Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

por Parenti, Ilaria, Kaiser, Frank J.
Publicado 2021

TRα2—An Untuned Second Fiddle or Fine-Tuning Thyroid Hormone Action?

por Hönes, Georg Sebastian, Härting, Nina, Mittag, Jens, Kaiser, Frank J.
Publicado 2022

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

por Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J., Wasag, Bartosz
Publicado 2018

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

por Jahnke, Philipp, Xu, Weizhen, Wülling, Manuela, Albrecht, Melanie, Gabriel, Heinz, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.
Publicado 2008

A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells

por Gavvovidis, Ioannis, Rost, Isabell, Trimborn, Marc, Kaiser, Frank J., Purps, Josephine, Wiek, Constanze, Hanenberg, Helmut, Neitzel, Heidemarie, Schindler, Detlev
Publicado 2012

Cornelia de Lange syndrome and cancer: An open question

por Pallotta, Maria M., Di Nardo, Maddalena, Hennekam, Raoul C. M., Kaiser, Frank J., Parenti, Ilaria, Pié, Juan, Ramos, Feliciano J., Kline, Antonie D., Musio, Antonio
Publicado 2022

Novel Variants of SOX4 in Patients with Intellectual Disability

por 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.
Publicado 2023

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

por 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
Publicado 2023

Evidence for correlations between BMI-associated SNPs and circRNAs

por 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
Publicado 2022

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

por 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
Publicado 2020

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...

por 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
Publicado 2017

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

por 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.
Publicado 2017

G Protein-Coupled Receptor 15 Expression Is Associated with Myocardial Infarction

por 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
Publicado 2022

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome

por Trujillano, Laura, Ayerza-Casas, Ariadna, Puisac, Beatriz, García, Gonzalo González, Ascaso, Ángela, Latorre-Pellicer, Ana, Arnedo, María, Lucia-Campos, Cristina, Gil-Salvador, Marta, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan, Bueno-Lozano, Gloria
Publicado 2022

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

por 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
Publicado 2014

Nuclear cathepsin D enhances TRPS1 transcriptional repressor function to regulate cell cycle progression and transformation in human breast cancer cells

por Bach, Anne-Sophie, Derocq, Danielle, Laurent-Matha, Valérie, Montcourrier, Philippe, Salwa Sebti, Salwa, Orsetti, Béatrice, Theillet, Charles, Gongora, Céline, Pattingre, Sophie, Ibing, Eva, Roger, Pascal, Linares, Laetitia K., Reinheckel, Thomas, Meurice, Guillaume, Kaiser, Frank J., Gespach, Christian, Liaudet-Coopman, Emmanuelle
Publicado 2015

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

por 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
Publicado 2020

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

por Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Publicado 2015

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Pozojevic, Jelena, Parenti, Ilaria, Baquero-Montoya, Carolina, Gil-Rodríguez, María C., Braunholz, Diana, Dalski, Andreas, Hernández-Marcos, María, Ayerza, Ariadna, Bernal, María L., Ramos, Feliciano J., Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Pié, Juan, Kaiser, Frank J.
Publicado 2016

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

por Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank J, Depienne, Christel, Pearson, Christopher E, Westenberger, Ana, Klein, Christine
Publicado 2022