Search Results - "Kaiser, Frank J."

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement by Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.

“…Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper…”
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Cornelia de Lange Syndrome as Paradigm of Chromatinopathies by Parenti, Ilaria, Kaiser, Frank J.

“…Chromatinopathies can be defined as a class of neurodevelopmental disorders caused by mutations affecting proteins responsible for chromatin remodeling and…”
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RAD21 Mutations Cause a Human Cohesinopathy by Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

“…The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin…”
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TRα2—An Untuned Second Fiddle or Fine-Tuning Thyroid Hormone Action? by Hönes, Georg Sebastian, Härting, Nina, Mittag, Jens, Kaiser, Frank J.

“…Thyroid hormones (THs) control a wide range of physiological functions essential for metabolism, growth, and differentiation. On a molecular level, TH action…”
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A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism by Westenberger, Ana, Reyes, Charles Jourdan, Saranza, Gerard, Dobricic, Valerija, Hanssen, Henrike, Domingo, Aloysius, Laabs, Björn‐Hergen, Schaake, Susen, Pozojevic, Jelena, Rakovic, Aleksandar, Grütz, Karen, Begemann, Kimberly, Walter, Uwe, Dressler, Dirk, Bauer, Peter, Rolfs, Arndt, Münchau, Alexander, Kaiser, Frank J., Ozelius, Laurie J., Jamora, Roland Dominic, Rosales, Raymond L., Diesta, Cid Czarina E., Lohmann, Katja, König, Inke R., Brüggemann, Norbert, Klein, Christine

“…Objective X‐linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE‐VNTR‐Alu (SVA) retrotransposon…”
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Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis by Meinel, Jakob A, Yumiceba, Verónica, Künstner, Axel, Schultz, Kristin, Kruse, Nathalie, Kaiser, Frank J, Holterhus, Paul-Martin, Claviez, Alexander, Hiort, Olaf, Busch, Hauke, Spielmann, Malte, Werner, Ralf

“…Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of ( ), but…”
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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

“…Genome-wide association studies (GWAS) have identified chromosomal loci that affect risk of coronary heart disease (CHD) independent of classical risk factors…”
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Chromatinopathies: A focus on Cornelia de Lange syndrome by Avagliano, Laura, Parenti, Ilaria, Grazioli, Paolo, Di Fede, Elisabetta, Parodi, Chiara, Mariani, Milena, Kaiser, Frank J., Selicorni, Angelo, Gervasini, Cristina, Massa, Valentina

“…In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome‐like.” It is known that the phenotype of…”
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X by Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel

“…Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes…”
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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism by Laabs, Björn-Hergen, Klein, Christine, Pozojevic, Jelena, Domingo, Aloysius, Brüggemann, Norbert, Grütz, Karen, Rosales, Raymond L., Jamora, Roland Dominic, Saranza, Gerard, Diesta, Cid Czarina E., Wittig, Michael, Schaake, Susen, Dulovic-Mahlow, Marija, Quismundo, Jana, Otto, Pia, Acuna, Patrick, Go, Criscely, Sharma, Nutan, Multhaupt-Buell, Trisha, Müller, Ulrich, Hanssen, Henrike, Kilpert, Fabian, Franke, Andre, Rolfs, Arndt, Bauer, Peter, Dobričić, Valerija, Lohmann, Katja, Ozelius, Laurie J., Kaiser, Frank J., König, Inke R., Westenberger, Ana

“…X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat…”
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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

“…Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal…”
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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions by Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel

“…Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance)…”
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Novel Variants of SOX4 in Patients with Intellectual Disability by Grosse, Martin, Kuechler, Alma, Dabir, Tabib, Spranger, Stephanie, Beck-Wödl, Stefanie, Bertrand, Miriam, Haack, Tobias B, Grasemann, Corinna, Manka, Eva, Depienne, Christel, Kaiser, Frank J

“…SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it…”
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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene by Lohmann, Katja, Wilcox, Robert A., Winkler, Susen, Ramirez, Alfredo, Rakovic, Aleksandar, Park, Jin-Sung, Arns, Björn, Lohnau, Thora, Groen, Justus, Kasten, Meike, Brüggemann, Norbert, Hagenah, Johann, Schmidt, Alexander, Kaiser, Frank J., Kumar, Kishore R., Zschiedrich, Katja, Alvarez-Fischer, Daniel, Altenmüller, Eckart, Ferbert, Andreas, Lang, Anthony E., Münchau, Alexander, Kostic, Vladimir, Simonyan, Kristina, Agzarian, Marc, Ozelius, Laurie J., Langeveld, Antonius P. M., Sue, Carolyn M., Tijssen, Marina A. J., Klein, Christine

“…Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or…”
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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

“…Circular RNAs (circRNAs) are regulators of processes like adipogenesis. Their expression can be modulated by SNPs. We analysed links between BMI-associated…”
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes by Parenti, Ilaria, Teresa-Rodrigo, María E., Pozojevic, Jelena, Ruiz Gil, Sara, Bader, Ingrid, Braunholz, Diana, Bramswig, Nuria C., Gervasini, Cristina, Larizza, Lidia, Pfeiffer, Lutz, Ozkinay, Ferda, Ramos, Feliciano, Reiz, Benedikt, Rittinger, Olaf, Strom, Tim M., Watrin, Erwan, Wendt, Kerstin, Wieczorek, Dagmar, Wollnik, Bernd, Baquero-Montoya, Carolina, Pié, Juan, Deardorff, Matthew A., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

“…The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional…”
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Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology by Kargapolova, Yulia, Rehimi, Rizwan, Kayserili, Hülya, Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan, Hoischen, Alexander, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa, Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro, Kurian, Leo, Wollnik, Bernd, Bouazoune, Karim, Papantonis, Argyris

“…Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its…”
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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome by Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

“…The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange…”
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G Protein-Coupled Receptor 15 Expression Is Associated with Myocardial Infarction by Haase, Tina, Müller, Christian, Stoffers, Bastian, Kirn, Philipp, Waldenberger, Melanie, Kaiser, Frank J, Karakas, Mahir, Kim, Sangwon V, Voss, Svenja, Wild, Philipp S, Lackner, Karl J, Andersson, Jonas, Söderberg, Stefan, Lindner, Diana, Zeller, Tanja

“…Beyond the influence of lifestyle-related risk factors for myocardial infarction (MI), the mechanisms of genetic predispositions for MI remain unclear. We…”
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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

“…Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we…”
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