Full size table Fig. 1 a Distribution of missense mutations (≥ 3 cases) in CpG codons. b Distribution of nonsense mutations in CGA codons Full size image Distribution of nonsense mutations Among the nonsense mutations, transitions within CpG dinucleotides were highly mutated and repetitive, with...
Full size table Translation of clinical data into HPO terms In the cohort of 413 independent individuals, we encoded a total of 2,935 HPO terms with a median of 6 terms per individual. We inferred higher-level HPO terms and arrived at a total of 10,860 terms (562 unique terms) with a...
Genetic alterations in the SCN1A gene coding for the α-subunit of the neuronal voltage-gated sodium ion channel, type 1 (NaV 1.1), is associated with a spectrum of seizure-related disorders in human, ranging from a relatively milder form of febrile seizures to a more severe epileptic ...
Journal of Medical GeneticsBlanchard MG, et al. (2015) De novo gain-of- function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J. Med. Genet. 52:330-7Blanchard, M. G., Willemsen, M. H., Walker, J. B., Dib-Hajj, S. D., Waxman...
Similar to the gene microarray results, however, none of these genes showed an age-related change in the level of expression (Fig. 5). View Full Size Figure 4 Gene expression profiling in the suprachiasmatic nucleus (SCN) of young adult and old rhesus macaques, using gene arrays. Fold...
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Works in adherence with the signed SLA, which outlines project timelines, responsibilities, deliverables, etc. Outlines a KPI system for full visibility into the DWH project progress health. Sets up transparent collaboration in the form of: meetings with project stakeholders, presentations of important...
In fact, at CERN, light is bent in a circle, to create high energy collisions that physicists use in their experiments.All of these basic observations have been missed by biology, but they are taken full advantage of in modern GPS devices, and in your SCN, to give the signals to your ...
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American Journal of Medical Genetics Part AGay S, Dupuis D, Faivre L et al (2008) Severe neonatal non- dystrophic myotonia secondary to a novel mutation of the voltage- gated sodium channel (SCN4A) gene. Am J Med Genet A 146:380-383...