Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0155339 (
Brown
)
12,436
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
While mutations in genes that function in the core molecular clock may disrupt circadian periodicity, their relevance to diurnal variation in metabolic, cardiovascular, and respiratory function is unknown. The circadian
Clock
gene product is an essential regulator of central and peripheral circadian rhythms in mammals. We have elucidated the complete exon-intron organization of the
Clock
gene in rat and have carried out an extensive search for single nucleotide polymorphisms (SNPs) in a panel of 12 inbred rat strains that exhibit diversity in studies of central and peripheral organ function and disease. The rat
Clock
gene consists of 23 exons spanning approximately 75 kb. Comparative sequence analysis identified 33 novel SNPs, including 32 that distinguish the
Brown
Norway (BN) rat from the other strains studied. Most notable were two novel mutations in the BN sequence at exon 8, Ile131Val and Ile132Val, occurring in a segment of the highly conserved PAS-A domain of the protein. These results afford the opportunity to assess the impact of genetic variation in
Clock
on central and peripheral functions subject to the core molecular clock and to test the importance of
Clock
variants in explaining diversity among rat strains in the expression of phenotypes, such as blood pressure, subject to circadian oscillation.
...
PMID:Genomic organization of the rat Clock gene and sequence analysis in inbred rat strains. 1637 16
Investigators from Children's National Medical Center, Wenzhou Medical University, Virginia Tech, University of Colorado, University of Virginia, Georgetown University, University of Maryland, and
Brown
University performed transcriptome analysis on human epileptogenic tissue and extended the investigation by creating and testing mouse lines with targeted genetic deletions of the
Clock
gene.
...
PMID:Focal Epilepsy and the
Clock
Gene. 2902 62
