Review articles in prestige journal Nature Genetics

Identification of distribution and functional impact of DNA copy number variation in the rat

The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes. We used computational and experimental methods to catalogue CNVs in the rat and show that they encompass up to 1.5% of the rat genome and share important functional characteristics with human. Furthermore, by exploiting genetic and functional data available for rat recombinant inbred panels we were able to robustly establish the functional relationship of CNVs underlying 16 eQTLs. These characteristics make the rat an excellent model for studying phenotypic effects of structural variation in relation to human complex traits and disease.
V. Guryev, K. Saar, T. Adamovic, M. Verheul, S. A. A. C. van Heesch, S. Cook, M. Pravenec, T. Aitman, H. Jacob, J. D. Shull, N. Hubner, E. Cuppen: Distribution and functional impact of DNA copy number variation in the rat, Nature Genetics 40:538-545, 2008, IF=25.556

Author: pravenecbiomed.cas.cz
 

Review articles in prestige journal Nature Genetics
Identification of osteoglycin (Ogn) as a genetic determinant predisposing to left ventricular hypertrophy in rats, mice, and humans

Review articles in prestige journal Nature Genetics
Identification of single nucleotide polymorphisms and haplotype mapping in the rat

Review articles in prestige journal Nature Genetics
Identification of renal Cd36 as a genetic determinant of blood pressure and risk for hypertension

Journal article: Nature Genetics
Molecular-genetic basis of severe inherited mitochondrial disease – neonatal encephalo-cardiomyopathy.

Article: Obesity
Chemical derivatives of docosahexaenoic acid (DHA) in the prevention and reversal of obesity in mice fed a high-fat diet

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n-3 fatty acids and rosiglitazone exerts additive effects on muscle glycogen synthesis in mice fed a high-fat diet

Journal article: Proceedings of National Academy of Sciences of the USA
Risperidone and ritanserin but not haloperidol block effect of dizocilpine on the active allothetic place avoidance task

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Current informations about the FOXO subgroup of forkhead transcription factors and mechanism of regulation

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Journal article: Neurobiology of Aging
Evidence of impairment of muscarinic transmission in transgenic APPswe/PS1dE9 mouse model of Alzheimer´s disease.

Journal article: American Journal of Physiology Endocrinology and Metabolism
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EBBS Award for Dr. Stuchlik
European Brain and Behaviour Society 40th Anniversary Award.

Gastroenterology
Insight into circadian clock within the rat colonic epithelial cells.

Review article: Genome Research
Identification of a direct linkage of mitochondrial genome variation to risk factors for type 2 diabates in conplastic strains

Journal of Biological Chemistry
N- terminal loop and wing W2- regions of forkhead domain are important for stability of the FoxO4-DBD-DNA complex.

Journal article: Journal of Pharmacology and Experimental Therapeutics
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Journal article: Journal of Pharmacology and Experimental Therapeutics
Evidence of the direct activation of Gq/11 and Gs G-proteins by agonist stimulation of the M2 muscarinic receptor.

Journal article: Proceedings of National Academy of Sciences of the USA
Impaired hippocampal rhythmogenesis in a mouse model of mesial temporal lobe epilepsy.

Journal article: Journal of Chromatography A
Study of posttranslational non-enzymatic modifications of collagen by CE–MS/MS, and HPLC–MS/MS