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INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Open access
Jacoby, Monique, Cox, James J, Gayral, Stéphanie, Hampshire, Daniel J, Ayub, Mohammed, Blockmans, Marianne, Pernot, Eileen, Kisseleva, Marina V, Compère, Philippe, Schiffmann, Serge N, Gergely, Fanni, Riley, John H, Pérez-Morga, David, Woods, C Geoffrey, Schurmans, Stéphane·2009·Nature Genetics

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Research works printed but not linked: 25

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  7. Kisseleva, M.V., Wilson, M.P. & Majerus, P.W. The isolation and characterization of a cDNA encoding phospholipids specific inositol polyphosphate 5-phosphatase. J. Biol. Chem. 275, 20110–20116 (2000). · DOI
  8. Kong, A.M. et al. Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network. J. Biol. Chem. 275, 24052–24064 (2000). · DOI
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  17. Hampshire, D.J. et al. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur. J. Hum. Genet. 14, 543–548 (2006). · DOI
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  20. Kisseleva, M.V., Cao, L. & Majerus, P.W. Phosphoinositide-specific inositol polyphosphate 5-phosphatase IV inhibits Akp/protein kinase B phosphorylation and leads to apoptotic cell death. J. Biol. Chem. 277, 6266–6272 (2002). · DOI
  21. Santagata, S. et al. G-protein signalling through tubby proteins. Science 292, 2041–2050 (2001). · DOI · Paper page
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  24. Hayashi, S. & McMahon, A.P. Efficient recombination in diverse tissues by a tamoxifen-inducible form of Cre: a tool for temporally regulated gene activation/inactivation in the mouse. Dev. Biol. 244, 305–318 (2002). · DOI · Paper page
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Metadata

Authors
Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compère, P., Schiffmann, S. N., Gergely, F., Riley, J. H., Pérez-Morga, D., Woods, C. G., & Schurmans, S.
Venue
Nature Genetics
Published
2009-08-09
Volume
41
Issue
9
Pages
1027-1031
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2011450474
Cited by
347
References
1
FWCI
11.76
Type
journal article
Language
en
Open access
green
Licence
www.springer.com/tdm (tdm)

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CoChat. (2026). Citation check: INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. https://app.cochat.ai/papers/10.1038/ng.427
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Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compère, P., Schiffmann, S. N., Gergely, F., Riley, J. H., Pérez-Morga, D., Woods, C. G., & Schurmans, S. (2009). INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nature Genetics. https://doi.org/10.1038/ng.427

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