Browsing by Subject "Genetic Predisposition to Disease"

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 ...