Browsing by Author "Constantinou-Deltas, Constantinos D."
Now showing items 21-40 of 135
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Article
CNVs-microRNAs interactions demonstrate unique characteristics in the human genome. An interspecies in silico analysis
Dweep, H.; Georgiou, G. D.; Gretz, N.; Constantinou-Deltas, Constantinos D.; Voskarides, Konstantinos; Felekkis, Kyriacos N. (2013)MicroRNAs (miRNAs) and copy number variations (CNVs) represent two classes of newly discovered genomic elements that were shown to contribute to genome plasticity and evolution. Recent studies demonstrated that miRNAs and ...
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Article
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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Article
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 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis
Constantinou-Deltas, Constantinos D.; Pierides, Alkis M. (2015)
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Article
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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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
Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
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Article
Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)
Mizzi, C.; Dalabira, E.; Kumuthini, J.; Dzimiri, N.; Balogh, István; Başak, N.; Böhm, R.; Borg, J.; Borgiani, P.; Bozina, N.; Bruckmueller, B.; Burzynska, B.; Carracedo, A.; Cascorbi, I.; Constantinou-Deltas, Constantinos D.; Dolzan, V.; Fenech, A.; Grech, G.; Kasiulevicius, V.; Kádaši, D.; Kučinskas, V.; Khusnutdinova, E.; Loukas, Y. L.; Macek, M., Jr.; Makukh, H.; Mathijssen, R.; Mitropoulos, K.; Mitropoulou, C.; Novelli, G.; Papantoni, I.; Pavlovic, S.; Saglio, G.; Setric, J.; Stojiljkovic, M.; Stubbs, A. P.; Squassina, A.; Torres, M.; Turnovec, M.; van Schaik, R. H.; Voskarides, Konstantinos; Wakil, S. M.; Werk, A.; del Zompo, M.; Zukic, B.; Katsila, T.; Ta Michael Lee, M.; Motsinger-Rief, A.; Mc Leod, H. L.; van der Spek, P. J.; Patrinos, G. P. (2017)The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić. © 2017 Mizzi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which ...
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Article
The cypriot and Iranian National Mutation Frequency Databases.
Kleanthous, Marios; Patsalis, Philippos C.; Drousiotou, Anthi; Motazacker, M.; Christodoulou, Kyproula; Cariolou, Marios A.; Baysal, E.; Khrizi, K.; Moghimi, B.; Pourfarzad, F.; van Baal, S.; Constantinou-Deltas, Constantinos D.; Najmabadi, H.; Patrinos, G. P. (2006)The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
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Article
Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways
Koupepidou, P.; Felekkis, Kyriacos N.; Kränzlin, B.; Sticht, C.; Gretz, N.; Constantinou-Deltas, Constantinos D. (2010)Background: Polycystic Kidney Disease is characterized by the formation of large fluid-filled cysts that eventually destroy the renal parenchyma leading to end-stage renal failure. Although remarkable progress has been ...
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Article
Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways (BMC Nephrology)
Koupepidou, P.; Felekkis, Kyriacos N.; Kränzlin, B.; Sticht, C.; Gretz, N.; Constantinou-Deltas, Constantinos D. (2011)
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Article
Cystic diseases of the kidney molecular biology and genetics
Constantinou-Deltas, Constantinos D. (2010)Context.-Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing Xlinked, autosomal dominant, and autosomal recessive inheritance. ...
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Article
Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom [3]
Yiallouros, P. K.; Neocleous, Vassos; Zeniou, M.; Adamidou, Despoina; Costi, Constantina Eleni; Christophi, C.; Tzetis, M.; Kanavakis, E.; Constantinou-Deltas, Constantinos D. (2007)
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Article
Cystic fibrosis patients from the black sea region: The 1677delTA mutation
Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...
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Article
Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology
Patsalis, Philippos C.; Sismani, Carolina; Hadjimarcou, Michael I.; Rose, Nancy C.; Stylianidou, Goula; Koukoulli, R.; Anastasiadou, Violetta C.; Constantinou-Deltas, Constantinos D.; Middleton, Lefkos T. (1997)The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, ...
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Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual
Constantinou-Deltas, Constantinos D.; Boteva, Kalina; Georgiou, A.; Papageorgiou, Elena; Georgiou, Christina (1996)During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We have ...
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Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation
Neocleous, Vassos; Passalaris, T.; Spanou, E.; Kitsios, P.; Skordis, Nicos A.; Constantinou-Deltas, Constantinos D. (2004)Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The ...
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Article
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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Article
Discovery of old diseases: The molecular approach [1]
Constantinou-Deltas, Constantinos D. (2003)
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Book
Diseases of renal parenchyma
Sahay, Manisha; Constantinou-Deltas, Constantinos D. (Intech, 2012)