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PMID:20862291

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Citation

Garcia-Gonzalez, MA, Outeda, P, Zhou, Q, Zhou, F, Menezes, LF, Qian, F, Huso, DL, Germino, GG, Piontek, KB and Watnick, T (2010) Pkd1 and Pkd2 are required for normal placental development. PLoS ONE 5

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of inherited renal failure that results from mutations in PKD1 and PKD2. The disorder is characterized by focal cyst formation that involves somatic mutation of the wild type allele in a large fraction of cysts. Consistent with a two-hit mechanism, mice that are homozygous for inactivating mutations of either Pkd1 or Pkd2 develop cystic kidneys, edema and hemorrhage and typically die in midgestation. Cystic kidney disease is unlikely to be the cause of fetal loss since renal function is not required to complete gestation. One hypothesis is that embryonic demise is due to leaky vessels or cardiac pathology.

Links

PubMed PMC2940908 Online version:10.1371/journal.pone.0012821

Keywords

Animals; Endothelial Cells/metabolism; Female; Male; Mice; Mice, Knockout; Placenta/embryology; Placenta/metabolism; Pregnancy; TRPP Cation Channels/genetics; TRPP Cation Channels/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:PKD1

involved_in

GO:0001822: kidney development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:PKD1

involved_in

GO:0001892: embryonic placenta development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:PKD1

involved_in

GO:0060674: placenta blood vessel development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:PKD2

involved_in

GO:0060674: placenta blood vessel development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:PKD2

involved_in

GO:0001892: embryonic placenta development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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