Search Results - "Jentsch, TJ"

Neuronal KCNQ potassium channels: physiology and role in disease by Jentsch, T J

“…Humans have over 70 potassium channel genes, but only some of these have been linked to disease. In this respect, the KCNQ family of potassium channels is…”
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Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness by Kharkovets, Tatjana, Dedek, Karin, Maier, Hannes, Schweizer, Michaela, Khimich, Darina, Nouvian, Régis, Vardanyan, Vitya, Leuwer, Rudolf, Moser, Tobias, Jentsch, Thomas J

“…KCNQ4 is an M‐type K+ channel expressed in sensory hair cells of the inner ear and in the central auditory pathway. KCNQ4 mutations underlie human DFNA2…”
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Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel by Dedek, Karin, Kunath, Bernhard, Kananura, Colette, Reuner, Ulrike, Jentsch, Thomas J., Steinlein, Ortrud K.

“…KCNQ2 and KCNQ3 are two homologous K+channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels…”
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A Potassium Channel Mutation in Neonatal Human Epilepsy by Biervert, Christian, Schroeder, Björn C., Kubisch, Christian, Berkovic, Samuel F., Propping, Peter, Jentsch, Thomas J., Steinlein, Ortrud K.

“…Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional…”
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KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness by Kubisch, Christian, Schroeder, Björn C, Friedrich, Thomas, Lütjohann, Björn, El-Amraoui, Aziz, Marlin, Sandrine, Petit, Christine, Jentsch, Thomas J

“…Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the…”
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KCNQ5, a Novel Potassium Channel Broadly Expressed in Brain, Mediates M-type Currents by Schroeder, Björn C., Hechenberger, Mirko, Weinreich, Frank, Kubisch, Christian, Jentsch, Thomas J.

“…KCNQ2 and KCNQ3, both of which are mutated in a type of human neonatal epilepsy, form heteromeric potassium channels that are expressed in broad regions of the…”
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Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins by Zdebik, Anselm A, Scheel, Olaf, Lourdel, Stéphane, Jentsch, Thomas J

“…Eukaryotic members of the CLC gene family function as plasma membrane chloride channels, or may provide neutralizing anion currents for V-type H+-ATPases that…”
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ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function by Lange, Philipp F, Fuhrmann, Jens C, Jentsch, Thomas J, Wartosch, Lena

“…Mutations in ClC-7, a late endosomal/lysosomal member of the CLC family of chloride channels and transporters, cause osteopetrosis and lysosomal storage…”
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Molecular Structure and Physiological Function of Chloride Channels by Jentsch, Thomas J, Stein, Valentin, Weinreich, Frank, Zdebik, Anselm A

“…Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Hamburg, Germany Jentsch, Thomas J., Valentin Stein, Frank Weinreich, and Anselm A. Zdebik…”
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Loss of the CIC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man by Kornak, U, Kasper, D, Boesl, M R, Kaiser, E, Schweizer, M, Schulz, A, Friedrich, W, Delling, G, Jentsch, T J

“…Chloride channels play important roles in the plasma membrane and in intracellular organelles. Mice deficient for the ubiquitously expressed CIC-7 CI super(-)…”
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Chloride transport in the kidney : Lessons from human disease and knockout mice by JENTSCH, Thomas J

“…Knockout mouse models and human inherited diseases have provided important new insights into the physiologic role of chloride transport by CLC Cl(-) channels…”
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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration by Kasper, Dagmar, Planells-Cases, Rosa, Fuhrmann, Jens C, Scheel, Olaf, Zeitz, Oliver, Ruether, Klaus, Schmitt, Anja, Poët, Mallorie, Steinfeld, Robert, Schweizer, Michaela, Kornak, Uwe, Jentsch, Thomas J

“…ClC‐7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H+‐ATPases in acidifying the resorption lacuna. In mice and…”
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Ion channels: Function unravelled by dysfunction by Jentsch, Thomas J, Hübner, Christian A, Fuhrmann, Jens C

“…Ion channels allow the passage of specific ions and electrical charge. Plasma membrane channels are, for example, important for electrical excitability and…”
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Barttin is a Cl - channel β-subunit crucial for renal Cl - reabsorption and inner ear K + secretion by Jentsch, Thomas J, Estévez, Raúl, Boettger, Thomas, Stein, Valentin, Birkenhäger, Ralf, Otto, Edgar, Hildebrandt, Friedhelm

“…Renal salt loss in Bartter's syndrome is caused by impaired transepithelial transport in the loop of Henle. Sodium chloride is taken up apically by the…”
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Disruption of KCC2 Reveals an Essential Role of K-Cl Cotransport Already in Early Synaptic Inhibition by Hübner, Christian A., Stein, Valentin, Hermans-Borgmeyer, Irm, Meyer, Torsten, Ballanyi, Klaus, Jentsch, Thomas J.

“…Synaptic inhibition by GABAA and glycine receptors, which are ligand-gated anion channels, depends on the electrochemical potential for chloride. Several…”
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Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models by Jentsch, Thomas J, Poët, Mallorie, Fuhrmann, Jens C, Zdebik, Anselm A

“…The CLC gene family encodes nine different Cl() channels in mammals. These channels perform their functions in the plasma membrane or in intracellular…”
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CLC chloride channels and transporters by Jentsch, Thomas J, Neagoe, Ioana, Scheel, Olaf

“…CLC proteins are found in cells from prokaryotes to mammals and perform functions in plasma membranes and intracellular vesicles. Several genetic human…”
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Chloride channel diseases resulting from impaired transepithelial transport or vesicular function by Jentsch, Thomas J, Maritzen, Tanja, Zdebik, Anselm A

“…The transport of anions across cellular membranes is crucial for various functions, including the control of electrical excitability of muscle and nerve,…”
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Disruption of CIC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus by Stobrawa, SM, Breiderhoff, T, Takamori, S, Engel, Dominique, Schweizer, M, Zdebik, A, Bösl, MR, Ruether, K, Jahn, H, Jentsch, TJ

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Ion channel diseases by Hübner, Christian A., Jentsch, Thomas J.

“…Ion channels serve many functions apart from electrical signal transduction: chemical signalling (Ca2+ as a second messenger), transepithelial transport,…”
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