Search Results - Kaiser, Frank J.

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  1. 1
    Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

    Cornelia de Lange Syndrome as Paradigm of Chromatinopathies by Parenti, Ilaria, Kaiser, Frank J.

    Published 2021
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  2. 2
    TRα2—An Untuned Second Fiddle or Fine-Tuning Thyroid Hormone Action?

    TRα2—An Untuned Second Fiddle or Fine-Tuning Thyroid Hormone Action? by Hönes, Georg Sebastian, Härting, Nina, Mittag, Jens, Kaiser, Frank J.

    Published 2022
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  3. 3
    Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

    Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome by Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J., Wasag, Bartosz

    Published 2018
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  4. 4
    The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

    The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications by Jahnke, Philipp, Xu, Weizhen, Wülling, Manuela, Albrecht, Melanie, Gabriel, Heinz, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

    Published 2008
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  5. 5
    A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells

    A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells by Gavvovidis, Ioannis, Rost, Isabell, Trimborn, Marc, Kaiser, Frank J., Purps, Josephine, Wiek, Constanze, Hanenberg, Helmut, Neitzel, Heidemarie, Schindler, Detlev

    Published 2012
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  6. 6
    Evidence for correlations between BMI-associated SNPs and circRNAs

    Evidence for correlations between BMI-associated SNPs and circRNAs by Rajcsanyi, Luisa Sophie, Diebels, Inga, Pastoors, Lydia, Kanber, Deniz, Peters, Triinu, Volckmar, Anna-Lena, Zheng, Yiran, Grosse, Martin, Dieterich, Christoph, Hebebrand, Johannes, Kaiser, Frank J., Horsthemke, Bernhard, Hinney, Anke

    Published 2022
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  7. 7
    Further evidence for POMK as candidate gene for WWS with meningoencephalocele

    Further evidence for POMK as candidate gene for WWS with meningoencephalocele by Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma

    Published 2020
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  8. 8
    mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

    mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lan... by Puisac, Beatriz, Teresa-Rodrigo, María-Esperanza, Hernández-Marcos, María, Baquero-Montoya, Carolina, Gil-Rodríguez, María-Concepción, Visnes, Torkild, Bot, Christopher, Gómez-Puertas, Paulino, Kaiser, Frank J., Ramos, Feliciano J., Ström, Lena, Pié, Juan

    Published 2017
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  9. 9
    Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element

    Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element by Zuin, Jessica, Casa, Valentina, Pozojevic, Jelena, Kolovos, Petros, van den Hout, Mirjam C. G. N., van Ijcken, Wilfred F. J., Parenti, Ilaria, Braunholz, Diana, Baron, Yorann, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

    Published 2017
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  10. 10
    Coronary Heart Disease-Associated Variation in TCF21 Disrupts a miR-224 Binding Site and miRNA-Mediated Regulation

    Coronary Heart Disease-Associated Variation in TCF21 Disrupts a miR-224 Binding Site and miRNA-Mediated Regulation by Miller, Clint L., Haas, Ulrike, Diaz, Roxanne, Leeper, Nicholas J., Kundu, Ramendra K., Patlolla, Bhagat, Assimes, Themistocles L., Kaiser, Frank J., Perisic, Ljubica, Hedin, Ulf, Maegdefessel, Lars, Schunkert, Heribert, Erdmann, Jeanette, Quertermous, Thomas, Sczakiel, Georg

    Published 2014
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  11. 11
    Clinical utility gene card for: Cornelia de Lange syndrome

    Clinical utility gene card for: Cornelia de Lange syndrome by Ramos, Feliciano J, Puisac, Beatriz, Baquero-Montoya, Carolina, Gil-Rodríguez, Ma Concepción, Bueno, Inés, Deardorff, Matthew A, Hennekam, Raoul C, Kaiser, Frank J, Krantz, Ian D, Musio, Antonio, Selicorni, Angelo, FitzPatrick, David R, Pié, Juan

    Published 2015
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  12. 12
    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes by Latorre-Pellicer, Ana, Ascaso, Ángela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antoñanzas-Pérez, Rebeca, Marcos-Alcalde, Iñigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J., Ramos, Feliciano J., Gómez-Puertas, Paulino, Pié, Juan

    Published 2020
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  13. 13
    Functional characterization of the GUCY1A3 coronary artery disease risk locus

    Functional characterization of the GUCY1A3 coronary artery disease risk locus by Kessler, Thorsten, Wobst, Jana, Wolf, Bernhard, Eckhold, Juliane, Vilne, Baiba, Hollstein, Ronja, von Ameln, Simon, Dang, Tan An, Sager, Hendrik B., Rumpf, Philipp Moritz, Aherrahrou, Redouane, Kastrati, Adnan, Björkegren, Johan L.M., Erdmann, Jeanette, Lusis, Aldons J., Civelek, Mete, Kaiser, Frank J., Schunkert, Heribert

    Published 2017
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  14. 14
    New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

    New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3) by Domingo, Aloysius, Westenberger, Ana, Lee, Lillian V, Brænne, Ingrid, Liu, Tian, Vater, Inga, Rosales, Raymond, Jamora, Roland Dominic, Pasco, Paul Matthew, Cutiongco-dela Paz, Eva Maria, Freimann, Karen, Schmidt, Thomas GPM, Dressler, Dirk, Kaiser, Frank J, Bertram, Lars, Erdmann, Jeanette, Lohmann, Katja, Klein, Christine

    Published 2015
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  15. 15
    Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

    Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction by Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

    Published 2012
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  16. 16
    Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

    Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction by Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

    Published 2012
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  17. 17
    Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

    Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome by Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C., Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C., Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H., Ramos, Feliciano J., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J., Pié, Juan

    Published 2014
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  18. 18
    Identification and functional analysis of novel THAP1 mutations

    Identification and functional analysis of novel THAP1 mutations by Lohmann, Katja, Uflacker, Nils, Erogullari, Alev, Lohnau, Thora, Winkler, Susen, Dendorfer, Andreas, Schneider, Susanne A, Osmanovic, Alma, Svetel, Marina, Ferbert, Andreas, Zittel, Simone, Kühn, Andrea A, Schmidt, Alexander, Altenmüller, Eckart, Münchau, Alexander, Kamm, Christoph, Wittstock, Matthias, Kupsch, Andreas, Moro, Elena, Volkmann, Jens, Kostic, Vladimir, Kaiser, Frank J, Klein, Christine, Brüggemann, Norbert

    Published 2012
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  19. 19
    HACE1 deficiency leads to structural and functional neurodevelopmental defects

    HACE1 deficiency leads to structural and functional neurodevelopmental defects by Nagy, Vanja, Hollstein, Ronja, Pai, Tsung-Pin, Herde, Michel K., Buphamalai, Pisanu, Moeseneder, Paul, Lenartowicz, Ewelina, Kavirayani, Anoop, Korenke, Georg Christoph, Kozieradzki, Ivona, Nitsch, Roberto, Cicvaric, Ana, Monje Quiroga, Francisco J., Deardorff, Matthew A., Bedoukian, Emma C., Li, Yun, Yigit, Gökhan, Menche, Jörg, Perçin, E. Ferda, Wollnik, Bernd, Henneberger, Christian, Kaiser, Frank J., Penninger, Josef M.

    Published 2019
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  20. 20
    Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

    Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood by Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan

    Published 2021
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