Browsing by Subject "Membrane Proteins"

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

Delta-like and Gtl2 are reciprocally expressed differentially methylated linked imprinted genes on mouse chromosome 12

Takada, S.; Tevendale, M.; Baker, J.; Georgiades, Pantelis; Campbell, E.; Freeman, T.; Johnson, M. H.; Paulsen, M.; Ferguson-Smith, A. C. (2000)

The distal portion of mouse chromosome 12 is imprinted. To date, however, Gtl2 is the only imprinted gene identified on chromosome 12. Gtl2 encodes multiple alternatively spliced transcripts with no apparent open reading ...

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

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease

Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)

Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...

Article

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Magistroni, R.; He, N.; Wang, K.; Andrew, R.; Johnson, A.; Gabow, P.; Dicks, E.; Parfrey, P.; Torra, R.; San-Millan, J. L.; Coto, E.; Van Dijk, M.; Breuning, M.; Peters, D.; Bogdanova, N.; Ligabue, G.; Albertazzi, A.; Hateboer, N.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; St. George-Hyslop, P.; Ravine, D.; Pei, Y. (2003)

Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...

Article

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

Koptides, Michael; Hadjimichael, C.; Koupepidou, P.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1999)

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for ~85% of cases whereas PKD2 on chromosome 4 accounts for ~15%. Mutations in the PKD3 gene ...

Article

The interplay between DSL proteins and ubiquitin ligases in Notch signaling

Pitsouli, Chrysoula; Delidakis, Christos (2005)

Lateral inhibition is a pattern refining process that generates single neural precursors from a field of equipotent cells and is mediated via Notch signaling. Of the two Notch ligands Delta and Serrate, only the former was ...

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

Neural hyperplasia induced by RNA interference with m4/mα gene activity

Nagel, A. C.; Apidianakis, Yiorgos; Wech, I.; Maier, D.; Delidakis, Christos; Preiss, A. (2000)

The E(spl) complex (E(spl)-C) contains three different classes of genes that are downstream of Notch signaling. The bHLH genes mediate the Notch signal by repressing proneural gene activity, for example during the ...

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 cystic fibrosis mutation associated with mild disease in Cypriot patients

Boteva, Kalina; Papageorgiou, Elena; Georgiou, Christina; Angastiniotis, Michael A.; Middleton, Lefkos T.; Constantinou-Deltas, Constantinos D. (1994)

Cyprus is an island in the eastern Mediter-ranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful ...

Article

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)

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

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families

Constantinou-Deltas, Constantinos D.; Christodoulou, Kyproula; Tjakouri, C.; Pierides, Alkis M. (1996)

Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...

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

A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2)

Xenophontos, Stavroulla L.; Constantinides, Rolandos; Hayashi, Tomohito; Mochizuki, Toshio; Somlo, Stefan; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)

Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...

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)