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Select item 108028591.

Nasal construction in congenital arhinia due to novel SMCHD1 gene variant

Marie Bargiela, Janina Kueper, Arman T. Serebrakian, MaKenna R. Browne, Susan Brogna, Zachary S. Peacock, Branko Bojovic, Natalie D. Shaw, Eric C. Liao

J Craniofac Surg. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: J Craniofac Surg. 2023 May 1; 34(3): 849–854. Published online 2023 Mar 22. doi: 10.1097/SCS.0000000000009261

PMCID:: PMC10802859

Abstract Article PDF–1.9M

Select item 104151542.

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype

Camille Laberthonnière, Mégane Delourme, Raphaël Chevalier, Camille Dion, Benjamin Ganne, David Hirst, Leslie Caron, Pierre Perrin, José Adélaïde, Max Chaffanet, Shifeng Xue, Karine Nguyen, Bruno Reversade, Jérôme Déjardin, Anaïs Baudot, Jérôme D Robin, Frédérique Magdinier

Nucleic Acids Res. 2023 Aug 11; 51(14): 7269–7287. Published online 2023 Jun 19. doi: 10.1093/nar/gkad523

PMCID:: PMC10415154

Abstract Article PDF–3.5M

Select item 89674283.

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G. Konersman, Angela M. Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K. Wade Foster, A. Reghan Foley, Steven A. Moore, Peter L. Jones, Carsten G. Bonnemann, Takako Jones, Natalie D. Shaw

Neurology. 2022 Mar 29; 98(13): e1384–e1396. doi: 10.1212/WNL.0000000000200032

PMCID:: PMC8967428

Abstract Article PDF–781K

Select item 86313854.

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

Liang-Liang Qiu, Xiao-Dan Lin, Guo-Rong Xu, Li-Li Wang, Zhi-Xian Ye, Feng Lin, Hai-Zhu Chen, Min-Ting Lin, Nai-Qing Cai, Ming Jin, Liu-Qing Xu, Wei Hu, Ning Wang, Zhi-Qiang Wang

Chin Med J (Engl) 2021 Nov 20; 134(22): 2753–2755. Published online 2021 Mar 23. doi: 10.1097/CM9.0000000000001425

PMCID:: PMC8631385

Article PDF–432K

Select item 82868255.

SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization

Alexandra D. Gurzau, Christopher R. Horne, Yee-Foong Mok, Megan Iminitoff, Tracy A. Willson, Samuel N. Young, Marnie E. Blewitt, James M. Murphy

Biochem J. 2021 Jul 16; 478(13): 2555–2569. Prepublished online 2021 Jun 10. Published online 2021 Jul 9. doi: 10.1042/BCJ20210278

PMCID:: PMC8286825

Abstract Article PDF–10M

Select item 74584016.

Relating SMCHD1 structure to its function in epigenetic silencing

Alexandra D. Gurzau, Marnie E. Blewitt, Peter E. Czabotar, James M. Murphy, Richard W. Birkinshaw

Biochem Soc Trans. 2020 Aug 28; 48(4): 1751–1763. Published online 2020 Aug 11. doi: 10.1042/BST20200242

PMCID:: PMC7458401

Abstract Article PDF–3.1M

Select item 73351617.

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

Kenichi Kinjo, Keisuke Nagasaki, Koji Muroya, Erina Suzuki, Keisuke Ishiwata, Kazuhiko Nakabayashi, Atsushi Hattori, Koji Nagao, Ryu-Suke Nozawa, Chikashi Obuse, Kenji Miyado, Tsutomu Ogata, Maki Fukami, Mami Miyado

Sci Rep. 2020; 10: 10985. Published online 2020 Jul 3. doi: 10.1038/s41598-020-67715-x

PMCID:: PMC7335161

Abstract Article PDF–1.5M

Select item 69693708.

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations

Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Giulia Campoli, Cristina Bax, Luca Colantoni, Giulietta Minozzi, Chiara Orsini, Luisa Politano, Giorgio Tasca, Giuseppe Novelli, Enzo Ricci, Emiliano Giardina, Raffaella Cascella

Hum Mol Genet. 2019 Dec 1; 28(23): 3912–3920. Published online 2019 Oct 10. doi: 10.1093/hmg/ddz239

PMCID:: PMC6969370

Abstract Article PDF–52M

Select item 66203109.

A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1

Lars C. Pedersen, Kaoru Inoue, Susan Kim, Lalith Perera, Natalie D. Shaw

Commun Biol. 2019; 2: 255. Published online 2019 Jul 10. doi: 10.1038/s42003-019-0499-y

PMCID:: PMC6620310

Abstract Article PDF–2.2M

Select item 645110910.

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

Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D Gurzau, Agnieszka Nowak, Christopher T Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binetruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaelle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M Murphy, Jérôme Déjardin, Marnie E Blewitt, Bruno Reversade, Jérôme D Robin, Frédérique Magdinier

Nucleic Acids Res. 2019 Apr 8; 47(6): 2822–2839. Published online 2019 Jan 30. doi: 10.1093/nar/gkz005

PMCID:: PMC6451109

Abstract Article PDF–8.0M

Select item 609094611.

