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The trans-ancestral genomic architecture of glycemic traits.
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The trans-ancestral genomic architecture of glycemic traits.
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In: Nature genetics, vol. 53, no. 6, pp. 840-860 (2021)
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Study of central exclusive [Image: see text] production in proton-proton collisions at [Formula: see text] and 13TeV
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In: Eur Phys J C Part Fields (2020)
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Search for dark matter produced in association with heavy-flavor quark pairs in proton-proton collisions at [Formula: see text]
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Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals
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In: Huang, T; Santarelli, R; & Starr, A. (2009). Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals. Brain Research, 1300, 97 - 104. doi:10.1016/j.brainres.2009.08.083. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/6b3164cm (2009)
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Abstract:
Autosomal dominant optic atrophy (DOA) is a retinal neuronal degenerative disease characterized by a progressive bilateral visual loss. We report on two affected members of a family with dominantly inherited neuropathy of both optic and auditory nerves expressed by impaired visual acuity, moderate pure tone hearing loss, and marked loss of speech perception. We investigated cochlear abnormalities accompanying the hearing loss and the effects of cochlear implantation. We sequenced OPA1 gene and recorded cochlear receptor and neural potentials before cochlear implantation. Genetic analysis identified R445H mutation in OPA1 gene. Audiological studies showed preserved cochlear receptor outer hair cell activities (otoacoustic emissions) and absent or abnormally delayed auditory brainstem responses (ABRs). Trans-tympanic electrocochleography (ECochG) showed prolonged low amplitude negative potentials without auditory nerve compound action potentials. The latency of onset of the cochlear potentials was within the normal range found for inner hair cell summating receptor potentials. The duration of the negative potential was reduced to normal during rapid stimulation consistent with adaptation of neural sources generating prolonged cochlear potentials. Both subjects had cochlear implants placed with restoration of hearing thresholds, speech perception, and synchronous activity in auditory brainstem pathways. The results suggest that deafness accompanying this OPA1 mutation is due to altered function of terminal unmyelinated portions of auditory nerve. Electrical stimulation of the cochlea activated proximal myelinated portions of auditory nerve to restore hearing. © 2009 Elsevier B.V. All rights reserved.
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URL: http://www.escholarship.org/uc/item/6b3164cm
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Stochastic Syntactic Analysis and Syntactic Pattern Recognition
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In: DTIC AND NTIS (1972)
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ON STOCHASTIC CONTEXT-FREE LANGUAGES
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In: DTIC AND NTIS (1970)
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Event generator tunes obtained from underlying event and multiparton scattering measurements.
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