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Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.

Standard

Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds. / Frey, Andreas; Lampert, Angelika; Waldegger, Siegfried; Jeck, Nikola; Waldegger, Petra; Artunc, Ferruh; Seebohm, Guiscard; Lang, Undine E; Kupka, Susan; Pfister, Markus; Hoppe, Julia; Gerloff, Christian; Schaeffeler, Elke; Schwab, Matthias; Lang, Florian.

in: HEARING RES, Jahrgang 214, Nr. 1-2, 1-2, 2006, S. 68-75.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Frey, A, Lampert, A, Waldegger, S, Jeck, N, Waldegger, P, Artunc, F, Seebohm, G, Lang, UE, Kupka, S, Pfister, M, Hoppe, J, Gerloff, C, Schaeffeler, E, Schwab, M & Lang, F 2006, 'Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.', HEARING RES, Jg. 214, Nr. 1-2, 1-2, S. 68-75. <http://www.ncbi.nlm.nih.gov/pubmed/16549283?dopt=Citation>

APA

Frey, A., Lampert, A., Waldegger, S., Jeck, N., Waldegger, P., Artunc, F., Seebohm, G., Lang, U. E., Kupka, S., Pfister, M., Hoppe, J., Gerloff, C., Schaeffeler, E., Schwab, M., & Lang, F. (2006). Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds. HEARING RES, 214(1-2), 68-75. [1-2]. http://www.ncbi.nlm.nih.gov/pubmed/16549283?dopt=Citation

Vancouver

Frey A, Lampert A, Waldegger S, Jeck N, Waldegger P, Artunc F et al. Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds. HEARING RES. 2006;214(1-2):68-75. 1-2.

Bibtex

@article{c9be1c6392f8456ba89b3952b6247574,
title = "Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.",
abstract = "Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting. Recently, we identified the gain-of-function mutation ClC-Kb(T481S) which is associated with increased blood pressure. To explore the impact of ClC-Kb(T481S) on hearing, healthy volunteers (n=329) and individuals suffering from tinnitus (n=246) volunteered for hearing tests (n=348) and genetic analysis (n=575). 19.1% of the individuals were heterozygote (ClC-Kb(T481S)/ClC-Kb) and 1.7% homozygote carriers. Pure tone average hearing threshold (PTAt) for air conduction was significantly (p30 dB (p",
author = "Andreas Frey and Angelika Lampert and Siegfried Waldegger and Nikola Jeck and Petra Waldegger and Ferruh Artunc and Guiscard Seebohm and Lang, {Undine E} and Susan Kupka and Markus Pfister and Julia Hoppe and Christian Gerloff and Elke Schaeffeler and Matthias Schwab and Florian Lang",
year = "2006",
language = "Deutsch",
volume = "214",
pages = "68--75",
journal = "HEARING RES",
issn = "0378-5955",
publisher = "Elsevier",
number = "1-2",

}

RIS

TY - JOUR

T1 - Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.

AU - Frey, Andreas

AU - Lampert, Angelika

AU - Waldegger, Siegfried

AU - Jeck, Nikola

AU - Waldegger, Petra

AU - Artunc, Ferruh

AU - Seebohm, Guiscard

AU - Lang, Undine E

AU - Kupka, Susan

AU - Pfister, Markus

AU - Hoppe, Julia

AU - Gerloff, Christian

AU - Schaeffeler, Elke

AU - Schwab, Matthias

AU - Lang, Florian

PY - 2006

Y1 - 2006

N2 - Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting. Recently, we identified the gain-of-function mutation ClC-Kb(T481S) which is associated with increased blood pressure. To explore the impact of ClC-Kb(T481S) on hearing, healthy volunteers (n=329) and individuals suffering from tinnitus (n=246) volunteered for hearing tests (n=348) and genetic analysis (n=575). 19.1% of the individuals were heterozygote (ClC-Kb(T481S)/ClC-Kb) and 1.7% homozygote carriers. Pure tone average hearing threshold (PTAt) for air conduction was significantly (p30 dB (p

AB - Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting. Recently, we identified the gain-of-function mutation ClC-Kb(T481S) which is associated with increased blood pressure. To explore the impact of ClC-Kb(T481S) on hearing, healthy volunteers (n=329) and individuals suffering from tinnitus (n=246) volunteered for hearing tests (n=348) and genetic analysis (n=575). 19.1% of the individuals were heterozygote (ClC-Kb(T481S)/ClC-Kb) and 1.7% homozygote carriers. Pure tone average hearing threshold (PTAt) for air conduction was significantly (p30 dB (p

M3 - SCORING: Zeitschriftenaufsatz

VL - 214

SP - 68

EP - 75

JO - HEARING RES

JF - HEARING RES

SN - 0378-5955

IS - 1-2

M1 - 1-2

ER -