Search Results - "SEYDEWITZ, H. H"

The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients by Roth, Eva K, Hirtz, Stephanie, Duerr, Julia, Wenning, Daniel, Eichler, Irmgard, Seydewitz, Hans H, Amaral, Margarida D, Mall, Marcus A

“…The identification of strategies to improve mutant CFTR function remains a key priority in the development of new treatments for cystic fibrosis (CF). Previous…”
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CFTR Cl − channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis by Hirtz, Stephanie, Gonska, Tanja, Seydewitz, Hans H., Thomas, Jörg, Greiner, Peter, Kuehr, Joachim, Brandis, Matthias, Eichler, Irmgard, Rocha, Herculano, Lopes, Ana—Isabel, Barreto, Celeste, Ramalho, Anabela, Amaral, Margarida D., Kunzelmann, Karl, Mall, Marcus

“…Background & Aims: Cystic fibrosis (CF) is caused by over 1000 mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene and presents…”
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Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens by DÖRK, T, DWORNICZAK, B, PANDER, H.-J, SPERLING, H, RATJEN, F, PASSARGE, E, SCHMIDTKE, J, STUHRMANN, M, AULEHLA-SCHOLZ, C, WIECZOREK, D, BÖHM, I, MAYEROVA, A, SEYDEWITZ, H. H, NIESCHLAG, E, MESCHEDE, D, HORST, J

“…Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%-2% of male infertility. A high incidence of…”
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Modulation of Ca2+-activated Cl- secretion by basolateral K+ channels in human normal and cystic fibrosis airway epithelia by MALL, Marcus, GONSKA, Tanja, THOMAS, Jörg, SCHREIBER, Rainer, SEYDEWITZ, Hans H, KUEHR, Joachim, BRANDIS, Matthias, KUNZELMANN, Karl

“…Human airway epithelia express Ca2+-activated Cl- channels (CaCC) that are activated by extracellular nucleotides (ATP and UTP). CaCC is preserved and seems to…”
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Role of K(V)LQT1 in cyclic adenosine monophosphate-mediated Cl(-) secretion in human airway epithelia by Mall, M, Wissner, A, Schreiber, R, Kuehr, J, Seydewitz, H H, Brandis, M, Greger, R, Kunzelmann, K

“…Ion transport defects underlying cystic fibrosis (CF) lung disease are characterized by impaired cyclic adenosine monophosphate (cAMP)-dependent Cl(-)…”
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Cholinergic ion secretion in human colon requires coactivation by cAMP by Mall, M, Bleich, M, Schürlein, M, Kühr, J, Seydewitz, H H, Brandis, M, Greger, R, Kunzelmann, K

“…Cl- secretion in the colon can be activated by an increase of either intracellular Ca2+ or cAMP. In this study we examined a possible interdependence of the…”
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Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers by Ramalho, A S, Beck, S, Penque, D, Gonska, T, Seydewitz, H H, Mall, M, Amaral, M D

“…Identification of such products will provide insights into the splicing process and help to validate mathematical models designed to estimate the potential for…”
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Defective cholinergic Cl(-) secretion and detection of K(+) secretion in rectal biopsies from cystic fibrosis patients by Mall, M, Wissner, A, Seydewitz, H H, Kuehr, J, Brandis, M, Greger, R, Kunzelmann, K

“…Rectal biopsies from cystic fibrosis (CF) patients show defective cAMP-activated Cl(-) secretion and an inverse response of the short-circuit current (I(sc))…”
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Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes by Mall, Marcus, Wissner, Andreas, Seydewitz, Hans H, Hübner, Martin, Kuehr, Joachim, Brandis, Matthias, Greger, Rainer, Kunzelmann, Karl

“…The flavonoid genistein has been shown to activate a Cl− conductance in various cell types expressing CFTR. We examined if similar effects can be observed when…”
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Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease by März, W, Seydewitz, H, Winkelmann, B, Chen, M, Nauck, M, Witt, I

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Upper airway inflammation in children exposed to ambient ozone and potential signs of adaptation by Kopp, MV, Ulmer, C, Ihorst, G, Seydewitz, HH, Frischer, T, Forster, J, Kuehr, J

“…In order to investigate nasal inflammation and subsequent adaptation after ambient ozone exposure, nasal lavage (NL) fluid was collected from 170…”
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Pediatric reference ranges for osteocalcin measured by the Immulite analyzer by Seydewitz, H H, Henschen, M, Kühnel, W, Brandis, M

“…Pediatric reference ranges for osteocalcin measured by a new, fully automated, chemiluminescent immunometric assay on the Immulite immunoanalyzer are…”
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Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype by WESTON, B. W, LIN, J.-L, CHEN, Y. T, MUENZER, J, CAMERON, H. S, ARNOLD, R. R, SEYDEWITZ, H. H, MAYATEPEK, E, VAN SCHAFTINGEN, E, VEIGA-DA-CUNHA, M, MATERN, D

“…Glycogen storage disease type 1a (GSD 1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). A variant (GSD 1b) is caused by a defect in…”
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Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations by Seydewitz, Hans H., Matern, Dietrich

“…Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all…”
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Circadian variation of urinary eosinophil protein X in asthmatic and healthy children by VAN'S GRAVESANDE, K. S, MATTES, J, GRÜNTJENS, T, KOPP, M, SEYDEWITZ, H. H, MOSELER, M, KUEHR, J

“…Background It is suggested that urinary eosinophil protein X (EPX) is a noninvasive tool to monitor bronchial inflammation in asthmatic children. However,…”
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Primary treatment of propionic acidemia complicated by acute thiamine deficiency by Matern, Dietrich, Seydewitz, Hans H., Lehnert, Willy, Niederhoff, Helmut, Leititis, Jekabs U., Brandis, Matthias

“…Propionic acidemia is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic coma when catabolism is…”
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Lack of correlation between CFTR expression, CFTR Cl− currents, amiloride-sensitive Na+ conductance, and cystic fibrosis phenotype by Beck, S., Kühr, J., Schütz, V.V., Seydewitz, H.H., Brandis, M., Greger, R., Kunzelmann, K.

“…Cystic fibrosis (CF) is characterized by defective Cl− and enhanced Na+ conductance, both due to malfunction of the cystic fibrosis transmembrane conductance…”
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The ΔF508 mutation results in loss of CFTR function and mature protein in native human colon by Mall, Marcus, Kreda, Silvia M., Mengos, April, Jensen, Timothy J., Hirtz, Stephanie, Seydewitz, Hans H., Yankaskas, James, Kunzelmann, Karl, Riordan, John R., Boucher, Richard C.

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A novel missense mutation, S1159F, in exon 19 of the CFTR gene by Seydewitz, Hans Hermann, Mall, Marcus, Kuehr, Joachim

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A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene by Seydewitz, Hans Hermann, Gonska, Tanja, Mall, Marcus, Kueh, Joachim

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