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1
{C}as{EE}: {A} Joint Learning Framework with Cascade Decoding for Overlapping Event Extraction ...
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2
A General Framework for Learning Prosodic-Enhanced Representation of Rap Lyrics ...
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3
Play responsibly? Perceptions of Warning Messages on Lottery Tickets
In: International Conference on Gambling & Risk Taking (2019)
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4
L-NAME releases nitric oxide and potentiates subsequent nitroglycerin-mediated vasodilation
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5
A study of deep learning methods for de-identification of clinical notes in cross-institute settings
Yang, Xi; Lyu, Tianchen; Li, Qian. - : BioMed Central, 2019
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6
Representation of Deep Features using Radiologist defined Semantic Features
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7
Associations between radiologist-defined semantic and automatically computed radiomic features in non-small cell lung cancer
Yip, Stephen S. F.; Liu, Ying; Parmar, Chintan. - : Nature Publishing Group UK, 2017
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8
Associations between radiologist-defined semantic and automatically computed radiomic features in non-small cell lung cancer
Yip, Stephen S. F.; Liu, Ying; Parmar, Chintan. - : Nature Publishing Group UK, 2017
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9
A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family
Abstract: Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR) test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K) in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear.
Keyword: Research Article
URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4020765
https://doi.org/10.1371/journal.pone.0097064
http://www.ncbi.nlm.nih.gov/pubmed/24827932
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10
New Early Eocene Basal tapiromorph from Southern China and Its Phylogenetic Implications
Bai, Bin; Wang, Yuanqing; Meng, Jin. - : Public Library of Science, 2014
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11
Grey and white matter changes in children with monocular amblyopia: voxel-based morphometry and diffusion tensor imaging study
Li, Qian; Jiang, Qinying; Guo, Mingxia. - : BMJ Publishing Group Ltd, 2013
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