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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2005-9-20
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pubmed:abstractText |
PRKACA and PRKACB are genes encoding the cAMP-dependent protein kinase A (PKA) catalytic subunits alpha and beta, respectively. PKA is known to be involved in embryonic development, as it down-regulates the Hedgehog (Hh) signaling pathway, which is critical to normal pattern formation and morphogenesis. The PKA-deficient mouse model, which has only a single catalytic subunit, provided intriguing evidence demonstrating a relationship between decreased PKA activity and risk for posterior neural tube defects (NTDs) in the thoracic to sacral regions of gene-knockout mice. Unlike most other mutant mouse models of NTDs, the PKA-deficient mice develop spina bifida with 100% penetrance. We hypothesized that sequence variations in human genes encoding the catalytic subunits may alter the PKA activity and similarly increase the risk of spina bifida.
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pubmed:grant |
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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 |
Sep
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pubmed:issn |
1542-0752
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pubmed:author |
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pubmed:copyrightInfo |
Birth Defects Research (Part A), 2005. (c) 2005 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
591-6
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pubmed:dateRevised |
2011-6-14
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pubmed:meshHeading |
pubmed-meshheading:16080189-Alleles,
pubmed-meshheading:16080189-California,
pubmed-meshheading:16080189-Case-Control Studies,
pubmed-meshheading:16080189-Catalytic Domain,
pubmed-meshheading:16080189-Cyclic AMP-Dependent Protein Kinases,
pubmed-meshheading:16080189-Exons,
pubmed-meshheading:16080189-Female,
pubmed-meshheading:16080189-Gene Frequency,
pubmed-meshheading:16080189-Genetic Markers,
pubmed-meshheading:16080189-Genetic Variation,
pubmed-meshheading:16080189-Humans,
pubmed-meshheading:16080189-Introns,
pubmed-meshheading:16080189-Medical Records,
pubmed-meshheading:16080189-Penetrance,
pubmed-meshheading:16080189-Polymorphism, Single Nucleotide,
pubmed-meshheading:16080189-Population Surveillance,
pubmed-meshheading:16080189-Pregnancy,
pubmed-meshheading:16080189-Pregnancy Outcome,
pubmed-meshheading:16080189-Protein Structure, Tertiary,
pubmed-meshheading:16080189-Protein Subunits,
pubmed-meshheading:16080189-Risk Factors,
pubmed-meshheading:16080189-Sequence Analysis, DNA,
pubmed-meshheading:16080189-Spinal Dysraphism
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pubmed:year |
2005
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pubmed:articleTitle |
Genes encoding catalytic subunits of protein kinase A and risk of spina bifida.
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pubmed:affiliation |
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas.
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pubmed:publicationType |
Journal Article,
Comparative Study
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