Browsing by Subject "gene mutation"

Article

Analysis of published PKD1 gene sequence variants [3]

Gout, A. M.; Ravine, D.; Harris, Peter C.; Rossetti, S.; Peters, D.; Breuning, M.; Henske, E. P.; Koizumi, A.; Inoue, S.; Shimizu, Y.; Thongnoppakhun, W.; Yenchitsomanus, P. -T; Constantinou-Deltas, Constantinos D.; Sandford, R.; Torra, R.; Turco, A. E.; Jeffery, S.; Fontes, M.; Somlo, Stefan; Furu, L. M.; Smulders, Y. M.; Mercier, B.; Ferec, C.; Burtey, S.; Pei, Y.; Kalaydjieva, L.; Bogdanova, N.; McCluskey, M.; Geon, L. J.; Wouters, C. H.; Reiterova, J.; Stekrová, J.; San Millan, J. L.; Aguiari, G.; Senno, L. D. (2007)

Article

Authors' reply

Constantinou-Deltas, Constantinos D.; Voskarides, Konstantinos (2010)

Article

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 ...

Article

Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis

Koptides, Michael; Constantinou-Deltas, Constantinos D. (2000)

Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in the PKD3 gene, which is still ...

Article

Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report

Eckardt, K. -U; Alper, S. L.; Antignac, C.; Bleyer, A. J.; Chauveau, D.; Dahan, K.; Constantinou-Deltas, Constantinos D.; Hosking, A.; Kmoch, S.; Rampoldi, L.; Wiesener, M.; Wolf, M. T.; Devuyst, O. (2015)

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...

Article

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 ...

Article

A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation

Deutsch, L.; Kostrikis, Leontios G.; Huang, Y.; Moore, J. P.; Wolinsky, S. M.; Zhang, L.; Guo, Y.; Phair, J.; Neumann, A. U.; Ho, David D. (1998)

Viral and host factors influence the rate of HIV-1 disease progression. For HIV-1 to fuse, a CD4+ cell must express a co-receptor that the virus can use. The chemokine receptors CCR5 and CXCR4 are used by R5 and X4 viruses, ...

Article

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 ...

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 ...

Article

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

Constantinou-Deltas, Constantinos D.; Pierides, Alkis M. (2015)

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 ...

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 ...

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)

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. ...

Article

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 ...

Article

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 ...

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 ...

Article

Discovery of old diseases: The molecular approach [1]

Constantinou-Deltas, Constantinos D. (2003)

Article

Distinct transcriptional outputs associated with mono- and dimethylated histone H3 arginine 2

Kirmizis, Antonis; Santos-Rosa, H.; Penkett, C. J.; Singer, M. A.; Green, R. D.; Kouzarides, T. (2009)

Dimethylation of histone H3 Arg2 (H3R2me2) maintains transcriptional silencing by inhibiting Set1 mediated trimethylation of H3K4. Here we demonstrate that Arg2 is also monomethylated (H3R2me1) in yeast but that its ...

Article

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

Savige, J.; Ars, E.; Cotton, R. G. H.; Crockett, D.; Dagher, H.; Constantinou-Deltas, Constantinos D.; Ding, J.; Flinter, F.; Pont-Kingdon, G.; Smaoui, N.; Torra, R.; Storey, H. (2014)

X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...