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FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
Gurzau, Alexandra D., Chen, Kelan, Xue, Shifeng, Dai, Weiwen, Lucet, Isabelle S., Ly, Thanh Thao Nguyen, Reversade, Bruno, Blewitt, Marnie E., Murphy, James M.
Published in The Journal of biological chemistry (22.06.2018)
Published in The Journal of biological chemistry (22.06.2018)
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Journal Article
MORC2 is a phosphorylation-dependent DNA compaction machine
Tan, Winnie, Park, Jeongveen, Venugopal, Hariprasad, Lou, Jieqiong, Dias, Prabavi Shayana, Baldoni, Pedro L., Moon, Kyoung-Wook, Dite, Toby A., Keenan, Christine R., Gurzau, Alexandra D., Lee, Joonyoung, Johanson, Timothy M., Leis, Andrew, Yousef, Jumana, Vaibhav, Vineet, Dagley, Laura F., Ang, Ching-Seng, Corso, Laura D., Davidovich, Chen, Vervoort, Stephin J., Smyth, Gordon K., Blewitt, Marnie E., Allan, Rhys S., Hinde, Elizabeth, D’Arcy, Sheena, Ryu, Je-Kyung, Shakeel, Shabih
Published in Nature communications (01.07.2025)
Published in Nature communications (01.07.2025)
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Journal Article
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Gordon, Christopher T, Xue, Shifeng, Yigit, Gökhan, Filali, Hicham, Chen, Kelan, Rosin, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J, McGowan, Ruth, Magee, Alex C, Altmüller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D, Nürnberg, Peter, Meschede, Dieter, Mühlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschké, Patrick, Ragge, Nicola, Lévy, Nicolas, Tunçbilek, Gökhan, Teo, Audrey S M, Cunningham, Michael L, Sefiani, Abdelaziz, Kayserili, Hülya, Murphy, James M, Chatdokmaiprai, Chalermpong, Hillmer, Axel M, Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas, Magdinier, Frédérique, Javed, Asif, Blewitt, Marnie E, Amiel, Jeanne, Wollnik, Bernd, Reversade, Bruno
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Journal Article
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique
Published in Nucleic acids research (08.04.2019)
Published in Nucleic acids research (08.04.2019)
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Journal Article
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
Tapia del Fierro, Andres, den Hamer, Bianca, Benetti, Natalia, Jansz, Natasha, Chen, Kelan, Beck, Tamara, Vanyai, Hannah, Gurzau, Alexandra D., Daxinger, Lucia, Xue, Shifeng, Ly, Thanh Thao Nguyen, Wanigasuriya, Iromi, Iminitoff, Megan, Breslin, Kelsey, Oey, Harald, Krom, Yvonne D., van der Hoorn, Dinja, Bouwman, Linde F., Johanson, Timothy M., Ritchie, Matthew E., Gouil, Quentin A., Reversade, Bruno, Prin, Fabrice, Mohun, Timothy, van der Maarel, Silvère M., McGlinn, Edwina, Murphy, James M., Keniry, Andrew, de Greef, Jessica C., Blewitt, Marnie E.
Published in Nature communications (25.09.2023)
Published in Nature communications (25.09.2023)
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Journal Article
MORC2 phosphorylation fine tunes its DNA compaction activity
Tan, Winnie, Park, Jeong Veen, Venugopal, Hariprasad, Lou, Jie Qiong, Dias, Prabavi Shayana, Baldoni, Pedro L, Dite, Toby, Moon, Kyoung-Wook, Keenan, Christine R, Gurzau, Alexandra D, Leis, Andrew, Yousef, Jumana, Vaibhav, Vineet, Dagley, Laura F, Ang, Ching-Seng, Corso, Laura, Davidovich, Chen, Vervoort, Stephin J, Smyth, Gordon K, Blewitt, Marnie E, Allan, Rhys S, Hinde, Elizabeth, D'Arcy, Sheena, Ryu, Je-Kyung, Shakeel, Shabih
Published in bioRxiv (28.06.2024)
Published in bioRxiv (28.06.2024)
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Journal Article
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite
Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Robaglia-Schlupp, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Salort-Campana, Emmanuelle, Binétruy, Bernard, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin-Ducellier, Jérôme, Magdinier, Frédérique
Published in iScience (01.01.2022)
Published in iScience (01.01.2022)
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Journal Article
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
Andres Tapia Del Fierro, Den Hamer, Bianca, Jansz, Natasha, Chen, Kelan, Beck, Tamara, Vanyai, Hannah, Benetti, Natalia, Gurzau, Alexandra D, Daxinger, Lucia, Xue, Shifeng, Thanh Thao Nguyen Ly, Wanigasuriya, Iromi, Breslin, Kelsey, Oey, Harald, Krom, Yvonne, Dinja Van Der Hoorn, Bouwman, Linde F, Ritchie, Matthew E, Reversade, Bruno, Prin, Fabrice, Mohun, Timothy, Silvère M Van Der Maarel, Mcglinn, Edwina, Murphy, James M, Keniry, Andrew, De Greef, Jessica C, Blewitt, Marnie E
Published in bioRxiv (13.05.2021)
Published in bioRxiv (13.05.2021)
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