| 1 | FSHD2, FSHMD1A, SMCHD1
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| Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
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| Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.
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| J Med Genet Med Genet. 2019 Apr 22. pii: jmedgenet-2018-105949. doi: 10.1136/jmedgenet-2018-105949. [Epub ahead of print]
2019
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| 2 | DUX4, SMCHD1
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| SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
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| 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.
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| Nucleic Acids Res 47(6):2822-2839. doi: 10.1093/nar/gkz005.
2019
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| 3 | SMCHD1
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| The non-canonical SMC protein SmcHD1 antagonises TAD formation and compartmentalisation on the inactive X chromosome.
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| Gdula MR, Nesterova TB, Pintacuda G, Godwin J, Zhan Y, Ozadam H, McClellan M, Moralli D, Krueger F, Green CM, Reik W, Kriaucionis S, Heard E, Dekker J, Brockdorff N.
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| Nat Commun 10(1):30. doi: 10.1038/s41467-018-07907-2.
2019
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| 4 | DUX4, FSHD2, FSHMD1A, SMCHD1
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| A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.
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| Mah JK, Chen YW.
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| J Pediatr Neurol 16(4):222-231. doi: 10.1055/s-0037-1604197.
2018
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| 5 | BAMS, FSHD2, SMCHD1
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| FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
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| Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM.
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| J Biol Chem 293(25):9841-9853. doi: 10.1074/jbc.RA118.003104. Epub 2018 May 10.
2018
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| 6 | DUX4, FSHD2, FSHMD1A, SMCHD1
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| Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
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| 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.
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| Hum Mol Genet 27(20):3488-3497. doi: 10.1093/hmg/ddy236.
2018
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| 7 | SMCHD1
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| Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters.
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| Jansz N, Keniry A, Trussart M, Bildsoe H, Beck T, Tonks ID, Mould AW, Hickey P, Breslin K, Iminitoff M, Ritchie ME, McGlinn E, Kay GF, Murphy JM, Blewitt ME.
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| Nat Struct Mol Biol 25(9):766-777. doi: 10.1038/s41594-018-0111-z. Epub 2018 Aug 20.
2018
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| 8 | SMCHD1
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| Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.
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| Hiramuki Y, Tapscott SJ.
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| Skelet Muscle 8(1):24. doi: 10.1186/s13395-018-0172-z.
2018
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| 9 | BAMS, FSHD2, SMCHD1
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| De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
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| Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
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| Nat Genet 49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.
2017
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| 10 | BAMS, SMCHD1
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| The Epigenetic Regulator SMCHD1 in Development and Disease.
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| Jansz N, Chen K, Murphy JM, Blewitt ME.
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| Trends Genet 33(4):233-243. doi: 10.1016/j.tig.2017.01.007. Epub 2017 Feb 20. Review.
2017
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| 11 | SMCHD1
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| SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
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| Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.
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| Skelet Muscle 7(1):12. doi: 10.1186/s13395-017-0129-7.
2017
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| 12 | DNMT3B, FSHD2, FSHMD1A, SMCHD1
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| Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
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| van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM.
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| Am J Hum Genet 98(5):1020-9. doi: 10.1016/j.ajhg.2016.03.013.
2016
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| 13 | BAMS, SMCHD1
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| Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
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| Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA.
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| Am J Med Genet A 170A(5):1302-7. doi: 10.1002/ajmg.a.37572. Epub 2016 Feb 3.
2016
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| 14 | SMCHD1
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| The hinge domain of the epigenetic repressor Smchd1 adopts an unconventional homodimeric configuration.
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| Chen K, Czabotar PE, Blewitt ME, Murphy JM.
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| Biochem J 473(6):733-42. doi: 10.1042/BJ20151049. Epub 2016 Jan 5.
2016
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| 15 | SMCHD1
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| Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.
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| Brideau NJ, Coker H, Gendrel AV, Siebert CA, Bezstarosti K, Demmers J, Poot RA, Nesterova TB, Brockdorff N.
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| Mol Cell Biol 35(23):4053-68. doi: 10.1128/MCB.00432-15. Epub 2015 Sep 21.
2015
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| 16 | SMCHD1
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| Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage.
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| Tang M, Li Y, Zhang X, Deng T, Zhou Z, Ma W, Songyang Z.
