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

ανά Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J., Wasag, Bartosz
Τόπος έκδοσης Front Genet (2018)

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

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

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

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

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

ανά 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
Τόπος έκδοσης 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...

ανά 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
Τόπος έκδοσης 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

ανά 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.
Τόπος έκδοσης PLoS Genet (2017)

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

ανά 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
Έκδοση 2014

Clinical utility gene card for: Cornelia de Lange syndrome

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης Oncotarget (2015)

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

ανά 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
Τόπος έκδοσης Int J Mol Sci (2020)

Functional characterization of the GUCY1A3 coronary artery disease risk locus

ανά 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
Τόπος έκδοσης Circulation (2017)

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2015)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

ανά 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
Τόπος έκδοσης J Med Genet (2015)

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

ανά 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.
Τόπος έκδοσης Biomed Res Int (2016)

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

ανά 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
Έκδοση 2012

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

ανά 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
Έκδοση 2012

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

ανά 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
Έκδοση 2014

Identification and functional analysis of novel THAP1 mutations

ανά 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
Έκδοση 2012

HACE1 deficiency leads to structural and functional neurodevelopmental defects

ανά 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.
Τόπος έκδοσης Neurol Genet (2019)

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

ανά 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
Τόπος έκδοσης Sci Rep (2021)