Search Results - "Erbe, Christy B."

Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss by Runge, Christina L, Indap, Amit, Zhou, Yifan, Kent, Jr, Jack W, King, Ericka, Erbe, Christy B, Cole, Regina, Littrell, Jack, Merath, Kate, James, Roland, Rüschendorf, Franz, Kerschner, Joseph E, Marth, Gabor, Hübner, Norbert, Göring, Harald H H, Friedland, David R, Kwok, Wai-Meng, Olivier, Michael

“…Sensorineural hearing loss (SNHL) is commonly caused by conditions that affect cochlear structures or the auditory nerve, and the genes identified as causing…”
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The Chinchilla Research Resource Database: resource for an otolaryngology disease model by Shimoyama, Mary, Smith, Jennifer R, De Pons, Jeff, Tutaj, Marek, Khampang, Pawjai, Hong, Wenzhou, Erbe, Christy B, Ehrlich, Garth D, Bakaletz, Lauren O, Kerschner, Joseph E

“…The long-tailed chinchilla (Chinchilla lanigera) is an established animal model for diseases of the inner and middle ear, among others. In particular,…”
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Selective acquisition of individual cell types in the vestibular periphery for molecular biology studies by Cristobal, Ricardo, Wackym, P.Ashley, Cioffi, Joseph A., Erbe, Christy B., Popper, Paul

“…To develop a method for characterizing the transcriptome of individual cell types in the inner ear sensory epithelia. We employed the technique of laser…”
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A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder by Runge, Christina L, Erbe, Christy B, McNally, Mark T, Van Dusen, Courtney, Friedland, David R, Kwitek, Anne E, Kerschner, Joseph E

“…We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve…”
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TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad by Guillen‐Ahlers, Hector, Erbe, Christy B., Chevalier, Frédéric D., Montoya, Maria J., Zimmerman, Kip D., Langefeld, Carl D., Olivier, Michael, Runge, Christina L.

“…Background Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy…”
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Mucin gene 19 (MUC19) expression and response to inflammatory cytokines in middle ear epithelium by Kerschner, Joseph E, Khampang, Pawjai, Erbe, Christy B, Kolker, Alexander, Cioffi, Joseph A

“…Mucin gene 19 (MUC19) has been identified as a major gel-forming mucin in the human middle ear (ME). The objectives of this investigation were to characterize…”
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Distribution of two-pore-domain potassium channels in the adult rat vestibular periphery by Popper, Paul, Winkler, John, Erbe, Christy B., Lerch-Gaggl, Alexandara, Siebeneich, Wolfgang, Wackym, P. Ashley

“…Constitutively active background or “leak” two-pore-domain potassium (K +) channels (Kcnk family), as defined by lack of voltage and time dependency are…”
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Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss by Erbe, Christy B., Harris, Kevin C., Runge-Samuelson, Christina L., Flanary, Valerie A., Wackym, Phillip Ashley

“…Objectives/Hypothesis Mutations in the connexin 26 (Cx26) or gap junction beta 2 gene are the leading cause of hereditary nonsyndromic sensorineural hearing…”
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In silico analysis of 2085 clones from a normalized rat vestibular periphery 3' cDNA library by Roche, Joseph P, Wackym, P Ashley, Cioffi, Joseph A, Kwitek, Anne E, Erbe, Christy B, Popper, Paul

“…The inserts from 2400 cDNA clones isolated from a normalized Rattus norvegicus vestibular periphery cDNA library were sequenced and characterized. The…”
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Gene discovery using a human vestibular schwannoma cDNA library constructed from a patient with neurofibromatosis type 2 (NF2) by Halum, Stacey L., Erbe, Christy B., Friedland, David R., Wackym, Phillip A.

“…Background: Despite a strong association of schwannomin/merlin gene mutations with vestibular schwannoma formation, the regulatory mechanisms and biologic…”
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Assessment of differential gene expression in vestibular epithelial cell types using microarray analysis by Cristobal, Ricardo, Wackym, P. Ashley, Cioffi, Joseph A., Erbe, Christy B., Roche, Joseph P., Popper, Paul

“…Current global gene expression techniques allow the evaluation and comparison of the expression of thousands of genes in a single experiment, providing a…”
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A Novel Connexin 26 Compound Heterozygous Mutation Results in Deafness by Harris, Kevin C., Erbe, Christy B., Firszt, Jill B., Flanary, Valerie A., Wackym, Phillip A.

“…Objective Mutations of the gap junction beta 2 (GJB2) gene coding for the protein connexin 26 account for up to 50% of nonsyndromic sensorineural hearing loss…”
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G-protein Golfalpha (GNAL) is expressed in the vestibular end organs and primary afferent neurons of Rattus norvegicus by Wackym, P Ashley, Cioffi, Joseph A, Erbe, Christy B, Popper, Paul

“…Guanine nucleotide binding proteins (G-proteins) play an important role in mediating signals transduced across the cell membrane by membrane-bound receptors…”
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Radiation hybrid mapping of five muscarinic acetylcholine receptor subtype genes in Rattus norvegicus by Tseng, Jeffrey, Erbe, Christy B, Kwitek, Anne E, Jacob, Howard J, Popper, Paul, Wackym, Phillip A

“…Acetylcholine is the main neurotransmitter of the vestibular efferent system and a wide variety of muscarinic and nicotinic acetylcholine receptors are…”
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Expression of G-protein alpha subunit genes in the vestibular periphery of rattus norvegicus and their chromosomal mapping by CIOFFI, Joseph A, ERBE, Christy B, RAPHAEL, Richard, KWITEK, Anne E, TIWARI, Umesh K, JACOB, Howard J, POPPER, Paul, WACKYM, Phillip A

“…Heterotrimeric G-proteins play an important role in mediating signals transduced across the cell membrane by membrane-bound receptors. The precise role of…”
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Molecular characterization of two novel splice variants of G alphai2 in the rat vestibular periphery by Cioffi, Joseph A., Wackym, P. Ashley, Erbe, Christy B., Gaggl, Wolfgang, Popper, Paul

“…GTP binding proteins play an important role in mediating signals transduced across the cell membrane by membrane-bound receptors. We previously described a…”
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Abstract 3009: Evaluating the role of cell cycle inhibition in celecoxib toxicity through microRNA analysis by Heaford, Andrew C., Erbe, Christy B., Bock, Jonathan M.

“…Squamous cell carcinoma of the head and neck (SCCHN) is a major health problem worldwide, with over 45,000 new cases predicted to occur in the United States in…”
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Radiation hybrid mapping of 11 alpha and beta nicotinic acetylcholine receptor genes in Rattus norvegicus by Tseng, Jeffrey, Kwitek-Black, Anne E., Erbe, Christy B., Popper, Paul, Jacob, Howard J., Wackym, Phillip A.

“…Acetylcholine is the main neurotransmitter of the vestibular efferents and a wide variety of muscarinic and nicotinic acetylcholine receptors are expressed in…”
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Expression of G-protein Alpha Subunit Genes in the Vestibular Periphery of Rattus norvegieus and their Chromosomal Mapping by Cioffi, Joseph A., Erbe, Christy B., Raphael, Richard, Kwitek, Anne E., Tiwari, Umesh K., Jacob, Howard J., Popper, Paul, Wackym, Phillip A.

“…Objective-Heterotrimeric G-proteins play an important role in mediating signals transduced across the cell membrane by membrane-bound receptors. The precise…”
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