| SMCHD1 activates the expression of genes required for the expansion of human myoblasts. | SMCHD1 activates the expression of genes required for the expansion of human myoblasts.
Wong MM, Hachmer S, Gardner E, Runfola V, Arezza E, Megeney LA, Emerson CP Jr, Gabellini D, Dilworth FJ., Free PMC Article | 09/9/2024 |
| DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis. | DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.
Engal E, Sharma A, Aviel U, Taqatqa N, Juster S, Jaffe-Herman S, Bentata M, Geminder O, Gershon A, Lewis R, Kay G, Hecht M, Epsztejn-Litman S, Gotkine M, Mouly V, Eiges R, Salton M, Drier Y., Free PMC Article | 06/5/2024 |
| In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. | In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F., Free PMC Article | 08/14/2023 |
| SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. | SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Šikrová D, Testa AM, Willemsen I, van den Heuvel A, Tapscott SJ, Daxinger L, Balog J, van der Maarel SM., Free PMC Article | 07/7/2023 |
| Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant. | Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.
Bargiela M, Kueper J, Serebrakian AT, Browne MR, Brogna S, Peacock ZS, Bojovic B, Shaw ND, Liao EC., Free PMC Article | 05/8/2023 |
| DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. | DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.
Inoue K, Bostan H, Browne MR, Bevis OF, Bortner CD, Moore SA, Stence AA, Martin NP, Chen SH, Burkholder AB, Li JL, Shaw ND., Free PMC Article | 02/22/2023 |
| Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. | Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND., Free PMC Article | 04/16/2022 |
| A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2. | A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.
Qiu LL, Lin XD, Xu GR, Wang LL, Ye ZX, Lin F, Chen HZ, Lin MT, Cai NQ, Jin M, Xu LQ, Hu W, Wang N, Wang ZQ., Free PMC Article | 02/5/2022 |
| A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression. | A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
Goossens R, Tihaya MS, van den Heuvel A, Tabot-Ndip K, Willemsen IM, Tapscott SJ, González-Prieto R, Chang JG, Vertegaal ACO, Balog J, van der Maarel SM., Free PMC Article | 01/29/2022 |
| SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization. | SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.
Gurzau AD, Horne CR, Mok YF, Iminitoff M, Willson TA, Young SN, Blewitt ME, Murphy JM., Free PMC Article | 12/4/2021 |
| Relating SMCHD1 structure to its function in epigenetic silencing. | Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD, Blewitt ME, Czabotar PE, Murphy JM, Birkinshaw RW., Free PMC Article | 06/5/2021 |
| A Three Protein-Coding Gene Prognostic Model Predicts Overall Survival in Bladder Cancer Patients. | A Three Protein-Coding Gene Prognostic Model Predicts Overall Survival in Bladder Cancer Patients.
Ning XH, Qi YY, Wang FX, Li SC, Jia ZK, Yang JJ., Free PMC Article | 05/15/2021 |
| SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres. | SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres.
Vančevska A, Ahmed W, Pfeiffer V, Feretzaki M, Boulton SJ, Lingner J., Free PMC Article | 12/12/2020 |
| Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. | Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa RS, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M., Free PMC Article | 12/12/2020 |
| The estimated intronic mutation frequency of almost 2% in Facioscapulohumeral dystrophy(FSHD2), as exemplified by the two novel intronic SMCHD1 variants identified here, emphasises the importance of screening for intronic variants in SMCHD1. | Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. | 07/4/2020 |
| Sequence analysis of SMCHD1 in patients with FSHD (facioscapulohumeral muscular dystrophy) found 82 variants localized in the introns, exons and 3'UTR region. pathogenic/likely pathogenic variants were identified in patients were predicted to disrupt the structure and conformation of SMCHD1, resulting in the loss of GHKL-ATPase and SMC hinge essential domains. These results are consistent with the FSHD symptomatology. | The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R., Free PMC Article | 06/9/2020 |
| analysis of the crystal structure of the human SMCHD1 N-terminal GHKL-ATPase/transducer module | A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1.
Pedersen LC, Inoue K, Kim S, Perera L, Shaw ND., Free PMC Article | 05/2/2020 |
| our study demonstrates preservation of XCI in arhinia and FSHD2, and implicates SMCHD1 in the regulation of the 3D organization of select autosomal gene clusters | Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.
Wang CY, Brand H, Shaw ND, Talkowski ME, Lee JT., Free PMC Article | 02/15/2020 |
| SMCHD1 mutation affects the expression of small RNAs in the facioscapulohumeral muscular dystrophy muscle cells. | Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN., Free PMC Article | 12/7/2019 |
| SMCHD1 is required for the dynamic methylation of the D4Z4 macrosatellite upon reprogramming but seems dispensable for methylation maintenance. We find that Facio-Scapulo-Humeral Dystrophy (FSHD) and Bosma Arhinia Microphtalmia Syndrome patient's cells carrying SMCHD1 mutations are both permissive for DUX4 expression, a transcription factor whose regulation has been proposed as the main trigger for FSHD. | SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F., Free PMC Article | 11/16/2019 |
| 18p deletions leading to haploinsufficiency of SMCHD1, together with a moderately sized FSHD permissive D4Z4 allele, can associate with symptoms and molecular features of FSHD. We propose that patients with 18p deletion should be characterised for their D4Z4 repeat size and haplotype and monitored for clinical features of FSHD. | Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM., Free PMC Article | 10/5/2019 |
| FSHD2 patients with unusually large 4qA alleles of 21-70 D4Z4 units were identified. Most of these large 4qA alleles represent duplication alleles in which the long D4Z4 repeat arrays are followed by a small FSHD-sized D4Z4 repeat array duplication. These duplication alleles are associated with DUX4 expression. | Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM., Free PMC Article | 05/25/2019 |
| We generated FSHD2-derived isogenic control clones with SMCHD1 mutation corrected by clustered regularly interspaced short palindromic repeats (CRISPR)/ CRISPR associated 9 (Cas9) and homologous recombination and found in the myocytes obtained from these clones that DUX4 basal expression and the OS-induced upregulation were markedly suppressed due to an increase in the heterochromatic state at 4q35. | A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H., Free PMC Article | 05/18/2019 |
| A mutation in SMCHD1 gene reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller Xenopus eye size. | FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM., Free PMC Article | 01/26/2019 |
| Regions necessary for SMCHD1 protein nuclear localization, dimerization, and cleavage sites were identified. | Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.
Hiramuki Y, Tapscott SJ., Free PMC Article | 12/22/2018 |