FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function von Gurzau, Alexandra D., Chen, Kelan, Xue, Shifeng, Dai, Weiwen, Lucet, Isabelle S., Ly, Thanh Thao Nguyen, Reversade, Bruno, Blewitt, Marnie E., Murphy, James M.

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Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid-binding residues von Chen, Kelan, Birkinshaw, Richard W., Gurzau, Alexandra D., Wanigasuriya, Iromi, Wang, Ruoyun, Iminitoff, Megan, Sandow, Jarrod J., Young, Samuel N., Hennessy, Patrick J., Willson, Tracy A., Heckmann, Denise A., Webb, Andrew, Blewitt, Marnie E., Czabotar, Peter E., Murphy, James M.

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development von 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

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Relating SMCHD1 structure to its function in epigenetic silencing von Gurzau, Alexandra D., Blewitt, Marnie E., Czabotar, Peter E., Murphy, James M., Birkinshaw, Richard W.

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SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite von 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

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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease von 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.

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SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization von Gurzau, Alexandra D., Horne, Christopher R., Mok, Yee-Foong, Iminitoff, Megan, Willson, Tracy A., Young, Samuel N., Blewitt, Marnie E., Murphy, James M.

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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite von 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

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Leptin, Galectin-3 and Angiotensin II Type 1 Receptor Polymorphism in Overweight and Obese Patients with Heart Failure - Role and Functional Interplay von Dadarlat-Pop, Alexandra, Pop, Dana, Procopciuc, Lucia, Sitar-Taut, Adela, Zdrenghea, Dumitru, Bodizs, Gyorgy, Tomoaia, Raluca, Gurzau, Diana, Fringu, Florina, Susca-Hojda, Silvana, Buzoianu, Anca D

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Leptin, Galectin-3 and Angiotensin II Type I Receptor Polymorphism in Overweight and Obese Patients with Heart Failure - Role and Functional Interplay von Dadarlat-Pop, Alexandra, Pop, Dana, Procopciuc, Lucia, Sitar-Taut, Adela, Zdrenghea, Dumitru, Bodizs, Gyorgy, Tomoaia, Raluca, Gurzau, Diana, Fringu, Florina, Susca-Hojda, Silvana, Buzoianu, Anca D.

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Leptin secretion and NT-proBNP levels in overweight and obese patients with chronic heart failure with or without atrial fibrillation von Dădârlat, Alexandra, Pop, Dana, Zdrenghea, Dumitru, Bodisz, Gyorgy, Fringu, Florina, Gurzau, Diana, Susca-Hojda, Silvana, Buzoianu, Anca D

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