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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2010-5-3
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pubmed:abstractText |
Usher syndrome is the most common form of hereditary deaf-blindness. It is both clinically and genetically heterogeneous. The USH2D protein whirlin interacts via its PDZ domains with other Usher-associated proteins containing a C-terminal type I PDZ-binding motif. These proteins co-localize with whirlin at the region of the connecting cilium and at the synapse of photoreceptor cells. This study was undertaken to identify novel, Usher syndrome-associated, interacting partners of whirlin and thereby obtain more insights into the function of whirlin.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1552-5783
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pubmed:author |
pubmed-author:KatsanisNicholasN,
pubmed-author:KerstenFerry F JFF,
pubmed-author:KeunenJan E EJE,
pubmed-author:KremerHannieH,
pubmed-author:MärkerTinaT,
pubmed-author:PetersTheo ATA,
pubmed-author:RoepmanRonaldR,
pubmed-author:WolfrumUweU,
pubmed-author:van ReeuwijkJeroenJ,
pubmed-author:van WijkErwinE,
pubmed-author:van der ZwaagBertB
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pubmed:issnType |
Electronic
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2338-46
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pubmed:meshHeading |
pubmed-meshheading:19959638-Animals,
pubmed-meshheading:19959638-Blotting, Western,
pubmed-meshheading:19959638-COS Cells,
pubmed-meshheading:19959638-Calcium Channels, L-Type,
pubmed-meshheading:19959638-Cercopithecus aethiops,
pubmed-meshheading:19959638-Computational Biology,
pubmed-meshheading:19959638-Databases, Protein,
pubmed-meshheading:19959638-In Situ Hybridization,
pubmed-meshheading:19959638-Membrane Proteins,
pubmed-meshheading:19959638-Mice,
pubmed-meshheading:19959638-Mice, Inbred C57BL,
pubmed-meshheading:19959638-Microscopy, Immunoelectron,
pubmed-meshheading:19959638-Photoreceptor Cells, Vertebrate,
pubmed-meshheading:19959638-Photoreceptor Connecting Cilium,
pubmed-meshheading:19959638-RNA, Messenger,
pubmed-meshheading:19959638-Rats,
pubmed-meshheading:19959638-Rats, Wistar,
pubmed-meshheading:19959638-Retina,
pubmed-meshheading:19959638-Two-Hybrid System Techniques
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pubmed:year |
2010
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pubmed:articleTitle |
Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.
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pubmed:affiliation |
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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