Browsing by Author "Pierides, Alkis M."
Now showing items 21-40 of 56
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A family with the branchio-oto-renal syndrome: Clinical and genetic correlations
Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...
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Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis
Elia, Avraam; Voskarides, Konstantinos; Demosthenous, Panayiota; Michalopoulou, A.; Malliarou, M. -A; Georgaki, Eleni; Athanasiou, Yiannis; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...
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Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing
Papazachariou, Louiza; Demosthenous, Panayiota; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2014)Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
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Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing
Papazachariou, Louiza; Demosthenous, Panayiota M.; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos A.; Constantinou-Deltas, Constantinos D. (2014)Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
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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 ...
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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 ...
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Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Breuning, M. H.; Peters, D. J. M.; Pierides, Alkis M. (1995)Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with ...
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Genetic variation of DKK3 may modify renal disease severity in ADPKD
Liu, M.; Shi, S.; Senthilnathan, S.; Yu, J.; Wu, E.; Bergmann, C.; Zerres, K.; Bogdanova, N.; Coto, E.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Demetriou, Kyproula; Devuyst, O.; Gitomer, B.; Laakso, M.; Lumiaho, A.; Lamnissou, Klea; Magistroni, R.; Parfrey, P.; Breuning, M.; Peters, D. J. M.; Torra, R.; Winearls, C. G.; Torres, V. E.; Harris, Peter C.; Paterson, A. D.; Pei, Y. (2010)Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations ...
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Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease
Magistroni, R.; He, N.; Wang, K.; Andrew, R.; Johnson, A.; Gabow, P.; Dicks, E.; Parfrey, P.; Torra, R.; San-Millan, J. L.; Coto, E.; Van Dijk, M.; Breuning, M.; Peters, D.; Bogdanova, N.; Ligabue, G.; Albertazzi, A.; Hateboer, N.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; St. George-Hyslop, P.; Ravine, D.; Pei, Y. (2003)Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...
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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 ...
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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
Gale, D. P.; De Jorge, E. G.; Cook, H. T.; Martinez-Barricarte, R.; Hadjisavvas, Andreas; McLean, A. G.; Pusey, C. D.; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Athanasiou, Yiannis; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D.; Palmer, A.; De Cordoba, S. R.; Maxwell, P. H.; Pickering, M. C.; Frémeaux-Bacchi, V. (2010)Summary Background Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish the genetic basis for a ...
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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
Koptides, Michael; Constantinides, Rolandos; Kyriakides, George K.; Hadjigavriel, Michalis; Patsalis, Philippos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with ...
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Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1
Stavrou, Christoforos V.; Pierides, Alkis M.; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Antignac, C.; Neophytou, Pavlos; Christodoulou, Kyproula; Constantinou-Deltas, Constantinos D. (1998)We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people ...
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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 ...
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Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining
Mean, R. J.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; Koptides, Michael (2004)
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Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population
Athanasiou, Yiannis; Voskarides, Konstantinos; Chatzikyriakidou, Anthoula L.; Ignatiou, Anastasia; Demosthenous, Panayiota; Elia, Avraam; Zavros, Michalis; Georgiou, Ioannis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2015)Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...
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Molecular genetics of familial hematuric diseases
Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Voskarides, Konstantinos (2013)The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 ...
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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 ...
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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 ...
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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 ...