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

per Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J., Wasag, Bartosz
Publicat a Front Genet (2018)

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

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

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

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

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

per 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
Publicat a Orphanet J Rare Dis (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...

per 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
Publicat a Int J Mol Sci (2017)

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

per 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.
Publicat a PLoS Genet (2017)

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

per 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
Publicat 2014

Clinical utility gene card for: Cornelia de Lange syndrome

per 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
Publicat a Eur J Hum Genet (2015)

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

per 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
Publicat a Oncotarget (2015)

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

per 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
Publicat a Int J Mol Sci (2020)

Functional characterization of the GUCY1A3 coronary artery disease risk locus

per 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
Publicat a Circulation (2017)

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

per 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
Publicat a Eur J Hum Genet (2015)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

per 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
Publicat a J Med Genet (2015)

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

per 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.
Publicat a Biomed Res Int (2016)

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

per 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
Publicat 2012

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

per 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
Publicat 2012

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

per 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
Publicat 2014

Identification and functional analysis of novel THAP1 mutations

per 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
Publicat 2012

HACE1 deficiency leads to structural and functional neurodevelopmental defects

per 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.
Publicat a Neurol Genet (2019)

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

per 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
Publicat a Sci Rep (2021)