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Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome

Abstract:

Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the digits, ears, and kidneys. These anomalies overlap those seen in a growing number of ciliopathies, which are genetic syndromes linked to defects in the formation or function of the primary cilia. TBS is caused by mutations in the gene encoding the transcriptional repressor SALL1 and is associated with the presence of a truncated protein that localizes to the cytoplasm. Here, we provide evidence that SALL1 muta...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ajhg.2017.12.017

Authors


Bozal-Basterra, L More by this author
Martín-Ruíz, M More by this author
Otti Sigurdsson, J More by this author
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Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
102
Issue:
2
Pages:
249–265
Publication date:
2018-02-01
Acceptance date:
2017-12-19
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:812228
URN:
uri:7253d3b3-7b6e-40e1-8e6d-6d5c016430b6
UUID:
uuid:7253d3b3-7b6e-40e1-8e6d-6d5c016430b6
Local pid:
pubs:812228

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