Results 101 to 110 of about 6,585 (184)

In vitro effect of nicorandil on the carbachol-induced contraction of the lower esophageal sphincter of the rat

Journal of Pharmacological Sciences, 2016
The lower esophageal sphincter (LES) is a specialized region of the esophageal smooth muscle that allows the passage of a swallowed bolus into the stomach. Nitric oxide (NO) plays a major role in LES relaxation.
Tomonori Shimbo, Takeshi Adachi, Susumu Fujisawa, Mai Hongoh, Takayoshi Ohba, Kyoichi Ono   +5 more
doaj   +1 more source

Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations

Journal of Genetic Medicine, 2016
Cantu syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis,...
Jin Hee Jang, Jung Min Ko, Sei Won Yang, Jong Hee Chae, Eun Jung Bae   +4 more
openaire   +2 more sources

Functional Consequences of Cantu Syndrome Associated Mutations in the ATP Sensitive Potassium Channel

, 2015
ATP-sensitive potassium (KATP) channels are composed of inward-rectifying potassium channel pore-forming subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor subunits (SUR1 and SUR2, encoded by ...
Cooper, Paige
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Cantú Syndrome Associated with Ovarian Agenesis

, 2017
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities.
Manolakos, E., Psoni, S., Lüdecke, H.-J., Amenta, S., Sofocleous, C., Fryssira, H., Czeschik, J.-C., Tsoutsou, E., Gavra, M.   +8 more
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Cantu syndrome-Associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-offunction by differential mechanisms

, 2018
The complex disorder Cantu syndrome (CS) arises from gainof-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (KATP) channels, respectively. Recent reports indicate that such mutations
Dragana Josifova, Dorothy K. Grange, Josifova, Dragana, Colin G. Nichols, Van Haaften, Gijs, Monica Sala-Rabanal, Roessler, Helen I., McClenaghan, Conor, Grange, Dorothy K., Nichols, Colin G., Helen I. Roessler, Conor McClenaghan, Sala-Rabanal, Monica, Alex Hanson, Hanson, Alex, Gijs van Haaften   +15 more
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Comprehensive pharmacogenomic study reveals an important role of UGT1A3 in montelukast pharmacokinetics [PDF]

, 2017
To identify the genetic basis of interindividual variability in montelukast exposure, we determined its pharmacokinetics and sequenced 379 pharmacokinetic genes in 191 healthy volunteers.
Vesa Kärjä, Kärjä, Vesa, Ville T. Männistö, Neuvonen, Mikko, Tapaninen, Tuija, Tornio, Aleksi, Hirvensalo, Päivi, Mikko Niemi, Mikko Neuvonen, Niemi, Mikko, Jussi Pihlajamäki, Paile-Hyvärinen, Maria, Aleksi Tornio, Janne T. Backman, Päivi Hirvensalo, Männistö, Ville T., Backman, Janne T., Tuija Tapaninen, Maria Paile-Hyvärinen, Pihlajamäki, Jussi   +19 more
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ATP sensitive potassium channels in the skeletal muscle functions : involvement of the KCNJ11(Kir6.2) gene in the determination of Warner Bratzer shear force

Frontiers in Physiology, 2016
The ATP-sensitive K+-channels (KATP) are distributed in the tissues coupling metabolism with K+ ions efflux. KATP subunits are encoded by KCNJ8 (Kir6.1), KCNJ11 (Kir6.2), ABCC8 (SUR1) and ABCC9 (SUR2) genes, alternative RNA splicing give rise to SUR ...
Domenico eTricarico, Maria eSelvaggi, Giuseppe ePassantino, Pasquale eDe Palo, Dario eCataldo, Pasquale eCentoducati, Alessandra eTateo, Angela eCurci, Fatima eMaquod, Antonietta eMele, Giulia Maria eCamerino, Antonella eLiantonio, Paola eImbrici, Nicola eZizzo   +13 more
doaj   +1 more source