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| J Biol Chem 289(49):34024-32. doi: 10.1074/jbc.M114.601179. Epub 2014 Oct 7.
2014
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| 17 | SMCHD1
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| Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.
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| Massah S, Hollebakken R, Labrecque MP, Kolybaba AM, Beischlag TV, Prefontaine GG.
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| PLoS One 9(5):e97535. doi: 10.1371/journal.pone.0097535. eCollection 2014.
2014
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| 18 | SMCHD1
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| Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation.
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| Mould AW, Pang Z, Pakusch M, Tonks ID, Stark M, Carrie D, Mukhopadhyay P, Seidel A, Ellis JJ, Deakin J, Wakefield MJ, Krause L, Blewitt ME, Kay GF.
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| Epigenetics Chromatin 6(1):19. doi: 10.1186/1756-8935-6-19.
2013
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| 19 | SMCHD1
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| Epigenetic regulator Smchd1 functions as a tumor suppressor.
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| Leong HS, Chen K, Hu Y, Lee S, Corbin J, Pakusch M, Murphy JM, Majewski IJ, Smyth GK, Alexander WS, Hilton DJ, Blewitt ME.
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| Cancer Res 73(5):1591-9. doi: 10.1158/0008-5472.CAN-12-3019. Epub 2012 Dec 26.
2013
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| 20 | FSHMD1A, SMCHD1
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| The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
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| Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.
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| Am J Hum Genet 93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26.
2013
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| 21 | SMCHD1
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| Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes.
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| Gendrel AV, Tang YA, Suzuki M, Godwin J, Nesterova TB, Greally JM, Heard E, Brockdorff N.
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| Mol Cell Biol 33(16):3150-65. doi: 10.1128/MCB.00145-13. Epub 2013 Jun 10.
2013
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| 22 | SMCHD1
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| Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.
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| Nozawa RS, Nagao K, Igami KT, Shibata S, Shirai N, Nozaki N, Sado T, Kimura H, Obuse C.
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| Nat Struct Mol Biol 20(5):566-73. doi: 10.1038/nsmb.2532. Epub 2013 Mar 31.
2013
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| 23 | FSHMD1A, SMCHD1
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| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
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| Nat Genet 44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.
2012
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| 24 | FSHD2, SMCHD1
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| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
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| Nat Genet 44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.
2012
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| 25 | FSHD2, SMCHD1
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| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
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| Nat Genet 44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.
2012
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| 26 | SMCHD1
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| SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
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| Blewitt ME, Gendrel AV, Pang Z, Sparrow DB, Whitelaw N, Craig JM, Apedaile A, Hilton DJ, Dunwoodie SL, Brockdorff N, Kay GF, Whitelaw E.
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| Nat Genet 40(5):663-9. doi: 10.1038/ng.142. Epub 2008 Apr 20.
2008
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| 27 | AATK, ACIN1, ACOT11, ACSBG1, ADAMTS4, ADGRV1, AKAP11, ANKLE2, ARHGAP26, ARHGEF2, ASTN2, ATP2C2, ATP9A, BICD2, BZRAP1, C12orf51, CAND2, CEP135, CLASP1, CLASP2, CLUAP1, CLUH, CNOT3, COBL, CPNE3, CRTC1, CRY2, CSTF2T, CUL3, CUL4B, DAAM1, DAGLA, DEPDC5, DNAJC13, DOCK10, DZIP3, FBXW11, FKBP15, G3BP2, HEPH, HIP1R, HIPK1, ICOSLG, KIAA0649, KIAA0652, KIF13B, KIF1C, KIF21A, L3MBTL1, LDB3, MAGI2, MAP4K4, MFAP3L, MGEA5, MRC2, MTMR4, N4BP1, NPHP4, OBSL1, PAN2, PHACTR2, PHF2, PHLDB1, PLXND1, PPFIA3, PTCD1, RAB11FIP3, RBM19, RICH2, RNF40, RNF8, ROCK2, RRP12, SAPS2, SETX, SIN3B, SLC24A1, SMCHD1, SNAP91, SOCS5, SS18L1, SWAP70, TBC1D9B, TELO2, TNRC15, TSC22D2, UBE4B, UHRF1BP1L, ULK2, ZBED4, ZC3H11A, ZNF623
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| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
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| DNA Res 5(3):169-76. 1998
|