Browsing by Subject "Heterozygote"

Article

Association of ERCC1 SNPs with outcome in platinum-treated patients with advanced urothelial cancer: A Hellenic Cooperative Oncology Group study

Nikitas, N.; Karadimou, A.; Tsitoura, E.; Soupos, N.; Tsiatas, M.; Karavasilis, V.; Pectasides, Dimitrios; Pavlidis, Nicholas; Chrisofos, M.; Adamakis, I.; Murray, S.; Fountzilas, George; Dimopoulos, M. A.; Bamias, A. T. (2012)

Aim: The association between two polymorphisms of ERCC1 and treatment outcomes after platinum-based chemotherapy in patients with advanced urothelial cancer (UC) was examined. Materials & methods: Genotyping of 19007C>T ...

Article

Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot familiesAAA

Stavrou, Christoforos V.; Koptides, Michael; Tombazos, C.; Psara, E.; Patsias, Charalambos; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Hildebrandt, F.; Christofides, Tasos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2002)

Background. Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, ...

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

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

Discovery of old diseases: The molecular approach [1]

Constantinou-Deltas, Constantinos D. (2003)

Article

Evidence for activation of the unfolded protein response in collagen iv nephropathies

Pieri, Myrtani; Stefanou, Charalambos; Zaravinos, Apostolos; Erguler, K.; Stylianou, Konstantinos G.; Lapathitis, Georgios; Karaiskos, Christos; Savva, Isavella; Paraskeva, Revekka; Dweep, H.; Sticht, C.; Anastasiadou, Natassa; Zouvani, Ioanna; Goumenos, Dimitrios S.; Felekkis, Kyriacos N.; Saleem, M.; Voskarides, Konstantinos; Gretz, N.; Constantinou-Deltas, Constantinos D. (2014)

Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and ...

Article

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease

Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)

Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...

Article

Impact of ACE and ApoE polymorphisms on myocardial perfusion: Correlation with myocardial single photon emission computed tomographic imaging

Georgoulias, Panagiotis; Wozniak, Greta; Samara, Maria; Chiotoglou, Ioanna; Kontos, Angelos; Tzavara, Chara; Valotassiou, Varvara; Georgitsi, Marianna; Aleporou-Marinou, Vassiliki; Patrinos, George P.; Kollia, Panagoula (2009)

Coronary artery disease is associated with multiple genetic and environmental risk factors. In this study, we evaluated the correlation of angiotensin l-converting enzyme (ACE) (I/D) and ApoE gene polymorphisms (E2, E3, ...

Article

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

Kostrikis, Leontios G. (2000)

Article

Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population

Angelopoulou, Katerina; Nicolaïdes, Andrew N.; Constantinou-Deltas, Constantinos D. (2000)

Several hereditary disorders, particularly those affecting the physiological anticoagulation systems, have been well established as risk factors for venous thromboembolism. In the present study, we investigated the prevalence ...

Article

Spectral genotyping of human alleles

Kostrikis, Leontios G.; Tyagi, S.; Mhlanga, M. M.; Ho, David D.; Kramer, F. R. (1998)