Browsing by Subject "genetics"

Article

A ligand-independent integrin β1 mechanosensory complex guides spindle orientation

Petridou, Nicoletta I.; Skourides, Paris A. (2016)

Control of spindle orientation is a fundamental process for embryonic development, morphogenesis and tissue homeostasis, while defects are associated with tumorigenesis and other diseases. Force sensing is one of the ...

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

Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies

Gross, O.; Perin, L.; Constantinou-Deltas, Constantinos D. (2014)

The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the ...

Article

Architectural insight into inovirus-associated vectors (IAVs) and development of IAV-based vaccines inducing humoral and cellular responses: Implications in HIV-1 vaccines

Hassapis, K. A.; Stylianou, Dora C.; Kostrikis, Leontios G. (2014)

Inovirus-associated vectors (IAVs) are engineered, non-lytic, filamentous bacteriophages that are assembled primarily from thousands of copies of the major coat protein gp8 and just five copies of each of the four minor ...

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

The bacterial metabolite 2-aminoacetophenone promotes association of pathogenic bacteria with flies

Kapsetaki, Stefania Elisavet; Tzelepis, Ilias; Avgousti, Kalodoti; Livadaras, Ioannis; Garantonakis, Nikos G.; Varikou, Kyriaki N.; Apidianakis, Yiorgos (2014)

Bacteria contaminate insects and secrete metabolites that may affect insect behaviour and potentially fitness through unknown mechanisms. Here we show that the 'grape-like' odorant 2-aminoacetophenone (2AA), secreted by ...

Article

Balanced translocations for the analysis of imprinted regions of the mouse genome.

Ferguson-Smith, A. C.; Tevendale, M.; Georgiades, Pantelis; Grandjean, V. (2001)

Experimental studies that investigate the functional and mechanistic properties of an imprinted locus require material in which the two parental chromosome homologs can be easily distinguished. The use of animals with ...

Article

BioTextQuest+: A knowledge integration platform for literature mining and concept discovery

Papanikolaou, Nikolas; Pavlopoulos, Georgios A.; Pafilis, Evangelos; Theodosiou, Theodosios G.; Schneider, R.; Satagopam, V. P.; Ouzounis, Christos A.; Eliopoulos, Aristides G.; Promponas, Vasilis J.; Iliopoulos, Ioannis Crete (2014)

The iterative process of finding relevant information in biomedical literature and performing bioinformatics analyses might result in an endless loop for an inexperienced user, considering the exponential growth of scientific ...

Article

Black cohosh (Cimicifuga racemosa L.) protects against menadione-induced DNA damage through scavenging of reactive oxygen species: Bioassay-directed isolation and characterization of active principles

Burdette, J. E.; Chen, S. -N; Lu, Z. -Z; Xu, H.; White, B. E. P.; Fabricant, D. S.; Liu, J.; Fong, H. H. S.; Farnsworth, N. R.; Constantinou, Andreas I.; Van Breemen, R. B.; Pezzuto, J. M.; Bolton, J. L. (2002)

The roots/rhizomes of Cimicifuga racemosa L. (Nutt.) (black cohosh) have traditionally been used to treat menopausal symptoms through an unknown mechanism of action. In an effort to determine if black cohosh had additional ...

Article

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life

Constantinou-Deltas, Constantinos D.; Savva, Isavella; Voskarides, Konstantinos; Papazachariou, Louiza; Pierides, Alkis M. (2015)

Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the ...

Article

Cellular HIV-1 DNA levels in drug sensitive strains are equivalent to those in drug resistant strains in newly-diagnosed patients in Europe

Demetriou, Victoria L.; van de Vijver, D. A. M. C.; Kousiappa, Ioanna; Balotta, Claudia; Clotet, B.; Grossman, Z.; Jørgensen, L. B.; Lepej, S. Z.; Levy, I.; Nielsen, C.; Paraskevis, Dimitrios N.; Poljak, M.; Roman, F.; Ruiz, L.; Schmidt, J. -C; Vandamme, A. -M; van Laethem, K. V.; Vercauteren, J.; Kostrikis, Leontios G. (2010)

Background HIV-1 genotypic drug resistance is an important threat to the success of antiretroviral therapy and transmitted resistance has reached 9% prevalence in Europe. Studies have demonstrated that HIV-1 DNA load in ...

Article

Challenge of Drosophila melanogaster with Cryptococcus neoformans and role of the innate immune response

Apidianakis, Yiorgos; Rahme, L. G.; Heitman, J.; Ausubel, F. M.; Calderwood, S. B.; Mylonakis, E. (2004)

We found that the ingestion of Cryptococcus neoformans by Drosophila melanogaster resulted in the death of the fly but that the ingestion of Saccharomyces cerevisiae or the nonpathogenic Cryptococcus kuetzingii or Cryptococcus ...

Article

Clinical aspects of cystinuria

Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)

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 ...

Article

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

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

Article

Comparative developmental anatomy of the murine and human definitive placentae

Georgiades, Pantelis; Fergyson-Smith, A. C.; Burton, G. J. (2002)

The placenta of eutherian mammals is a remarkable biological structure. It is composed of both zygote-derived and maternal cells, and mediates the complex interactions between the mother and the fetus that are necessary ...

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

Contrasting frequencies of CCR5Δ32 and CCR2-64I alleles in the Tunisian population [1]

Barbouche, R. M.; Hong, L.; Dellagi, K.; Kostrikis, Leontios G. (2001)

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 ...

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. ...