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Browsing by Subject "Genetic Predisposition to Disease"

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    • Article  

      Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report 

      Eckardt, K. -U; Alper, S. L.; Antignac, C.; Bleyer, A. J.; Chauveau, D.; Dahan, K.; Constantinou-Deltas, Constantinos D.; Hosking, A.; Kmoch, S.; Rampoldi, L.; Wiesener, M.; Wolf, M. T.; Devuyst, O. (2015)
      Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...

    • Article  

      Deficiencies in the Fanconi Anemia DNA damage response pathway increase sensitivity to HPV-associated head and neck cancer 

      Park, J. W.; Pitot, H. C.; Strati, K.; Spardy, N.; Duensing, S.; Grompe, M.; Lambert, P. F. (2010)
      Patients with the rare genetic disease, Fanconi anemia (FA), are highly susceptible to squamous cell carcinomas arising at multiple anatomic sites including the head and neck region. Human papillomaviruses (HPVs), particularly ...

    • Article  

      Discovery of old diseases: The molecular approach [1] 

      Constantinou-Deltas, Constantinos D. (2003)

    • 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  

      Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria 

      Voskarides, Konstantinos; Arsali, Maria; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)
      Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 ...

    • 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  

      A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population 

      Voskarides, Konstantinos; Stefanou, Charalambos; Pieri, Myrtani; Demosthenous, Panayiota; Felekkis, Kyriacos N.; Arsali, Maria; Athanasiou, Yiannis; Xydakis, D.; Stylianou, Konstantinos G.; Daphnis, Eugenios K.; Goulielmos, George N.; Loizou, P.; Savige, J.; Höhne, M.; Völker, L. A.; Benzing, T.; Maxwell, P. H.; Gale, D. P.; Gorski, M.; Böger, C.; Kollerits, B.; Kronenberg, F.; Paulweber, B.; Zavros, Michalis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2017)
      Background Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a ...

    • 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  

      Involvement of skeletal muscle gene regulatory network in susceptibility to wound infection following trauma 

      Apidianakis, Yiorgos; Mindrinos, M. N.; Xiao, W.; Tegos, G. P.; Papisov, M. I.; Hamblin, M. R.; Davis, R. W.; Tompkins, R. G.; Rahme, L. G. (2007)
      Despite recent advances in our understanding the pathophysiology of trauma, the basis of the predisposition of trauma patients to infection remains unclear. A Drosophila melanogaster/Pseudomonas aeruginosa injury and ...

    • Article  

      The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure 

      Koupepidou, P.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Athanasiou, Yiannis; Zouvani, Ioanna; Pierides, Alkis M. (2005)
      Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...

    • Article  

      The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failureAAA 

      Koupepidou, P.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Athanasiou, Yiannis; Zouvani, Ioanna; Pierides, Alkis M. (2005)
      Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...

    • 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  

      Synergy between bacterial infection and genetic predisposition in intestinal dysplasia 

      Apidianakis, Yiorgos; Pitsouli, Chrysoula; Perrimon, N.; Rahme, L. (2009)
      Accumulating evidence suggests that hyperproliferating intestinal stem cells (SCs) and progenitors drive cancer initiation, maintenance, and metastasis. In addition, chronic inflammation and infection have been increasingly ...

    • Article  

      Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease? 

      Constantinou-Deltas, Constantinos D. (2009)

    • Article  

      Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 

      Bleyer, A. J.; Kmoch, S.; Antignac, C.; Robins, V.; Kidd, K.; Kelsoe, J. R.; Hladik, G.; Klemmer, P.; Knohl, S. J.; Scheinman, S. J.; Vo, N.; Santi, A.; Harris, A.; Canaday, O.; Weller, N.; Hulick, P. J.; Vogel, K.; Rahbari-Oskoui, F. F.; Tuazon, J.; Constantinou-Deltas, Constantinos D.; Somers, D.; Megarbane, A.; Kimmel, P. L.; Sperati, C. J.; Orr-Urtreger, A.; Ben-Shachar, S.; Waugh, D. A.; Mcginn, S.; Bleyer Jr., A. J.; Hodaňová, K.; Vyletal, P.; Živná, M.; Hart, T. C.; Hart, P. S. (2014)
      Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a ...

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