Genes encoding catalytic subunits of protein kinase A and risk of spina bifida

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 73, Issue 9, 2005, Pages 591-596

  Zhu, Huiping ^a   Lu, Wei ^a   Laurent, Cecile ^c   Shaw, Gary M ^c   Lammer, Edward J ^d   Finnell, Richard H ^a,b  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

^b TEXAS A AND M UNIVERSITY   (United States)

^c California Birth Defects Monitoring Program   (United States)

^d CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

Case control study; PRKACA; PRKACB; Spina bifida

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; DNA; SONIC HEDGEHOG PROTEIN;

ARTICLE; BIRTH DEFECT; CASE CONTROL STUDY; CATALYSIS; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME SUBUNIT; FETUS; GENE FREQUENCY; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEURAL TUBE DEFECT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK; SINGLE NUCLEOTIDE POLYMORPHISM; SPINA BIFIDA;

ALLELES; CALIFORNIA; CASE-CONTROL STUDIES; CATALYTIC DOMAIN; CYCLIC AMP-DEPENDENT PROTEIN KINASES; EXONS; FEMALE; GENE FREQUENCY; GENETIC MARKERS; HUMANS; INTRONS; MEDICAL RECORDS; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; POPULATION SURVEILLANCE; PREGNANCY; PREGNANCY OUTCOME; PROTEIN STRUCTURE, TERTIARY; PROTEIN SUBUNITS; RISK FACTORS; SEQUENCE ANALYSIS, DNA; SPINAL DYSRAPHISM; VARIATION (GENETICS);

ERINACEIDAE;

EID: 26444495003     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.20175     Document Type: Article

References (19)

1. Croen LA, Shaw GM, Jensvold NG, Harris JA. 1991. Birth defects monitoring in California: a resource for epidemiological research. Paediatr Perinat Epidemiol 5:423-427.
2. Epstein DJ, Marti E, Scott MP, McMahon AP. 1996. Antagonizing cAMP-dependent protein kinase A in the dorsal CNS activates a conserved Sonic hedgehog signaling pathway. Development 122:2885-2894.
3. Griffioen G, Thevelein JM. 2002. Molecular mechanisms controlling the localization of protein kinase A. Curr Genet 41:199-207.
4. Hammerschmidt M, Bitgood MJ, McMahon AP. 1996. Protein kinase A is a common negative regulator of hedgehog signaling in the vertebrate embryo. Genes Dev 10:647-658.
5. Huahg Y, Roelink H, McKnight SG. 2002. Protein kinase A deficiency causes axially localized neural tube defects in mice. J Biol Chem 277:19889-19896.
6. Ingham PW. 1998. Transducing hedgehog: the story so far. EMBO J 17:3505-3511.
7. Kirillova I, Novikova I, Auge J, et al. 2000. Expression of the sonic hedgehog gene in human embryos with neural tube defects. Teratology 61:347-354.
8. Noveen A, Jiang TX, Chuong CM. 1996. cAMP, an activator of protein kinase A, suppresses the expression of sonic hedgehog. Biochem Biophys Res Commun 219:180-185.
9. Odent S, Atti-Bitach T, Blayay M, et al. 1999. Expression of the sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet 8:1683-1689.
10. Ohlmeyer J, Kalderon D. 1997. Dual pathways for induction of wingless expression by protein-kinase-A and hedgehog in drosophila embryos. Gene Dev 11:2250-2258.
11. Poueymirou WT, Schultz RM. 1989. Regulation of mouse preimplantation development: inhibition of synthesis of proteins in the two-cell embryo that require transcription by inhibitors of cAMP-dependent protein kinase. Dev Biol 133:588-599.
12. Robertson CP, Gibbs SM, Roelink H. 2001. cGMP enhances the sonic hedgehog response in neural plate cells. Dev Biol 238:157-167.
13. Roelink H, Ausburger A, Heemskerk J, et al. 1994. Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord. Cell 90:761-775.
14. Roelink H, Porter JA, Chiang C, et al. 1995. Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis. Cell 81:445-455.
15. Schulman J, Hahn JA. 1993. Quality control of birth defect registry data: a case study. Public Health Rep 108:91-98.
16. Schwartz EI, Khalchitsky SE, Eisensmith RC, Wop SL. 1990. Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet 336:639-640.
17. Skalhegg BS, Huang Y, Su T, et al. 2002. Mutation of the Calpha subunit of PKA leads to growth retardation and sperm dysfunction. Mol Endocrinol 16:630-639.
18. Tang LS, Finnell RH. 2003. Neural and orofacial defects in Folbp1 knockout mice. Birth Defects Res A Clin Mol Teratol 67:209-218.
19. Ungar AR, Moon RT. 1996. Inhibition of protein kinase A phenocopies ectopic expression of hedgehog in the CNS of wild-type and Cyclops mutant embryos. Dev Biol 178:186-191.