A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype

Human Molecular Genetics

Volumn 9, Issue 18, 2000, Pages 2617-2627

  Pritchard, Lynn ^a   Sloane Stanley, Jackie A ^a   Sharpe, Jackie A ^a   Aspinwall, Richard ^a   Lu, Weining ^b   Buckle, Veronica ^a   Strmecki, Lana ^d   Walker, Denise ^d   Ward, Christopher J ^d   Alpers, Charles E ^c   Zhou, Jing ^b   Wood, William G ^a   Harris, Peter C ^d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; POLYCYSTIN;

ADULTHOOD; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENE FUNCTION; GENE OVEREXPRESSION; HUMAN; KIDNEY POLYCYSTIC DISEASE; KNOCKOUT MOUSE; LIVER CYST; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; TRANSGENE; TRANSGENIC MOUSE;

EID: 0034326865     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.18.2617     Document Type: Article

References (67)

1. Autosomal dominant polycystic kidney disease
2. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
3. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
4. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
5. Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains
6. Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
7. Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins
8. The PKD1 gene product, 'polycystin-1' is a tyrosine-phosphorylated protein that co-localizes with α2β1-integrin in focal clusters in adherent renal epithelia
9. The polycystic kidney disease 1 gene product mediates protein kinase C α-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1
10. The polycystic kidney disease I gene product modulates Wnt signaling
11. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects
12. Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25
13. Identification of a human homologue of the sea urchin receptor for egg jelly: A polycystic kidney disease-like protein
14. Specific association of the gene product of PKD2 with the TRPC1 channel
15. Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: Sequence, expression, alternative splicing, and chromosomal localization
16. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions
17. Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene by a novel approach
18. Renal cystic disease in tuberous sclerosis: The role of the polycystic kidney disease 1 gene
19. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation
20. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes
21. Polycystin 1 is required for the structural integrity of blood vessels
22. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1
23. Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease
24. Somatic inactivation of Pkd2 results in polycystic kidney disease
25. Somatic PKD2 mutations in individual kidney and liver cysts support a 'two-hit' model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
26. A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2
27. Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
28. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations
29. Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult and polycystic kidney
30. Identification and localization of polycystin, the PKD1 gene product
31. Vascular expression of polycystin
32. Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue
33. Autosomal dominant polycystic kidney disease-more than a renal disease
34. Distribution and developmentally regulated expression of murine polycystin
35. Polycystin-1 expression in PKD1, early onset PKD1 and TSC2/PKD1 cystic tissue: Implications for understanding cystogenesis
36. Molecular basis of renal cyst formation-one hit or tow?
37. PKD1 interacts with PKD2 through a probable coiled-coil domain
38. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2
39. Polycystin-2 expression is developmentally regulated
40. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene
41. The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimetric G-proteins in vitro
42. Interaction between RGS7 and polycystin
43. Genome duplications and other features in 12 Mbp of DNA sequence from human chromosome 16p and 16q
44. Polycystn: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein
45. Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe
46. Polycystic kidney disease in the fetus
47. Autosomal dominant polycystic kidney disease in the fetus
48. Cardiac defects and renal failure in mice with targeted mutations in Pkd2
49. Autosomal dominant polycystic kidney disease: Molecular analysis
50. Differential rescue of the renal and hepatic disease in an autosomal recessive polycystick kidney disease mouse mutant. A new model to study the liver lesion
51. 2+ pump, cause darier disease
52. Proteolipid protein gene: Pelizaeus-merzbacher disease in humans and neurodegeneration in mice
53. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of pelizaeus-merzbacher disease
54. C-myc as an inducer of polycystic kidney disease in transgenic mice
55. An activated allele of the c-erbB-2 oncogene impairs kidney and lung function and causes early death of transgenic mice
56. Targeting of the rasT24 oncogene to the proximal convoluted tubules in transgenic mice results in hyperplasia and polycystic kidneys
57. Glomerulosclerosis and renal cysts in mice transgenic for the early region of SV40
58. Renal cysts in transgenic mice expressing transforming growth factor-α
59. Identification and characterization of the tuberous sclerosis gene on chromosome 16
60. The mouse homologue of PKD1: Sequence analysis and alternative splicing
61. A long-range restriction map between the α-globin complex and a marker closely linked to the polycystic kidney disease (PKD1) locus
62. Fluorescent in situ hybridisation
63. A new bacteriophage P1-derived vector for a propagation of large human DNA fragments
64. Manipulating the mouse embryo
65. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
66. Regulation of angiogenic growth factor expression by hypoxia, transition metals, and chelating agents
67. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products