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The three species of bears in North America, polar bears (Ursus maritimus Phipps, 1774), brown bears (Ursus arctos L., 1758), and black bears (Ursus americanus Pallas, 1780), have differentiated morphologies and nuclear and mitochondrial genomes. An exception is a paraphyletic mitochondrial DNA relationship and some nuclear gene lineages common to polar(More)
Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy caused by missense mutations in the small integral membrane protein of lysosome/late endosome (SIMPLE) gene. To investigate the prevalence of SIMPLE mutations, we screened a cohort of 152 probands with various types of demyelinating or axonal and pure(More)
We carried out an analysis of the expression of Prox1, a homeo-domain transcription factor, during mouse inner ear development with particular emphasis on the auditory system. Prox1 is expressed in the otocyst beginning at embryonic day (E)11, in the developing vestibular sensory patches. Expression is down regulated in maturing (myosin VIIA immunoreactive)(More)
Tau filaments are the pathological hallmark of >20 neurodegenerative diseases including Alzheimer's disease. Six tau isoforms exist that can be grouped into 4-repeat (4R) tau and 3-repeat (3R) tau based on the presence or absence of the second of four microtubule binding repeats. Recent evidence suggests that tau filaments can transfer between cells and(More)
Pyridoxine-dependent seizure (PDS) is a rare autosomal recessive intractable seizure disorder only controlled by a daily supplementation of pharmacological doses of pyridoxine (Vitamin B6). Although glutamate decarboxylase utilizes pyridoxal phosphate as a cofactor during conversion of the excitatory amino acid, glutamate, to the inhibitory(More)
Ambiguity in meanings of words or phrases in a document is considered one of the most primary barriers in natural language processing. In this work, we address the task of identifying and linking mentions of entities into correct referents described in a given knowledge base. To deal with it, we propose a supervised learning method for ranking candidate(More)
Wikification is the task to link textual mentions in a document to articles in Wikipedia. It comprises three main steps, namely, mention recognition, candidate generation, and entity linking. For candidate generation, existing methods use hyperlinks in Wikipedia or match a mention of discourse to Wikipedia article titles. They may miss the correct target(More)
MOTIVATION Gene set enrichment (GSE) analysis allows researchers to efficiently extract biological insight from long lists of differentially expressed genes by interrogating them at a systems level. In recent years, there has been a proliferation of GSE analysis methods and hence it has become increasingly difficult for researchers to select an optimal GSE(More)
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