Browsing by Subject "amino acid substitution"

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

Browsing by Subject "amino acid substitution"

Authors' reply ﻿

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

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

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

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 ﻿

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

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

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

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

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients ﻿

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

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

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) ﻿

Primary resistance to integrase strand-transfer inhibitors in Europe ﻿

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 ﻿

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 ﻿

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

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 ﻿

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 ﻿

Authors' reply

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

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

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

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

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

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

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

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

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

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

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

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)

Primary resistance to integrase strand-transfer inhibitors in Europe

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

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

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

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

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