Linked Life Data

17299246

Source:http://linkedlifedata.com/resource/pubmed/id/17299246

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-2-20
pubmed:abstractText
Genetic analyses of circadian rhythm sleep disorders (CRSD), such as familial advanced sleep phase syndrome (ASPS) and delayed sleep phase syndrome (DSPS), and morningness-eveningness revealed the relationship between variations in clock genes and diurnal change in human behaviors. Variations such as T3111C in the Clock gene are reportedly associated with morningness-eveningness. Two of the pedigrees of familial ASPS (FASPS) are caused by mutations in clock genes: the S662G mutation in the Per2 gene or the T44A mutation in the casein kinase 1 delta (CK1delta) gene, although these mutations are not found in other pedigrees of FASPS. As for DSPS, a missense variation in the Per3 gene is identified as a risk factor, while the one in the CK1epsilon gene is thought to be protective. These findings suggest that further, as yet unidentified, gene variations are involved in human circadian activity. Many of the CRSD-relevant variations reported to date seem to affect the phosphorylation status of the clock proteins. A recent study using mathematical models of circadian rhythm generation has provided a new insight into the role of phosphorylation in the molecular mechanisms of these disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1347-8613
pubmed:author
pubmed:issnType
Print
pubmed:volume
103
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
150-4
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Circadian rhythms in the CNS and peripheral clock disorders: human sleep disorders and clock genes.
pubmed:affiliation
Department of Sleep Disorder Research, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. t-ebisawa@umin.ac.jp
pubmed:publicationType
Journal Article, Review