Neurogenomics – Multimedia

Poster
Severe Combined Immunodeficiency (SCID) caused by thymic aplasia due to a mutation in TBX1
We report one of the first cases of TBX1 haploinsufficiency causing complete thymic aplasia and SCID.

Listicle
Beautiful Brain Images
Depicting some of the most beautiful images of the brain: from Santiago Ramón y Cajal’s detailed drawings; to see-through brains with CLARITY; to looking inside the human head with MRI.

App Note / Case Study
Detection of RNA in the central and peripheral nervous system using the RNAscope® in situ hybridization assay
The RNAscope® in situ hybridization (ISH) assay provides a powerful method to detect gene expression within the spatial and morphological tissue context.

Poster
Differences in the Neurophysiology of Infants with Down Syndrome May Predict Protective/Risk Markers for Subsequent Alzheimer’s Disease
Our work set out to understand early individual differences in memory abilities of infants with DS that may be predictive of subsequent cognitive phenotypes of AD.

Poster
Digital PCR to Determine the Number of Transcripts from Single Neurons after Patch-clamp Recording
Whole-cell patch-clamp recording enables detecting electrophysiological signals from neurons, and RNA can be harvested into the patch pipette from the cells.We have optimized a dPCR protocol for determining exact transcript numbers in single neurons after patch-clamp recording by using dPCR based on high-density nanocapillary PCR.

Poster
Biomarker Discovery Strategy for Trisomy 21 Using iTRAQ and 4800 Plus MALDI TOF/TOF
Plasma proteins serve as good indicators of disease as there are representative proteins from several cellular processes and thus a potential source for biomarker discovery. The large dynamic range of plasma proteins makes the analysis very challenging, as a large number of low abundance proteins are masked by a few high abundance proteins.
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