Browsing by Subject "membrane protein"

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

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

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

Voskarides, Konstantinos; Stefanou, Charalambos; Pieri, Myrtani; Demosthenous, Panayiota; Felekkis, Kyriacos N.; Arsali, Maria; Athanasiou, Yiannis; Xydakis, D.; Stylianou, Konstantinos G.; Daphnis, Eugenios K.; Goulielmos, George N.; Loizou, P.; Savige, J.; Höhne, M.; Völker, L. A.; Benzing, T.; Maxwell, P. H.; Gale, D. P.; Gorski, M.; Böger, C.; Kollerits, B.; Kronenberg, F.; Paulweber, B.; Zavros, Michalis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2017)

Background Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a ...

Article

Genistein induces maturation of cultured human breast cancer cells and prevents tumor growth in nude mice

Constantinou, Andreas I.; Krygier, A. E.; Mehta, R. R. (1998)

Results of recent studies in animal models of mammary carcinogenesis showed that the soybean isoflavone genistein is a chemopreventive agent. The objective of the present study was to determine whether soybean isoflavones ...

Article

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Koufaris, Costas; Papagregoriou, Gregory N.; Kousoulidou, Ludmila; Moutafi, Maria; Tauber, Maïthé Thérèse; Jouret, Béatrice; Kieffer, Isabelle; Constantinou-Deltas, Constantinos D.; Tanteles, George A.; Anastasiadou, Violetta C.; Patsalis, Philippos C.; Sismani, Carolina (2015)

MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, ...

Article

KIF2β, a new kinesin superfamily protein in non-neuronal cells, is associated with lysosomes and may be implicated in their centrifugal translocation

Santama, Niovi; Krijnse-Ĺocker, J.; Griffiths, G.; Noda, Y.; Hirokawa, N.; Dotti, C. G. (1998)

Lysosomes concentrate juxtanuclearly in the region around the microtubule-organizing center by interaction with microtubules. Different experimental and physiological conditions can induce these organelles to move to the ...

Article

Mutations of the human polycystic kidney disease 2 (PKD2) gene

Constantinou-Deltas, Constantinos D. (2001)

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. ...

Article

Neuralized Encodes a Peripheral Membrane Protein Involved in Delta Signaling and Endocytosis

Pavlopoulos, Elias; Pitsouli, Chrysoula; Klueg, K. M.; Muskavitch, M. A. T.; Moschonas, Nicholas K.; Delidakis, Christos (2001)

Activation of the Notch (N) receptor involves an intracellular proteolytic step triggered by shedding of the extracellular N domain (N-EC) upon ligand interaction. The ligand Dl has been proposed to effect this N-EC shedding ...

Article

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 ...

Article

The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis

Kypri, Elena; Christodoulou, A.; Maimaris, G.; Lethan, M.; Markaki, M.; Lysandrou, C.; Lederer, C. W.; Tavernarakis, N.; Geimer, S.; Pedersen, L. B.; Santama, Niovi (2014)

Nucleotide-binding proteins Nubp1 and Nubp2 are MRP/MinD-type P-loop NTPases with sequence similarity to bacterial division site-determining proteins and are conserved, essential proteins throughout the Eukaryotes. They ...

Article

Overexpression of the m4 and mα genes of the E(spl)-Complex antagonizes Notch mediated lateral inhibition

Apidianakis, Yiorgos; Nagel, A. C.; Chalkiadaki, Angeliki; Preiss, A.; Delidakis, Christos (1999)

Intercellular signalling mediated by Notch proteins is crucial to many cell fate decisions in metazoans. Its profound effects on cell fate and proliferation require that a complex set of responses involving positive and ...

Article

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 ...

Article

Role of conserved intracellular motifs in Serrate signalling, cis-inhibition and endocytosis

Glittenberg, M.; Pitsouli, Chrysoula; Garvey, C.; Delidakis, Christos; Bray, S. (2006)

Notch is the receptor in a signalling pathway that operates in a diverse spectrum of developmental processes. Its ligands (e.g. Serrate) are transmembrane proteins whose signalling competence is regulated by the ...

Article

ΔF508 cystic fibrosis mutation appears very infrequently in the Greek‐Cypriot community of Cyprus

Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Ioannou, Panayiotis A.; Angastiniotis, Michael A.; Aristodemou, Elena (1992)