SCN8A encephalopathy: Mechanisms and models

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/152476/1/epi14703_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/152476/2/epi14703.pd

Gene interactions and modifiers in epilepsy

The onset, progression, and severity of epilepsy vary between family members with identical mutations in primary disease genes. The background of genetic variation unique to each individual genome contributes to clinical variation. Known examples of gene interactions in human families and mouse models provide insight into underlying molecular mechanisms. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press. (available on the National Library of Medicine Bookshelf [NCBI] at http://www.ncbi.nlm.nih.gov/books ).Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/79356/1/j.1528-1167.2010.02852.x.pd

Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106152/1/dvg22731.pd

The Remarkable Evolutionary History of the Human Amylase Genes

Analysis of the structures of the human amylase genes has demonstrated that this multigene family contains at least five tandem gene copies, closely related in sequence but with distinct tissue specific expression. The structures of the genes demonstrate that the human salivary amylase gene was derived from a preexisting pancreatic amylase gene. Insertion of a retrovirus upstream of the amylase gene is responsible for the alteration in tissue specificity. A parotid specific enhancer has been identified within the retrovirus by expression studies in transgenic mice. The independent origin of salivary amylase in rodents and primates suggests that there has been strong evolutionary selection for amylase in saliva. The amylase genes demonstrate a novel mechanism for evolution of new patterns of tissue specific gene expression.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/67917/2/10.1177_10454411930040033501.pd

Iatrogenic Horner's Syndrome Due to Chest Tube Compression during Decortication

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Mouse chromosome 3

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46984/1/335_2004_Article_BF00656485.pd