Browsing by Subject "phenotype"

Article

1,2,3-Dithiazoles-new reversible melanin synthesis inhibitors: A chemical genomics study

Charalambous, Anna; Koyioni, Maria; Antoniades, Ioanna; Pegeioti, Despoina; Eleftheriou, Iro; Michaelidou, Sophia S.; Amelichev, Stanislav A.; Konstantinova, L. S.; Rakitin, O. A.; Koutentis, Panayiotis Andreas; Skourides, Paris A. (2015)

A chemical genomic screen of an in-house library of small molecule heterocycles was carried out using Xenopus laevis embryos. This led to the identification of N-(4-chloro-5H-1,2,3-dithiazol-5-ylidene)-4-methoxyaniline ...

Article

Addressing the Functional Determinants of FAK during Ciliogenesis in Multiciliated Cells

Antoniades, Ioanna; Stylianou, Panayiota; Christodoulou, Neophytos; Skourides, Paris A. (2017)

We previously identified focal adhesion kinase (FAK) as an important regulator of ciliogenesis in multiciliated cells. FAK and other focal adhesion (FA) proteins associate with the basal bodies and their striated rootlets ...

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

Character displacement of song and morphology in African tinkerbirds

Kirschel, A. N. G.; Blumstein, Daniel T.; Smith, T. B. (2009)

Divergence in acoustic signals between populations of animals can lead to species recognition failure, reproductive isolation, and speciation. Character displacement may facilitate coexistence of species in natural ...

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

A computationally fast measure of epistasis for 2 SNPs and a categorical phenotype.

Antoniades, Athos; Matthews, P. M.; Pattichis, Constantinos S.; Galwey, N. W. (2010)

Complex diseases may be caused by interactions or combined effects between multiple genetic and environmental factors. One of the main limitations of testing for interaction between genetic loci in large whole genome studies ...

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 ...

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

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

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 ...

Article

A dominant-negative provides new insights into FAK regulation and function in early embryonic morphogenesis

Petridou, Nicoletta I.; Stylianou, Panayiota; Skourides, Paris A. (2013)

FAK is a non-receptor tyrosine kinase involved in a wide variety of biological processes and crucial for embryonic development. In this manuscript, we report the generation of a new FAK dominant negative (FF), composed of ...

Article

Ectopic expression of individual E(spl) genes has differential effects on different cell fate decisions and underscores the biphasic requirement for Notch activity in wing margin establishment in Drosophila

Ligoxygakis, P.; Bray, S. J.; Apidianakis, Yiorgos; Delidakis, Christos (1999)

A common consequence of Notch signalling in Drosophila is the transcriptional activation of seven Enhancer of split [E(spl)] genes, which encode a family of closely related basic-helix-loop-helix transcriptional repressors. ...

Article

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 ...

Article

Ets2 is necessary in trophoblast for normal embryonic anteroposterior axis development

Georgiades, Pantelis; Rossant, J. (2006)

Although the trophoblast is necessary for the growth, viability and patterning of the mammalian embryo, understanding of its patterning role is still rudimentary. Expression of the transcription factor Ets2 is restricted ...

Article

Evidence for activation of the unfolded protein response in collagen iv nephropathies

Pieri, Myrtani; Stefanou, Charalambos; Zaravinos, Apostolos; Erguler, K.; Stylianou, Konstantinos G.; Lapathitis, Georgios; Karaiskos, Christos; Savva, Isavella; Paraskeva, Revekka; Dweep, H.; Sticht, C.; Anastasiadou, Natassa; Zouvani, Ioanna; Goumenos, Dimitrios S.; Felekkis, Kyriacos N.; Saleem, M.; Voskarides, Konstantinos; Gretz, N.; Constantinou-Deltas, Constantinos D. (2014)

Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and ...

Article

Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation

Gao, F.; Vidal, N.; Li, Y.; Trask, S. A.; Chen, Y.; Kostrikis, Leontios G.; Ho, David D.; Kim, J.; Oh, M. -D; Choe, K.; Salminen, M.; Robertson, D. L.; Shaw, G. M.; Hahn, B. H.; Peeters, M. (2001)

Members of HIV-1 group M are responsible for the vast majority of AIDS cases worldwide and have been classified on the basis of their phylogenetic relationships into nine roughly equidistant clades, termed subtypes. Although ...

Article

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 ...

Article

Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes

Markstein, M.; Pitsouli, Chrysoula; Villalta, C.; Celniker, S. E.; Perrimon, N. (2008)

A major obstacle to creating precisely expressed transgenes lies in the epigenetic effects of the host chromatin that surrounds them. Here we present a strategy to overcome this problem, employing a Gal4-inducible luciferase ...