Browsing by Author "Patsias, Charalambos"
Now showing items 1-9 of 9
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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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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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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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Article
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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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 ...
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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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Article
X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5
Demosthenous, Panayiota; Voskarides, Konstantinos; Stylianou, Konstantinos G.; Hadjigavriel, Michalis; Arsali, Maria; Patsias, Charalambos; Georgaki, Eleni; Zirogiannis, P.; Stavrou, Christoforos V.; Daphnis, Eugenios K.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension ...