MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL
Parenti, Ilaria, Diab, Farah, Sara Ruiz Gil, Eskeatnaf Mulugeta, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger Ww, Dupe, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Thomas Van Staveren, Wilfred Fj Van Ijcken, Strom, Tim M, Pie, Juan, Watrin, Erwan, Kaiser, Frank J, Wendt, Kerstin S
Published in bioRxiv (02.12.2018)
Published in bioRxiv (02.12.2018)
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M, Capo, Ivan, Herma C Van Der Linde, Van Den Berg, Paul, Jacobs, Edwin H, Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, Wilfred Fj Van Ijcken, De Valk, Walter G, Evita Medici-Van Den Herik, Marjon Van Slegtenhorst, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N, Bernstein, Jonathan A, Monaghan, Kristin G, Begtrup, Amber, Torene, Rebecca, Amna Al Futaisi, Fathiya Al Murshedi, Mani, Renjith, Faisal Al Azri, Erik-Jan Kamsteeg, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Ehsan Ghayoor Karimiani, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K, Hertecant, Jozef, Bauer, Peter, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M, Maroofian, Reza, Retterer, Kyle, Brooks, Alice S, Van Ham, Tjakko J, Barakat, Tahsin Stefan
Published in bioRxiv (10.10.2019)
Published in bioRxiv (10.10.2019)
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Lewy pathology in Parkinson's disease consists of a crowded organellar, membranous medley
Shahmoradian, Sarah H, Lewis, Amanda J, Genoud, Christel, Graff-Meyer, Alexandra, Hench, Juergen, Moors, Tim, Schweighauser, Gabriel, Wang, Jing, Goldie, Kenneth N, Suetterlin, Rosmarie, Castano-Diez, Daniel, Perez-Navarro, Paula, Huisman, Evelien, Ipsen, Sabine, Ingrassia, Angela, De Gier, Yvonne, Rozemuller, Annemieke Jm, Da Paepe, Anne, Erny, Johannes, Staempfli, Andreas, Hoernschemeyer, Joerg, Grosserueschkamp, Frederik, Niedieker, Daniel, El-Mashtoly, Samir F, Quadri, Marialuida, Wilfred Fj Van Ijcken, Bonifati, Vincenzo, Gerwert, Klaus, Bohrmann, Bernd, Frank, Stephan, Britschgi, Markus, Stahlberg, Henning, Van De Berg, Wilma, Lauer, Matthias E
Published in bioRxiv (13.02.2019)
Published in bioRxiv (13.02.2019)
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Chromatin architecture and cis-regulatory landscape of the DACT2-SMOC2 locus in the developing synovial joint
Nowosad, Karol, Hordyjewska-Kowalczyk, Ewa, Malesa, Aneta, Odrzywolski, Adrian, Brouwer, Rutger W W, Kolovos, Petros, Boltsis, Ilias, Birkhoff, Judith C, Wilfred F J Van Ijcken, Grosveld, Frank G, Conidi, Andrea, Huylebroeck, Danny, Tylzanowski, Przemko
Published in bioRxiv (06.10.2022)
Published in bioRxiv (06.10.2022)
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Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
Kayser, Manfred, Liu, Fan, Janssens, A Cecile JW, Rivadeneira, Fernando, Lao, Oscar, Duijn, Kate van, Vermeulen, Mark, Arp, Pascal, Jhamai, Mila M, IJcken, Wilfred FJ van, Dunnen, Johan T den, Heath, Simon, Zelenika, Diana, Despriet, Dominiek DG, Klaver, Caroline CW, Vingerling, Johannes R, Jong, Paulus TVM de, Hofman, Albert, Aulchenko, Yurii S, Uitterlinden, Andre G, Oostra, Ben A, Duijn, Cornelia M van
Published in American journal of human genetics (08.02.2008)
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Published in American journal of human genetics (08.02.2008)
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Enhancer-associated H3K4 methylation safeguards in vitro germline competence
Bleckwehl, Tore, Crispatzu, Giuliano, Schaaf, Kaitlin, Respuela, Patricia, Bartusel, Michaela, Benson, Laura, Clark, Stephen J, Dorighi, Kristel M, Barral, Antonio, Laugsch, Magdalena, Wilfred F J Van Ijcken, Manzanares, Miguel, Wysocka, Joanna, Wolf Reik, Rada-Iglesias, Álvaro
Published in bioRxiv (20.01.2021)
Published in bioRxiv (20.01.2021)
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SPEN is Required for Xist Upregulation during Initiation of X Chromosome Inactivation
Robert-Finestra, Teresa, Tan, Beatrice F, Mira-Bontenbal, Hegias, Timmers, Erika, Gontan-Pardo, Cristina, Merzouk, Sarra, Benedetto Daniele Giaimo, Dossin, François, Wilfred F J Van Ijcken, Martens, John W M, Borggrefe, Tilman, Heard, Edith, Gribnau, Joost
Published in bioRxiv (30.12.2020)
Published in bioRxiv (30.12.2020)
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Redundant and specific roles of cohesin STAG subunits in chromatin looping and transcription control
Casa, Valentina, Macarena Moronta Gines, Eduardo Gade Gusmao, Slotman, Johan A, Zirkel, Anne, Josipovic, Natasa, Oole, Edwin, Wilfred F J Van Ijcken, Houtsmuller, Adriaan B, Argyris Papantonis, Wendt, Kerstin S
Published in bioRxiv (20.05.2019)
Published in bioRxiv (20.05.2019)
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