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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
Objective: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. Methods: We collected 20 blood-brain… Expand
An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors.
Basic helix-loop-helix (bHLH) transcription factors recognize the canonical E-box (CANNTG) to regulate gene transcription; however, given the prevalence of E-boxes in a genome, it has been puzzling… Expand
Leptin and leptin receptor: Analysis of a structure to function relationship in interaction and evolution from humans to fish
Leptin is a circulating protein which regulates dietary intake through binding the leptin receptor. Numerous labs have used known structures and mutagenesis to study this binding process in common… Expand
Molecular evolution of GPCRs: Melanocortin/melanocortin receptors.
- R. Dores, R. Londraville, J. Prokop, P. Davis, Nathan Dewey, Natalie Lesinski
- Chemistry, Medicine
- Journal of molecular endocrinology
- 1 June 2014
The melanocortin receptors (MCRs) are a family of G protein-coupled receptors that are activated by melanocortin ligands derived from the proprotein, proopiomelanocortin (POMC). During the radiation… Expand
Similarities and differences of X and Y chromosome homologous genes, SRY and SOX3, in regulating the renin-angiotensin system promoters.
The renin-angiotensin system (RAS) is subject to sex-specific modulation by hormones and gene products. However, sex differences in the balance between the vasoconstrictor/proliferative ACE/ANG… Expand
LIMD2 is a small LIM-only protein overexpressed in metastatic lesions that regulates cell motility and tumor progression by directly binding to and activating the integrin-linked kinase.
- H. Peng, Mehdi Talebzadeh-Farrooji, +19 authors F. Rauscher
- Biology, Medicine
- Cancer research
- 1 March 2014
Proteins that communicate signals from the cytoskeleton to the nucleus are prime targets for effectors of metastasis as they often transduce signals regulating adhesion, motility, and invasiveness.… Expand
Discovery of the Elusive Leptin in Birds: Identification of Several ‘Missing Links’ in the Evolution of Leptin and Its Receptor
Leptin is a pleiotropic protein best known for regulation of appetite and fat storage in mammals. While many leptin orthologs have been identified among vertebrates, an authentic leptin in birds has… Expand
Differential Mechanisms of Activation of the Ang Peptide Receptors AT1, AT2, and MAS: Using In Silico Techniques to Differentiate the Three Receptors
The renin-angiotensin system is involved in multiple conditions ranging from cardiovascular disorders to cancer. Components of the pathway, including ACE, renin and angiotensin receptors are targets… Expand
Molecular modeling in the age of clinical genomics, the enterprise of the next generation
- J. Prokop, J. Lazar, Gabrielle Crapitto, D. C. Smith, E. Worthey, H. Jacob
- Biology, Medicine
- Journal of Molecular Modeling
- 15 February 2017
AbstractProtein modeling and molecular dynamics hold a unique toolset to aide in the characterization of clinical variants that may result in disease. Not only do these techniques offer the ability… Expand
Chromosome Y genetic variants: impact in animal models and on human disease.
Chromosome Y (chrY) variation has been associated with many complex diseases ranging from cancer to cardiovascular disorders. Functional roles of chrY genes outside of testes are suggested by the… Expand