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage

Yosuke Hiramuki, Stephen J. Tapscott

Skelet Muscle. 2018; 8: 24. Published online 2018 Aug 2. doi: 10.1186/s13395-018-0172-z

PMCID:: PMC6090946

Abstract Article PDF–5.2M

Select item 601956112.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Judit Balog, Remko Goossens, Richard J.L.F Lemmers, Kirsten R. Straasheijm, Patrick J. van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M. Donlin-Smith, Claudia A. L. Ruivenkamp, Patricia Heard, Stephen J. Tapscott, Jannine D. Cody, Rabi Tawil, Sabrina Sacconi, Silvère M. van der Maarel

J Med Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: J Med Genet. 2018 Jul; 55(7): 469–478. Published online 2018 Mar 21. doi: 10.1136/jmedgenet-2017-105153

PMCID:: PMC6019561

Abstract Article PDF–879K

Select item 546177113.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel

Skelet Muscle. 2017; 7: 12. Published online 2017 Jun 6. doi: 10.1186/s13395-017-0129-7

PMCID:: PMC5461771

Abstract Article PDF–1.3M

Select item 479523914.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Marlinde L van den Boogaard, Richard JFL Lemmers, Pilar Camaño, Patrick J van der Vliet, Nicol Voermans, Baziel GM van Engelen, Adolfo Lopez de Munain, Stephen J Tapscott, Nienke van der Stoep, Rabi Tawil, Silvère M van der Maarel

Eur J Hum Genet. 2016 Jan; 24(1): 78–85. Published online 2015 Mar 18. doi: 10.1038/ejhg.2015.55

PMCID:: PMC4795239

Abstract Article PDF–721K

Select item 479505015.

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Mirjam Larsen, Simone Rost, Nady El Hajj, Andreas Ferbert, Marcus Deschauer, Maggie C Walter, Benedikt Schoser, Pawel Tacik, Wolfram Kress, Clemens R Müller

Eur J Hum Genet. 2015 Jun; 23(6): 808–816. Published online 2014 Nov 5. doi: 10.1038/ejhg.2014.191

PMCID:: PMC4795050

Abstract Article PDF–1.7M

Select item 459739116.

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

Mary B. Mayes, Taniesha Morgan, Jincy Winston, Daniel S. Buxton, Mihir Anant Kamat, Debbie Smith, Maggie Williams, Rebecca L. Martin, Dirk A. Kleinjan, David N. Cooper, Meena Upadhyaya, Nadia Chuzhanova

Hum Genomics. 2015; 9: 25. Published online 2015 Oct 7. doi: 10.1186/s40246-015-0047-x

PMCID:: PMC4597391

Abstract Article PDF–789K

Select item 447547317.

Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: Consequences for 18p deletion syndrome

Richard J.L.F. Lemmers, Marlinde L. van den Boogaard, Patrick J. van der Vliet, Colleen M. Donlin-Smith, Sharon P. Nations, Claudia A.L. Ruivenkamp, Patricia Heard, Bert Bakker, Stephen Tapscott, Jannine D. Cody, Rabi Tawil, Silvère M. van der Maarel

Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Hum Mutat. 2015 Jul; 36(7): 679–683. Published online 2015 May 20. doi: 10.1002/humu.22792

PMCID:: PMC4475473

Abstract Article PDF–323K

Select item 385194218.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, Takako I Jones, Fedik Rahimov, Timothy W Yu, Basil T Darras, Anthony A Amato, Rebecca D Folkerth, Peter L Jones, Louis M Kunkel, Peter B Kang

Neuromuscul Disord. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2013 Dec; 23(12): 10.1016/j.nmd.2013.08.009. Published online 2013 Aug 31. doi: 10.1016/j.nmd.2013.08.009

PMCID:: PMC3851942

Abstract Article PDF–1.5M

Select item 379126219.

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Pauline Lahaut, Merlijn P. van Nieuwenhuizen, Kirsten R. Straasheijm, Rashmie D. Debipersad, Marianne Vos-Versteeg, Leonardo Salviati, Alberto Casarin, Elena Pegoraro, Rabi Tawil, Egbert Bakker, Stephen J. Tapscott, Claude Desnuelle, Silvère M. van der Maarel

Am J Hum Genet. 2013 Oct 3; 93(4): 744–751. doi: 10.1016/j.ajhg.2013.08.004

PMCID:: PMC3791262

Abstract Article PDF–829K

Select item 1030790120.

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Darina Šikrová, Alessandra M. Testa, Iris Willemsen, Anita van den Heuvel, Stephen J. Tapscott, Lucia Daxinger, Judit Balog, Silvère M. van der Maarel

Commun Biol. 2023; 6: 677. Published online 2023 Jun 28. doi: 10.1038/s42003-023-05053-0

PMCID:: PMC10307901

Abstract Article PDF–1.2M

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PMC Links for Gene (Select 23347) (125)
PMC
PREDICTED: Homo sapiens structural maintenance of chromosomes flexible hinge dom...
PREDICTED: Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), transcript variant X4, mRNA
gi|2462560062|ref|XM_054318427.1|

Nucleotide
structural maintenance of chromosomes flexible hinge domain-containing protein 1...
structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform X6 [Homo sapiens]
gi|2217316542|ref|XP_047293385.1|

Protein

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