Browsing by Subject "genetic polymorphism"

Article

Analysis of published PKD1 gene sequence variants [3]

Gout, A. M.; Ravine, D.; Harris, Peter C.; Rossetti, S.; Peters, D.; Breuning, M.; Henske, E. P.; Koizumi, A.; Inoue, S.; Shimizu, Y.; Thongnoppakhun, W.; Yenchitsomanus, P. -T; Constantinou-Deltas, Constantinos D.; Sandford, R.; Torra, R.; Turco, A. E.; Jeffery, S.; Fontes, M.; Somlo, Stefan; Furu, L. M.; Smulders, Y. M.; Mercier, B.; Ferec, C.; Burtey, S.; Pei, Y.; Kalaydjieva, L.; Bogdanova, N.; McCluskey, M.; Geon, L. J.; Wouters, C. H.; Reiterova, J.; Stekrová, J.; San Millan, J. L.; Aguiari, G.; Senno, L. D. (2007)

Article

CCR5 promoter polymorphisms in a Kenyan perinatal human immunodeficiency virus type 1 cohort: Association with increased 2-year maternal mortality

John, G. C.; Bird, T.; Overbaugh, J.; Nduati, R.; Mbori-Ngacha, D.; Rostron, T.; Dong, T.; Kostrikis, Leontios G.; Richardson, B.; Rowland-Jones, S. L. (2001)

The CCR5 chemokine receptor acts as a coreceptor with CD4 to permit infection by primary macrophage-tropic human immunodeficiency virus type 1 (HIV-1) strains. The CCR5Δ32 mutation, which is associated with resistance to ...

Article

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD)

Christodoulou, Kyproula; Tsingis, Marios; Stavrou, Christoforos V.; Eleftheriou, Andri; Papapavlou, Petros; Patsalis, Philippos C.; Ioannou, Panayiotis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)

There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...

Article

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met

Dardiotis, Efthymios; Koutsou, Pantelitsa; Zamba-Papanicolaou, Eleni; Vonta, Filia; Hadjivassiliou, Marilena; Hadjigeorgiou, Georgios M.; Cariolou, Marios A.; Christodoulou, Kyproula; Kyriakides, Theodoros (2009)

Background: Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin ...

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

Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus

Lamnissou, Klea; Zirogiannis, P.; Trygonis, S.; Demetriou, Kyproula; Pierides, Alkis M.; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2004)

Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to ...

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

Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population

Hadjipanagi, Despina; Chrysanthou, S.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2014)

Background: Two variants in the gene encoding the cytochrome P450 2C9 enzyme (CYP2C9) are considered the most significant genetic risk factors associated with bleeding after warfarin prescription. A variant in the vitamin ...

Article

The impact of human allelic variation on HIV-1 disease.

Anastassopoulou, C. G.; Kostrikis, Leontios G. (2003)

Human allelic variants influence the susceptibility to HIV-1 infection and/or the subsequent rates of disease progression towards AIDS that average ten years, although they vary greatly among infected subjects. In this ...

Article

Impact of natural chemokine receptor polymorphisms on perinatal transmission of human immunodeficiency virus type 1

Kostrikis, Leontios G. (2000)

Article

Lack of association between endothelial nitric oxide synthase gene polymorphisms and risk of premature coronary artery disease in the Greek population

Vasilakou, M.; Votteas, V.; Kasparian, C.; Pantazopoulos, N.; Dedoussis, George V. Z.; Constantinou-Deltas, Constantinos D.; Nastos, P.; Nikolakis, D.; Lamnissou, Klea (2008)

Objective - Genetic polymorphisms in the gene for endothelial nitric oxide synthase have been considered as potential risk factors for the development of coronary artery disease in some populations. Methods - We studied ...

Article

MicroRNAs: A newly described class of encoded molecules that play a role in health and disease

Felekkis, Kyriacos N.; Touvana, Evi; Stefanou, Charalambos; Constantinou-Deltas, Constantinos D. (2010)

14(4): 236-240.

Article

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy

Papagregoriou, Gregory N.; Erguler, K.; Dweep, H.; Voskarides, Konstantinos; Koupepidou, P.; Athanasiou, Yiannis; Pierides, Alkis M.; Gretz, N.; Felekkis, Kyriacos N.; Constantinou-Deltas, Constantinos D. (2012)

Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3′UTR of HBEGF were predicted using miRWalk algorithm and ...

Article

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Feldman, M.; Prikis, Marios; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2006)

The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...

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

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)

Article

A polymorphism in the regulatory region of the CC-chemokine receptor 5 gene influences perinatal transmission of human immunodeficiency virus type 1 to African-American infants

Deutsch, L.; Kostrikis, Leontios G.; Neumann, A. U.; Thomson, B.; Korber, B. T.; McHardy, P.; Karanicolas, R.; Huang, Y.; Lew, J. F.; McIntosh, K.; Pollack, H.; Borkowsky, W.; Spiegel, H. M. L.; Palumbo, P.; Oleske, J.; Bardeguez, A.; Luzuriaga, K.; Sullivan, J.; Wolinsky, S. M.; Koup, R. A.; Ho, David D.; Moore, J. P. (1999)

There are natural mutations in the coding and noncoding regions of the human immunodeficiency virus type (HIV-1) CC-chemokine coreceptor 5 (CCR5) and in the related CCR2 protein (the CCR2-64I mutation). Individuals homozygous ...

Article

Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus

Cariolou, Marios A.; Kokkofitou, Avgousta; Manoli, Panayiotis; Christou, Soteroulla; Karagrigoriou, Alex; Middleton, Lefkos T. (1995)

Apolipoprotein E (APOE) plays an important role in the multifactorial etiology of both cardiovascular disease and Alzheimer's disease. Polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in ...