Browsing by Subject "polycystin"

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

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

Genetic variation of DKK3 may modify renal disease severity in ADPKD

Liu, M.; Shi, S.; Senthilnathan, S.; Yu, J.; Wu, E.; Bergmann, C.; Zerres, K.; Bogdanova, N.; Coto, E.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Demetriou, Kyproula; Devuyst, O.; Gitomer, B.; Laakso, M.; Lumiaho, A.; Lamnissou, Klea; Magistroni, R.; Parfrey, P.; Breuning, M.; Peters, D. J. M.; Torra, R.; Winearls, C. G.; Torres, V. E.; Harris, Peter C.; Paterson, A. D.; Pei, Y. (2010)

Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations ...

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

Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2

Felekkis, Kyriacos N.; Koupepidou, P.; Kastanos, E.; Witzgall, R.; Bai, C. -X; Li, L.; Tsiokas, L.; Gretz, N.; Constantinou-Deltas, Constantinos D. (2008)

Background. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the formation of multiple fluid-filled cysts that destroy the kidney architecture resulting in end-stage renal failure. Mutations in genes ...

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

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

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

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

Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1

Article

Weak evidence for allelic association in the cypriot PKD1 population.

Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Pierides, Alkis M. (1995)