Browsing by Subject "Mutation"

Article

The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations

Constantinou-Deltas, Constantinos D.; VOGEL, B. E.; JEFFREY, J. J.; PROCKOP, D. J. (1987)

Previous studies demonstrated that the thermal stability of the procollagen triple helix can be assayed by digesting the protein for short periods with high concentrations of trypsin and chymotrypsin. Here we cleaved human ...

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

A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation

Deutsch, L.; Kostrikis, Leontios G.; Huang, Y.; Moore, J. P.; Wolinsky, S. M.; Zhang, L.; Guo, Y.; Phair, J.; Neumann, A. U.; Ho, David D. (1998)

Viral and host factors influence the rate of HIV-1 disease progression. For HIV-1 to fuse, a CD4+ cell must express a co-receptor that the virus can use. The chemokine receptors CCR5 and CXCR4 are used by R5 and X4 viruses, ...

Article

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3 COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

Pierides, Alkis M.; Voskarides, Konstantinos; Athanasiou, Yiannis; Ioannou, Kyriakos; Damianou, Loukas; Arsali, Maria; Zavros, Michalis; Pierides, M.; Vargemezis, V.; Patsias, Charalambos; Zouvani, Ioanna; Elia, Avraam; Kyriacou, Kyriacos C.; Constantinou-Deltas, Constantinos D. (2009)

Background. Heterozygous mutations in the COL4A3 COL4A4 genes are currently thought to be responsible for familial benign microscopic haematuria and maintenance of normal long-term kidney function.Methods. We report on 11 ...

Article

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century

Voskarides, Konstantinos; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)

Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently ...

Article

COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. Glomerular epithelium destruction via basement membrane thinning?

Voskarides, Konstantinos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)

The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal glomerular ...

Article

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

Voskarides, Konstantinos; Damianou, Loukas; Neocleous, Vassos; Zouvani, Ioanna; Christodoulidou, Stalo; Hadjiconstantinou, Valsamakis E.; Ioannou, Kyriakos; Athanasiou, Yiannis; Patsias, Charalambos; Alexopoulos, Efstathios; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Constantinou-Deltas, Constantinos D. (2007)

Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria ...

Article

Continuum treatment of long-range interactions in free energy calculations. Application to protein-ligand binding

Simonson, T.; Archontis, Georgios Z.; Karplus, M. (1997)

A method is proposed to include long-range electrostatic interactions in free energy calculations that involve the creation or deletion of net charges in a macromolecule. The vicinity of the mutation site is treated ...

Article

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom [3]

Yiallouros, P. K.; Neocleous, Vassos; Zeniou, M.; Adamidou, Despoina; Costi, Constantina Eleni; Christophi, C.; Tzetis, M.; Kanavakis, E.; Constantinou-Deltas, Constantinos D. (2007)

Article

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)

A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...

Article

Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual

Constantinou-Deltas, Constantinos D.; Boteva, Kalina; Georgiou, A.; Papageorgiou, Elena; Georgiou, Christina (1996)

During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We have ...

Article

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Neophytou, Pavlos; Constantinides, Rolandos; Lazarou, Akis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1996)

Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...

Article

Discovery of old diseases: The molecular approach [1]

Constantinou-Deltas, Constantinos D. (2003)

Article

Emergence of drug-resistant HIV-1 variants in patients undergoing structured treatment interruptions

Schweighardt, B.; Ortiz, G. M.; Grant, R. M.; Wellons, M.; Miralles, G. D.; Kostrikis, Leontios G.; Bartlett, J. A.; Nixon, D. F. (2002)

We report the emergence of drug-resistant viral mutations in chronically HIV-infected individuals undergoing structured treatment interruptions (STI). The protease mutation M46L and the reverse transcriptase mutations K101E ...

Article

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

Sharp, N. J. H.; Kornegay, J. N.; Van Camp, S. D.; Herbstreith, M. H.; Secore, S. L.; Kettle, S.; Hung, W. -Y; Constantinou-Deltas, Constantinos D.; Dykstra, M. J.; Roses, A. D.; Bartlett, R. J. (1992)

Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions ...

Article

Ets2 is necessary in trophoblast for normal embryonic anteroposterior axis development

Georgiades, Pantelis; Rossant, J. (2006)

Although the trophoblast is necessary for the growth, viability and patterning of the mammalian embryo, understanding of its patterning role is still rudimentary. Expression of the transcription factor Ets2 is restricted ...

Article

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

Athanasiou, Yiannis; Voskarides, Konstantinos; Gale, D. P.; Damianou, Loukas; Patsias, Charalambos; Zavros, Michalis; Maxwell, P. H.; Cook, H. T.; Demosthenous, Panayiota; Hadjisavvas, Andreas; Kyriacou, Kyriacos C.; Zouvani, Ioanna; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)

Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...

Article

Free energy simulations: The meaning of the individual contributions from a component analysis

Boresch, S.; Archontis, Georgios Z.; Karplus, M. (1994)

A theoretical analysis is made of the decomposition into contributions from individual interactions of the free energy calculated by thermodynamic integration. It is demonstrated that such a decomposition, often referred ...

Article

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

Koptides, Michael; Hadjimichael, C.; Koupepidou, P.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1999)

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for ~85% of cases whereas PKD2 on chromosome 4 accounts for ~15%. Mutations in the PKD3 gene ...

Article

Global distribution of the CCR2-641/CCR5-59653T HIV-1 disease-protective haplotype

Martinson, J. J.; Hong, L.; Karanicolas, R.; Moore, J. P.; Kostrikis, Leontios G. (2000)

Objectives: Several natural polymorphisms in the genes for the human CC-chemokine receptors CCR5 and CCR2 are associated with HIV-1 disease. The CCR2-641 genetic variant [a G to A substitution resulting in a valine (V) to ...