Journal: bioRxiv

Article Title: Bayesian modeling of skewed X inactivation in genetically diverse mice identifies a novel Xce allele associated with copy number changes

doi: 10.1101/2020.11.13.380535

Figure Lengend Snippet: XCI proportion for all 266 samples across 28 CC-RIXs. Crosses where both CC parent contain previously-observed Xce alleles (A), and crosses where at least one CC parent is NOD or NZO within the interval (B). The y-axis labels state the CC-RIX followed by the two founder haplotypes that overlap the Xce in that CC-RIX. The Xce comparison for each group of RIX crosses is noted on the left vertical axis. Square points show the mean estimate of XCI proportion with 95% HPD bars for individual samples. The size of the point reflects the total k-mer counts from the sample, corresponding to its total RNA-seq read count and informativeness. Each cross is summarized across the RIX with round points. Crosses in gray match our predicted estimates of XCI skew based on known or inferred Xce allele whereas crosses highlighted in magenta do not.

Article Snippet: SP1 : For 188 mice, total RNA was extracted from ∼25 mg of powdered right brain hemisphere tissue using Maxwell 16 Tissue LEV Total RNA Purification Kit (AS1220, Promega, Madison, WI).

Techniques: RNA Sequencing Assay

Journal: Annals of Clinical and Translational Neurology

Article Title: Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge–Weber syndrome

doi: 10.1002/acn3.546

Figure Lengend Snippet: Extensive skin manifestation of Sturge–Weber syndrome. Right‐sided facial venous malformation (port‐wine birthmark) extending to the scalp, ear, and right arm, chest, and back.

Article Snippet: A 3T MRI (on a Siemens MAGNETOM Verio scanner, with a 32‐channel head coil) showed extensive right hemispheric SWS brain involvement with leptomeningeal enhancement on postcontrast T1‐weighted images involving portions of all four lobes along with lack or paucity of normal cortical veins extensively (Fig. A).

Techniques: