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428 results on '"Sticht H"'

1. Corrigendum.

Author

Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, and Jamra, R

Subjects
Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

In the original version of this article, authors Jill L. Silverman and Stephen W. Scherer were listed with incorrect affiliations; this has now been corrected.

Published
2019

2. Confidence Intervals for the Mutual Information

Author

Stefani, A. G., Huber, J. B., Jardin, C., and Sticht, H.

Subjects
Computer Science - Information Theory
Abstract

By combining a bound on the absolute value of the difference of mutual information between two joint probablity distributions with a fixed variational distance, and a bound on the probability of a maximal deviation in variational distance between a true joint probability distribution and an empirical joint probability distribution, confidence intervals for the mutual information of two random variables with finite alphabets are established. Different from previous results, these intervals do not need any assumptions on the distribution and the sample size., Comment: 5 pages, 2 figure

Published
2013

3. A Tight Lower Bound on the Mutual Information of a Binary and an Arbitrary Finite Random Variable in Dependence of the Variational Distance

Author

Stefani, A. G., Huber, J. B., Jardin, C., and Sticht, H.

Subjects
Computer Science - Information Theory
Abstract

In this paper a numerical method is presented, which finds a lower bound for the mutual information between a binary and an arbitrary finite random variable with joint distributions that have a variational distance not greater than a known value to a known joint distribution. This lower bound can be applied to mutual information estimation with confidence intervals., Comment: 4 pages, 3 figures

Published
2013

9. Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype

Author

Zanoni, P., Steindl, K., Sengupta, D., Sticht, H., Joset, P., Baar, A., van Ravenswaaij-Arts, C. M. A., Shinawi, M., Maystadt, I., Belnap, N., Benoit, V., de Vries, B. B. A., Lacombe, D., Larson, A., Pfundt, R., Ramsey, K., Blok, L. Snijders, Wheeler, P. G., Wevers, M. R., Gozani, O., Rauch, A., and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Published
2020

10. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), and Zweier, C. (Christiane)

Subjects
Drosophila melanogaster, intellectual disability, neurodevelopmental disorders, CTCF, chromatin organization
Abstract

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. Results: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. Conclusion: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.

Published
2019

14. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Author

Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., and Anita Rauch

Subjects
Male, Models, Molecular, Candidate gene, Cytoplasm, Biology, Article, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Intron, Protein primary structure, Facies, Infant, medicine.disease, Phenotype, Exon skipping, Child, Preschool, CYFIP2, Mutation, Female
Abstract

CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harboring a variety of de novo variants in CYFIP2 broadening the molecular and clinical spectrum of a novel CYFIP2-related neurodevelopmental disorder. Using trio whole-exome or -genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia. We detected seven different missense variants, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)), and a splice donor variant in the last intron for which we showed exon skipping in the transcript. The latter is expected to escape nonsense-mediated mRNA decay resulting in a truncated protein. Despite the large spacing in the primary structure, the variants spatially cluster in the tertiary structure and are all predicted to weaken the interaction with WAVE1 or NCKAP1 of the actin polymerization regulating WRC-complex. Preliminary genotype-phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations. This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.

Published
2019

16. POSITIONAL CLONING OF THE CMT2B2 GENE AND ITS IMPLICATIONS FOR CMT1A

Author

Rautenstrauss, B, Leal, A, Huehne, K, Bauer, F, Sticht, H, Berger, P, Suter, U, Ekici, A, Pasutto, F, Endele, S, Saifi, M, Lupski, J R, Morera, B, Del Valle, G, Barrantes, R, Heuss, D, Berghoff, C, Berghoff, M, Neundörfer, B, Uhlmann, T, Meisterernst, M, Sereda, M W, zu Horste, G M, Nave, K-A, and Reis, A

Published
2005

20. The genetic basis for most patients with pustular skin disease remains elusive

Author

Mössner, R., primary, Wilsmann-Theis, D., additional, Oji, V., additional, Gkogkolou, P., additional, Löhr, S., additional, Schulz, P., additional, Körber, A., additional, Prinz, J.C., additional, Renner, R., additional, Schäkel, K., additional, Vogelsang, L., additional, Peters, K.-P., additional, Philipp, S., additional, Reich, K., additional, Ständer, H., additional, Jacobi, A., additional, Weyergraf, A., additional, Kingo, K., additional, Kõks, S., additional, Gerdes, S., additional, Steinz, K., additional, Schill, T., additional, Griewank, K. G., additional, Müller, M., additional, Frey, S., additional, Ebertsch, L., additional, Uebe, S., additional, Sticherling, M., additional, Sticht, H., additional, and Hüffmeier, U., additional

Published
2018
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21. The chemical class of quinazoline compounds provides a core structure for the design of anticytomegaloviral kinase inhibitors

Author

Hutterer, C., primary, Hamilton, S., additional, Steingruber, M., additional, Zeitträger, I., additional, Bahsi, H., additional, Thuma, N., additional, Naing, Z., additional, Örfi, Z., additional, Örfi, L., additional, Socher, E., additional, Sticht, H., additional, Rawlinson, W., additional, Chou, S., additional, Haupt, V.J., additional, and Marschall, M., additional

Published
2016
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23. Biochemische überwachung

Author

Richter, R., Campana, A., Heinzl, S., Martens, M., Eppenberger, U., Jovanovic, V., Rauskolb, R., Fuhrmann, W., Haas-Andela, H., Bleyl, H., Schach, S., Bellmann, O., Lang, N., Brockerhoff, P., Friedberg, V., Rathgen, G. H., Schicketanz, K. H., Riedel, H., Eisenbach, G. M., Jacobitz, K., Haeckel, R., Arnold, H. P., Rauskolb, R., Jovanovic, V., Dame, W. R., Beckmann, M., Quakernach, K., Maas, D. H. A., Hoppe, B., Weitzel, H., Melchert, F., Kreienberg, R., Schulz-Clasen, A., Wiggers, G., Trams, G., Geibel, W., Rindt, W., Becker, H., Krieglsteiner, P., Lohninger, A., Haas, S., Wriedt-Lübbe, I., Blümel, G., Rummel, W., Schwenk, H. U., Diedrich, K., Roth, G., Krebs, D., Diedrich, K., Welker, H., Hepp, S., Krebs, D., Herbst, J., Wickings, E. J., Dame, W. R., Quakernack, K., Nieschlag, E., Lorenz, U., Rüttgers, H., Kubli, F., Lohninger, A., Krieglsteiner, P., Erhardt, W., Riedl, W., Neiss, A., Blümel, G., Breinl, H., Meinen, K., Schmidt, E. W., Kynast, G., Saling, E., Distler, W., Tigges, J., Terinde, R., Claussen, U., Ollmann, U., Heinrich, D., Boos, R., Mittmann, U., Muliawan, D., Rüttgers, H., Kubli, F., Winter, R., Weiß, P. A. M., Wiesner, F., Gerner, R., Bartholmes, A., Volk, M., Brackebusch, H. -D., Wiedemann, M., Peters, F. D., Nothjunge, J., Roemer, V. M., Mund-Hoym, S., Schlebusch, H., Niesen, M., Weiß, H., Paulussen, F., Schander, K., Möller, C. P., Carstensen, M., Diedrich, K., Czygan, P. J., Schuhmann, R., Halberstadt, E., Offenloch, R., v. Maillot, K., Brather, R., Deeg, K. -H., Pahnke, V. G., Lehmann, F., Roth, G., Wolf, A. S., Musch, K., Lehmann, W. D., Rauskolb, R., Jovanovic, V., Mühlenstedt, D., Wix, P., Wickings, J., Schneider, H. P. G., Gerhard, I., Klinga, K., Runnebaum, B., Rüttgers, H., Göser, R., Frey, W., Goldschmid, S., Zubke, W., Keller, E., Schindler, A. E., Duenhoelter, J. H., Whalley, P. J., von Holst, Th., Klinga, K., Runnebaum, B., Eiermann, W., Link, A., Vetter, K., Keller, P. J., Kunz, J., Künzig, H. J., Kuhn, H., Reck, G., Nowostawskyj, H., Noss, U., Breckwoldt, M., Berg, R., Kaiser, R., Sticht, H., Wolff, F., Lehmann, W. D., Wolf, A. S., and Lauritzen, Ch.

Published
1979
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24. Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Author

Sighart, R., Rech, J., Hueber, A., Blank, N., Löhr, S., Reis, A., Sticht, H., and Hüffmeier, U.

Subjects
STILL'S disease, FAMILIAL Mediterranean fever, AUTOIMMUNE diseases, SYMPTOMS, GENE expression, TUMOR necrosis factor receptors, DIAGNOSIS
Abstract

Objective: Adult onset Still's disease (AOSD) is a severe, autoimmune disease that can be challenging to treat with conventional therapeutics and biologicals in a considerable number of cases. Therefore, there is a high need to understand its pathogenesis better. As major clinical symptoms overlap between AOSD and hereditary periodic fever syndromes (HPFS), we analysed four known HPFS genes in AOSD. Methods: We performed Sanger sequencing and quantitative analysis of all coding regions of MEFV, TNFRSF1A, MVK and NLRP3 in 40 AOSD patients. All rare coding variants ( n = 6) were evaluated for several aspects to classify them as benign to pathogenic variants. Statistical analysis was performed to analyse whether variants classified as (likely) pathogenic were associated with AOSD. Results: We identified three rare variants in MEFV, one previously not described. Association to the three likely pathogenic MEFV variants was significant ( p = 2.34E− 03), and two of the three carriers had a severe course of disease. We observed strong evidence for significant association to mutations in TNFRSF1A ( p = 2.40E− 04), as 5% of patients (2/40) carried a (likely) pathogenic variant in this gene. Both of them received a biological for treatment. Conclusion: Our results indicate TNFRSF1A as a relevant gene in AOSD, especially in patients with a more challenging course of disease, while causal variants remain to be identified in the majority of patients. [ABSTRACT FROM AUTHOR]

Published
2018
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25. Nuclear import of isoforms of the cytomegalovirus kinase pUL97 is mediated by differential activity of NLS1 and NLS2 both acting through classical importin-alpha binding

Author

Webel, R., Solbak, S.M.O., Held, C., Milbradt, J., Gross, A., Eichler, J., Wittenberg, T., Jardin, C., Sticht, H., Fossen, T., Marschall, M., and Publica

Abstract

The multifunctional protein kinase pUL97 of human cytomegalovirus (HCMV) strongly determines the efficiency of virus replication. Previously, the existence of two pUL97 isoforms that arise from alternative translational initiation and show a predominant nuclear localization was described. Two bipartite nuclear localization sequences, NLS1 and NLS2, were identified in the N terminus of the large isoform, whilst the small isoform exclusively contained NLS2. The current study found the following: (i) pUL97 nuclear localization in HCMV-infected primary fibroblasts showed accumulations in virus replication centres and other nuclear sections; (ii) in a quantitative evaluation system for NLS activity, the large isoform showed higher efficiency of nuclear translocation than the small isoform; (iii) NLS1 was mapped to aa 6-35 and NLS2 to aa 190-213; (iv) using surface plasmon resonance spectroscopy, the binding of both NLS1 and NLS2 to human importin-a was demonstrated, stressing the importance of individual arginine residues in the bipartite consensus motifs; (v) nuclear magnetic resonance spectroscopy of pUL97 peptides confirmed an earlier statement about the functional requirement of NLS1 embedding into an intact a-helical structure; and (vi) a bioinformatics investigation of the solvent-accessible surface suggested a high accessibility of NLS1 and an isoform-specific, variable accessibility of NLS2 for interaction with importin-a. Thus, the nucleocytoplasmic transport mechanism of the isoforms appeared to be differentially regulated, and this may have consequences for isoform-dependent functions of pUL97 during virus replication.

Published
2012

28. Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

Author

Kessler, K, primary, Falk, N, additional, Wunderlich, I, additional, Fröhlich, M, additional, Hauer, N, additional, Gießl, A, additional, Brandstätter, JH, additional, Sticht, H, additional, Ekici, AB, additional, Uebe, S, additional, Seemanová, E, additional, Reis, A, additional, Roepman, R, additional, and Thiel, C, additional

Published
2015
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30. Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

Author

Havlicek, S., primary, Kohl, Z., additional, Mishra, H. K., additional, Prots, I., additional, Eberhardt, E., additional, Denguir, N., additional, Wend, H., additional, Plotz, S., additional, Boyer, L., additional, Marchetto, M. C. N., additional, Aigner, S., additional, Sticht, H., additional, Groemer, T. W., additional, Hehr, U., additional, Lampert, A., additional, Schlotzer-Schrehardt, U., additional, Winkler, J., additional, Gage, F. H., additional, and Winner, B., additional

Published
2013
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32. Structural insight into the giant calcium-binding adhesin SiiE: implications for the adhesion of Salmonella enterica to polarized epithelial cells

Author

Griessl, M.H., primary, Schmid, B., additional, Kassler, K., additional, Braunsmann, C., additional, Ritter, R., additional, Barlag, B., additional, Sturm, K.U., additional, Danzer, C., additional, Wagner, C., additional, Schaeffer, T.E., additional, Sticht, H., additional, Hensel, M., additional, and Muller, Y.A., additional

Published
2013
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33. Functional Null Mutations in the Gonosomal Homologue Gene TBL1Y are Associated with Non-Syndromic Coarctation of the Aorta

Author

Tagariello, A., primary, Breuer, C., additional, Birkner, Y., additional, Schmidt, S., additional, Koch, A.M., additional, Cesnjevar, R., additional, Ruffer, A., additional, Dittrich, S., additional, Schneider, H., additional, Winterpacht, A., additional, Sticht, H., additional, Dotsch, J., additional, and Toka, O., additional

Published
2012
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34. Variants in ASB10 are associated with open-angle glaucoma

Author

Pasutto, F., primary, Keller, K. E., additional, Weisschuh, N., additional, Sticht, H., additional, Samples, J. R., additional, Yang, Y.-F., additional, Zenkel, M., additional, Schlotzer-Schrehardt, U., additional, Mardin, C. Y., additional, Frezzotti, P., additional, Edmunds, B., additional, Kramer, P. L., additional, Gramer, E., additional, Reis, A., additional, Acott, T. S., additional, and Wirtz, M. K., additional

Published
2011
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36. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

Author

Templin, C., primary, Ghadri, J.-R., additional, Rougier, J.-S., additional, Baumer, A., additional, Kaplan, V., additional, Albesa, M., additional, Sticht, H., additional, Rauch, A., additional, Puleo, C., additional, Hu, D., additional, Barajas-Martinez, H., additional, Antzelevitch, C., additional, Luscher, T. F., additional, Abriel, H., additional, and Duru, F., additional

Published
2011
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38. Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Author

Ekici, A.B., primary, Hilfinger, D., additional, Jatzwauk, M., additional, Thiel, C.T., additional, Wenzel, D., additional, Lorenz, I., additional, Boltshauser, E., additional, Goecke, T.W., additional, Staatz, G., additional, Morris-Rosendahl, D.J., additional, Sticht, H., additional, Hehr, U., additional, Reis, A., additional, and Rauch, A., additional

Published
2010
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