Cantu Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

, 2014
Item does not contain fulltextATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded ...
Woelfle, J., Nichols, C.G., Hoischen, A., Haaften, G. van, Reutter, H., Grange, D.K., Bon, B.W.M. van, Engels, H., Cooper, P.E.   +8 more
core   +1 more source

A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila [PDF]

, 2011
Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that the length of sleep is adaptive.
M Teder-Laving, Esko, T, Müller-Myhsok, B., Melville, S.A., van Mill, J., Wilson, Julian, Green, E.W.,, Oostra, B. A., Esko, T.,, Merrow, M.,, Amin, N.,, Amin, Najaf, Kyriacou, C. P., Green, EW, N Vogelzangs, Janssens, Cecile, Wichmann, H.-E., Melville, S.A.,, C Hayward, van Duijn, C. M., van Duijn, C.M., Penninx, B.,, Duijn, C.M. van, Oostra, B., K V Allebrandt, B Penninx, Wilson, J. F., Teder-Laving, M., Merrow, M., Hayward, C., Hicks, A. A., T Meitinger, J van Mill, Penninx, B, Duijn, C.M. van,, H Campbell, Campbell, H, A C J W Janssens, I Rudan, Meitinger, T.,, P P Pramstaller, Meitinger, T, Muller-Myhsok, B, Lichtner, P., Melville, S., J F Wilson, Janssens, A. C. J. W., Campbell, H.,, Esko, T., Meitinger, T., Hicks, A., Rudan, I.,, Pramstaller, P. P., Hicks, A.A., E W Green, A A Hicks, Z Dogas, Janssens, A.C.J.W., Pramstaller, P.P.,, Melville, SA, Azevedo, R.V.D.M., Hicks, AA, Azevedo, R.V.D.M.,, Wichmann, H-E, B Müller-Myhsok, Kyriacou, C.P., Allebrandt, KV, Amin, N., Azevedo, R.V., Vogelzangs, N.,, Oostra, B.A., Roenneberg, T.,, Green, E. W., P Lichtner, R V D M Azevedo, Lichtner, P, Allebrandt, K.V., Teder-Laving, M.,, Roenneberg, T., Janssens, A., Mueller-Myhsok, B., Kyriacou, CP, Mill, J. van,, Oostra, Ben, H-E Wichmann, Janssens, A.C.J.W.,, Mill, J. van, Azevedo, R. V. D. M., Wilson, J.F., Penninx, B.W.J.H., Dogas, Z.,, Dogas, Z, Rudan, I., Merrow, Martha, Azevedo, RVDM, van Duijn, C., Azevedo, R., Penninx, B., Merrow, M, Dogas, Z., van Mill, J.G., Müller-Myhsok, B.,, Wilson, JF, M Merrow, Vogelzangs, N., Melville, S. A., Duijn, Cornelia, Wichmann, H.-E.,, B A Oostra, Allebrandt, K., C M van Duijn, Kyriacou, C., Rudan, I, T Esko, van Mill, J, C P Kyriacou, Campbell, H., T Roenneberg, Wichmann, HE, Green, E.W., Janssens, A.C., Hayward, C.,, Metspalu, A., A Metspalu, Wilson, J., Pramstaller, PP, Wichmann, H., Allebrandt, K.V.,, Hicks, A.A.,, Hayward, C, Metspalu, A.,, S A Melville, Oostra, B.A.,, Metspalu, A, Kyriacou, C.P.,, Allebrandt, K. V., Wichmann, H. E., Green, E., Pramstaller, P., Roenneberg, T, Wilson, J.F.,, Vogelzangs, N, Lichtner, P.,, Teder-Laving, M, Pramstaller, P.P., N Amin   +145 more
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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

, 2013
KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden ...
Agrawal, Pankaj B., Luquette, Lovelace J., Harris, David J., Brownstein, Catherine A., Meinecke, Peter, Campeau, Philippe M., Beggs, Alan H., Marinakis, Nicholas S., Towne, Meghan C., Margulies, David M., Kutsche, Kerstin, Yu, Timothy W.   +11 more
core   +1 more source