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    Article

    DYX1C1 is required for axonemal dynein assembly and ciliary motility

    Heymut Omran, Joseph LoTurco and colleagues show that mutations in the dyslexia susceptibility candidate gene DYX1C1 cause primary ciliary dyskinesia. Their functional studies suggest that DYX1C1 is required for ...

    Aarti Tarkar, Niki T Loges, Christopher E Slagle, Richard Francis… in Nature Genetics (2013)

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    Article

    ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

    Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in ANKS6 cause nephronophthisis, a recessive cystic kidney disease. They further identify ANKS6 as a component of a prot...

    Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank… in Nature Genetics (2013)

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    Tandem Affinity Purification of Protein Complexes from Mammalian Cells by the Strep/FLAG (SF)-TAP Tag

    Isolation and dissection of native multiprotein complexes is a central theme in functional genomics. The development of the tandem affinity purification (TAP) tag has enabled efficient and large-scale purificatio...

    Christian Johannes Gloeckner, Karsten Boldt, Annette Schumacher… in Proteomics (2009)

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    Article

    Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

    Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity map**, that the LCA5 gene on chromosome 6q14, which encodes the...

    Anneke I den Hollander, Robert K Koenekoop, Moin D Mohamed… in Nature Genetics (2007)

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