MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
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Author / Creator
Müller, Thomas , Hess, Michael W , Schiefermeier, Natalia , Pfaller, Kristian , Ebner, Hannes L , Heinz-Erian, Peter , Ponstingl, Hannes , Partsch, Joachim , Röllinghoff, Barbara , Köhler, Henrik , Berger, Thomas , Lenhartz, Henning , Schlenck, Barbara , Houwen, Roderick J , Taylor, Christopher J , Zoller, Heinz , Lechner, Silvia , Goulet, Olivier , Utermann, Gerd , Ruemmele, Frank M , Huber, Lukas A and Janecke, Andreas R
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Andreas Janecke and colleagues identify mutations in
MYO5B
, encoding the type Vb myosin motor protein, in individuals with microvillus inclusion disease, implicating myosin Vb as a key regulator of epithelial cell polarity.
Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in
MYO5B
, e...
Alternative Titles
Full title
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
Authors, Artists and Contributors
Author / Creator
Hess, Michael W
Schiefermeier, Natalia
Pfaller, Kristian
Ebner, Hannes L
Heinz-Erian, Peter
Ponstingl, Hannes
Partsch, Joachim
Röllinghoff, Barbara
Köhler, Henrik
Berger, Thomas
Lenhartz, Henning
Schlenck, Barbara
Houwen, Roderick J
Taylor, Christopher J
Zoller, Heinz
Lechner, Silvia
Goulet, Olivier
Utermann, Gerd
Ruemmele, Frank M
Huber, Lukas A
Janecke, Andreas R
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69605838
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69605838
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.225
