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Gene Review

Pkhd1  -  polycystic kidney and hepatic disease 1...

Rattus norvegicus

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Disease relevance of Pkhd1

  • We investigated: (1) the expression of fibrocystin (a product of PKHD1, the autosomal-recessive PKD [ARPKD] gene) in cholangiocyte cilia; (2) biliary cyst formation in an orthologous rat model, PCK; and (3) the effect of Pkhd1 mutation on ciliary structure [1].
 

High impact information on Pkhd1

  • CONCLUSIONS: Our results indicate that fibrocystin is expressed in cholangiocyte cilia and that disruption of Pkhd1 by a germ line mutation in the PCK rat or by siRNA in IBDUs results in abnormalities in ciliary morphology and possibly biliary cystogenesis [1].

References

  1. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Masyuk, T.V., Huang, B.Q., Ward, C.J., Masyuk, A.I., Yuan, D., Splinter, P.L., Punyashthiti, R., Ritman, E.L., Torres, V.E., Harris, P.C., LaRusso, N.F. Gastroenterology (2003) [Pubmed]
 
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