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Journal article

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.

Abstract:

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound mutants (Pcsk5(Vcc/null)) completely recapitulate the Pcsk5(Vcc/Vcc) phenotype, as does an epiblast-spec...

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Publication status:
Published

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Publisher copy:
10.1101/gad.479408

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Journal:
Genes and development
Volume:
22
Issue:
11
Pages:
1465-1477
Publication date:
2008-06-05
DOI:
EISSN:
1549-5477
ISSN:
0890-9369
URN:
uuid:d17cbbec-ad6c-41b5-b1e2-2ef29d323253
Source identifiers:
71830
Local pid:
pubs:71830

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