Browsing by Author "Pierides, Alkis M."
Now showing items 41-56 of 56
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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles
Constantinides, Rolandos; Xenophontos, Stavroulla L.; Neophytou, Pavlos; Nomura, Shinsuke; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...
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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1
Koptides, Michael; Mean, R.; Stavrou, Christoforos V.; Pierides, Alkis M.; Demetriou, Kyproula; Nakayama, T.; Hildebrandt, F.; Fuchshuber, A.; Constantinou-Deltas, Constantinos D. (2001)Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families
Bouba, I.; Koptides, Michael; Mean, R.; Costi, Constantina Eleni; Demetriou, Kyproula; Georgiou, Ioannis A.; Pierides, Alkis M.; Siamopoulos, K.; Constantinou-Deltas, Constantinos D. (2001)The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...
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NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)
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On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'
Voskarides, Konstantinos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)
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Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1
Stavrou, Christoforos V.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Pierides, Alkis M. (2003)Background. Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single ...
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PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
Mochizuki, Toshio; Wu, G.; Hayashi, Tomohito; Xenophontos, Stavroulla L.; Veldhuisen, B.; Saris, J. J.; Reynolds, D. M.; Cai, Y.; Gabow, P. A.; Pierides, Alkis M.; Kimberling, W. J.; Breuning, M. H.; Constantinou-Deltas, Constantinos D.; Peters, D. J. M.; Somlo, Stefan (1996)A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...
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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
Constantinou-Deltas, Constantinos D.; Christodoulou, Kyproula; Tjakouri, C.; Pierides, Alkis M. (1996)Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...
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RAAS inhibition and the course of Alport syndrome
Savva, Isavella; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2016)Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder ...
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The role of molecular genetics in diagnosing familial hematuria(s)
Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Voskarides, Konstantinos (2012)Familial microscopic hematuria (MH) of glomer-ular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and ...
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Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
Koptides, Michael; Mean, R.; Demetriou, Kyproula; Constantinides, Rolandos; Pierides, Alkis M.; Harris, Peter C.; Constantinou-Deltas, Constantinos D. (2000)Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1
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A Simplified Method for Measuring the Thickness of Glomerular Basement Membranes
Marquez, B.; Zouvani, Ioanna; Karagrigoriou, Alex; Anastasiades, E.; Pierides, Alkis M.; Kyriacou, Kyriacos C. (2003)Measurement of the thickness of glomerular basement membranes is required for the diagnosis of thin membrane nephropathy. Over the years various morphometric methods have been used but some are laborious so there is a need ...
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A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2)
Xenophontos, Stavroulla L.; Constantinides, Rolandos; Hayashi, Tomohito; Mochizuki, Toshio; Somlo, Stefan; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...
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Weak evidence for allelic association in the cypriot PKD1 population.
Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Pierides, Alkis M. (1995)
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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 ...
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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure
Pierides, Alkis M.; Voskarides, Konstantinos; Kkolou, Maria; Hadjigavriel, Michalis; Constantinou-Deltas, Constantinos D. (2013)Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as ...