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

od Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J., Wasag, Bartosz
Izdano u Front Genet (2018)

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

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

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

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

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

od 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
Izdano u 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...

od 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
Izdano u 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

od 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.
Izdano u PLoS Genet (2017)

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

od 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
Izdano 2014

Clinical utility gene card for: Cornelia de Lange syndrome

od 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
Izdano u 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

od 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
Izdano u Oncotarget (2015)

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

od 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
Izdano u Int J Mol Sci (2020)

Functional characterization of the GUCY1A3 coronary artery disease risk locus

od 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
Izdano u Circulation (2017)

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

od 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
Izdano u Eur J Hum Genet (2015)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

od 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
Izdano u J Med Genet (2015)

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

od 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.
Izdano u Biomed Res Int (2016)

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

od 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
Izdano 2012

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

od 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
Izdano 2012

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

od 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
Izdano 2014

Identification and functional analysis of novel THAP1 mutations

od 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
Izdano 2012

HACE1 deficiency leads to structural and functional neurodevelopmental defects

od 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.
Izdano u Neurol Genet (2019)

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

od 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
Izdano u Sci Rep (2021)