Autosomal dominant polycystic kidney disease: Modification of disease progression

Lancet

Volumn 358, Issue 9291, 2001, Pages 1439-1444

  Peters, Dorien J M ^a   Breuning, Martijn H ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIN;

AUTOSOMAL DOMINANT DISORDER; DISEASE COURSE; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC CODE; GERM LINE; HUMAN; HYPERTENSION; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVIEW; SOMATIC MUTATION;

EID: 0035960436     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(01)06531-X     Document Type: Review

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12. Cellular localization and tissue distribution of polycystin-1
13. Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins
14. The PKD1 gene product, "polycystin-1," is a tyrosine-phosphorylated protein that colocalizes with α2β1-integrin in focal clusters in adherent renal epithelia
15. Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1
16. Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK-cells
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20. Specific association of the gene product of PKD2 with the TRPC1 channel
21. Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel
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71. Somatic mutations are frequent and increase with age in human kidney epithelial cells
72. Human mitochondrial manganese superoxide dismutase polymorphic variant Ile58Thr reduces activity by destabilizing the tetrameric interface
73. The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro
74. Interaction between RGS7 and polycystin
75. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton
76. In vivo interaction of the adapter protein CD2AP with the type 2 polycystic kidney disease protein, polycystin-2
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89. Modifier genes in humans: Strategies for identification