Browsing by Author "Pierides, Alkis M."
Now showing items 1-20 of 56
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Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity
Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)Autosomal dominant medullary cystic kidney disease (ADMCKD
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Autosomal dominant polycystic kidney disease - Type 2. Ultrasound, genetic and clinical correlations
Demetriou, Kyproula; Tziakouri, Chrysa H.; Anninou, Kristiana; Eleftheriou, Andri; Koptides, Michael; Nicolaou, Alexia; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M. (2000)Background. Ultrasound, genetic and clinical correlations are available for ADPKD-1, but lacking for ADPKD-2. The present study was carried out to address: (i) the age-related diagnostic usefulness of ultrasound compared ...
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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, ...
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C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in cyprus: Clinical and molecular findings in 21 families
Constantinou-Deltas, Constantinos D.; Gale, D.; Cook, T.; Voskarides, Konstantinos; Athanasiou, Yiannis; Pierides, Alkis M. (2013)Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well ...
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Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life
Constantinou-Deltas, Constantinos D.; Savva, Isavella; Voskarides, Konstantinos; Papazachariou, Louiza; Pierides, Alkis M. (2015)Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the ...
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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, ...
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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
Peters, D. J. M.; Spruit, L.; Saris, J. J.; Ravine, D.; Sandkuijl, L. A.; Fossdal, R.; Boersma, J.; van Eijk, R.; Nørby, S.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Briessenden, J. E.; Frants, R. R.; van Ommen, G. -J B.; Breuning, M. H. (1993)Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European ...
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Clinical aspects of cystinuria
Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)
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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 ...
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Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure
Stefanou, Charalambos; Pieri, Myrtani; Savva, Isavella; Georgiou, Georgios C.; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2015)BACKGROUND/AIMS: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement ...
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COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century
Voskarides, Konstantinos; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently ...
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COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis
Constantinou-Deltas, Constantinos D.; Pierides, Alkis M. (2015)
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COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. Glomerular epithelium destruction via basement membrane thinning?
Voskarides, Konstantinos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal glomerular ...
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COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
Voskarides, Konstantinos; Damianou, Loukas; Neocleous, Vassos; Zouvani, Ioanna; Christodoulidou, Stalo; Hadjiconstantinou, Valsamakis E.; Ioannou, Kyriakos; Athanasiou, Yiannis; Patsias, Charalambos; Alexopoulos, Efstathios; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Constantinou-Deltas, Constantinos D. (2007)Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria ...
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Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
Neophytou, Pavlos; Constantinides, Rolandos; Lazarou, Akis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1996)Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...
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Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes
Voskarides, Konstantinos; Demosthenous, Panayiota; Papazachariou, Louiza; Arsali, Maria; Athanasiou, Yiannis; Zavros, Michalis; Stylianou, Konstantinos G.; Xydakis, D.; Daphnis, Eugenios K.; Gale, D. P.; Maxwell, P. H.; Elia, Avraam; Pattaro, C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...
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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 ...
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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 ...
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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 ...
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Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
Constantinou-Deltas, Constantinos D.; Mean, R.; Rossou, Elena; Costi, Constantina Eleni; Koupepidou, P.; Hadjiyanni, I.; Koptides, Michael; Hadjiroussos, V.; Petrou, P.; Pierides, Alkis M.; Lamnissou, Klea; Koptides, M. (2002)Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. ...