system in non-primate species is of profound interest because it can provide models for human diseases. The peptide compstatin inhibits protein C3 ...
    • Article  

      The substitution of arginine for glycine 85 of the α1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen 

      Deak, S. B.; Scholz, P. M.; Amenta, P. S.; Constantinou-Deltas, Constantinos D.; Levi-Minzi, S. A.; Gonzalez-Lavin, L.; Mackenzie, J. W. (1991)
      We report a case of mild osteogenesis imperfecta in a 56-year-old male undergoing aortic valve replacement surgery. The primary defect in this patient was the substitution of arginine for glycine 85 in one of the two chains ...
    • 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 ...
    • Article  

      Transmission of HIV drug resistance and the predicted effect on current first-line regimens in Europe 

      Moutschen, M.; Hofstra, Laura Marije Arije; Sauvageot, Nicolas; Albert, Jan; Alexiev, Ivailo; Garcia, F.; Struck, D.; Van De Vijver, D. A. M. C.; Åsjö, Birgitta; Beshkov, Danail; Coughlan, S.; Descamps, D.; Griskevicius, A.; Hamouda, O.; Horban, A.; Van Kasteren, M.; Kolupajeva, T.; Kostrikis, Leontios G.; Liitsola, K.; Linka, M.; Mor, O.; Nielsen, C.; Otelea, D.; Paraskevis, Dimitrios N.; Paredes, R.; Poljak, M.; Puchhammer-Stöckl, E.; Sönnerborg, A.; Staneková, D.; Stanojevic, M.; Van Laethem, K.; Zazzi, M.; Lepej, S. Z.; Boucher, C. A. B.; Schmit, J. -C; Wensing, A. M. J.; Puchhammer-Stockl, 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. R.; 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; Lepej, S. Z.; Begovac, J.; Kostrikis, Leontios G.; Demetriades, Ioannis; Kousiappa, Ioanna; Demetriou, Victoria L.; Hezka, Johana; Linka, M.; Maly, M.; Machala, L.; 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.; Descamps, D.; Assoumou, L.; Castor, G.; Grude, M.; Flandre, P.; Storto, A.; 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.; Zavitsanou, Assimina; Vassilakis, A.; Lazanas, Marios C.; Chini, Maria C.; Lioni, A.; Sakka, V.; Kourkounti, Sofia; Paparizos, Vassilios A.; Antoniadou, Anastasia C.; Papadopoulos, Antonios I.; Poulakou, Garyphallia G.; Katsarolis, I.; Protopapas, K.; Chryssos, Georgios; Drimis, Stylianos; Gargalianos, Panagiotis; Xylomenos, Georgios; Lourida, G.; Psichogiou, Mina A.; Daikos, George L.; Sipsas, N. V.; Kontos, Athanasios N.; Gamaletsou, M. N.; Koratzanis, Georgios; Sambatakou, E.; Mariolis, H.; Skoutelis, A.; Papastamopoulos, V.; Georgiou, O.; Panagopoulos, Periklis; Maltezos, E.; Coughlan, S.; De Gascun, C.; Byrne, C.; Duffy, M.; Bergin, C.; Reidy, D.; Farrell, G.; Lambert, J.; O'Connor, E.; Rochford, A.; Low, J.; Coakely, P.; O'Dea, S.; Hall, W.; Mor, O.; Levi, I.; Chemtob, D.; Grossman, Z.; Zazzi, M.; De Luca, A.; Balotta, Claudia; Riva, C.; Mussini, C.; Caramma, I.; Capetti, A.; Colombo, M. C.; Rossi, C.; Prati, F.; Tramuto, F.; Vitale, F.; Ciccozzi, M.; Angarano, G.; Rezza, G.; Kolupajeva, T.; Kolupajeva, T.; Vasins, O.; Griskevicius, A.; Lipnickiene, V.; Schmit, J. C.; Struck, D.; Sauvageot, Nicolas; Hemmer, R.; Arendt, V.; Michaux, C.; Staub, T.; Sequin-Devaux, C.; Wensing, A. M. J.; Boucher, C. A. B.; Van Kessel, A.; Van Bentum, P. H. M.; Brinkman, K.; Connell, B. J.; Van Der Ende, M. E.; Hoepelman, I. M.; Van Kasteren, M.; Kuipers, M.; Langebeek, N.; Richter, C.; Santegoets, R. M. W. J.; Schrijnders-Gudde, L.; Schuurman, R.; Van De Ven, B. J. M.; Åsjö, Birgitta; Kran, A. -M B.; Ormaasen, V.; Aavitsland, P.; Horban, A.; Stanczak, J. J.; Stanczak, G. P.; Firlag-Burkacka, E.; Wiercinska-Drapalo, A.; Jablonowska, E.; Maolepsza, E.; Leszczyszyn-Pynka, M.; Szata, W.; Camacho, Ricardo J.; Palma, C.; Borges, F.; Paixão, T.; Duque, V.; Araújo, F.; Otelea, D.; Paraschiv, S.; Tudor, A. M.; Cernat, R.; Chiriac, C.; Dumitrescu, F.; Prisecariu, L. J.; Jevtovic, Dj; Salemovic, D.; Stanekova, D.; Habekova, M.; Chabadová, Z.; Drobkova, T.; Bukovinova, P.; Shunnar, A.; Truska, P.; Poljak, M.; Lunar, M.; Babic, Dunja Z.; Tomazic, J.; Vidmar, L.; Vovko, T.; Karner, P.; Garcia, F.; Paredes, R.; Monge, S.; Moreno, S.; Del Amo, J.; Asensi, V.; Sirvent, J. L.; De Mendoza, C.; Delgado, R.; Gutiérrez, F.; Berenguer, J.; Garcia-Bujalance, S.; Stella, Natalia C.; Blanco, J. R.; Dalmau, D.; Rivero, M.; Segura, F.; Elıás, Marıá Jesús Pérez; Alvarez, M.; Chueca, N.; Rodríguez-Martín, C.; Vidal, C.; Palomares, J. C.; Viciana, I.; Viciana, P.; Cordoba, J.; Aguilera, A.; Domingo, P.; Galindo, M. J.; Miralles, C.; Del Pozo, M. A.; Ribera, E.; Iribarren, J. A.; Ruiz, L.; De La Torre, J.; Vidal, F.; Clotet, B.; Albert, Jan; Heidarian, A.; Aperia-Peipke, K.; Axelsson, M.; Mild, M.; Karlsson, A.; Sönnerborg, A.; Thalme, A.; Navér, L.; Bratt, G.; Karlsson, A.; Blaxhult, A.; Gisslén, M.; Svennerholm, B.; Bergbrant, I.; Björkman, Per; Säll, C.; Mellgren, Å.; Lindholm, A.; Kuylenstierna, N.; Montelius, R.; Azimi, F.; Johansson, B.; Carlsson, M.; Johansson, E.; Ljungberg, B.; Ekvall, H.; Strand, A.; Mäkitalo, S.; Öberg, S.; Holmblad, P.; Höfer, M.; Holmberg, H.; Josefson, P.; Ryding, U.; De Los Santos, I. (2016)
      Background. Numerous studies have shown that baseline drug resistance patterns may influence the outcome of antiretroviral therapy. Therefore, guidelines recommend drug resistance testing to guide the choice of initial ...