| 1 | DNMT3B, ICF, ICF1, ZBTB24
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| Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
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| Weemaes CM, van Tol MJ, Wang J, van Ostaijen-Ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM.
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| Eur J Hum Genet 21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13.
2013
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| 2 | DNMT3B, ICF
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| DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
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| Lana E, Mégarbané A, Tourrière H, Sarda P, Lefranc G, Claustres M, De Sario A.
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| Eur J Hum Genet 20(10):1044-50. doi: 10.1038/ejhg.2012.41. Epub 2012 Feb 29.
2012
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| 3 | DNMT3B, ICF
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| Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome.
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| Gatto S, Della Ragione F, Cimmino A, Strazzullo M, Fabbri M, Mutarelli M, Ferraro L, Weisz A, D'Esposito M, Matarazzo MR.
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| Epigenetics 5(5):427-43. Epub 2010 Jul 1.
2010
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| 4 | ICF, DNMT3B
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| Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
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| Hagleitner MM, Lankester A, Maraschio P, HultŽn M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM.
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| J Med Genet 45(2):93-9. Epub 2007 Sep 24. 2008
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| 5 | ICF
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| Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions.
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| Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S.
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| Hum Mol Genet 17(18):2776-89. Epub 2008 Jun 16.
2008
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| 6 | DNMT3B, ICF
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| DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.
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| Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, Fields CR, Delmas AL, Liu X, Qiu J, Robertson KD.
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| Hum Mol Genet 17(5):690-709. Epub 2007 Nov 20.
2008
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| 7 | DNMT3B, ICF
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| DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1.
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| Park J, Kim TY, Jung Y, Song SH, Kim SH, Oh DY, Im SA, Bang YJ.
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| J Mol Med 86(11):1269-77. Epub 2008 Sep 2.
2008
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| 8 | ICF, DNMT3B
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| ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.
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| Schuetz C, Barbi G, Barth TF, Hoenig M, Schulz A, Moeller P, Smeets D, de Greef JC, van der Maarel SM, Vogel W, Debatin KM, Friedrich W.
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| Am J Med Genet A 143(17):2052-7. 2007
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| 9 | ICF, RTT, FSHMD1A
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| Altered gene silencing and human diseases.
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| Perini G, Tupler R.
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| Clin Genet 69(1):1-7. 2006
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| 10 | DNMT3B, ICF
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| Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.
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| Xie ZH, Huang YN, Chen ZX, Riggs AD, Ding JP, Gowher H, Jeltsch A, Sasaki H, Hata K, Xu GL.
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| Hum Mol Genet 15(9):1375-85. Epub 2006 Mar 16. 2006
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| 11 | ICF
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| Subcellular distribution of HP1 proteins is altered in ICF syndrome.
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| Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Megarbane A, Moncla A, Mattei MG.
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| Eur J Hum Genet 13(1):41-51. 2005
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| 12 | DNMT3B, ICF
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| DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
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| Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hulten M, Jonveaux P, Maraschio P, Megarbane A, Moncla A, Viegas-Pequignot E.
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| Hum Mutat 25(1):56-63. 2005
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| 13 | ICF
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| A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.
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| Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Gungor T.
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| Am J Med Genet A 136A(1):31-37 [Epub ahead of print] 2005
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| 14 | DNMT3B, ICF
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| The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.
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| Ehrlich M.
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| Clin Immunol 109(1):17-28. Review.
2003
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| 15 | DNMT3B, ICF
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| DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
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| Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, Uicker W, Weemaes CM, Smeets D, Sperling K, Belohradsky BH, Tommerup N, Misek DE, Rouillard JM, Kuick R, Hanash SM.
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| Hum Mol Genet 10(25):2917-31. 2001
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| 16 | ICF
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| DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.
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| Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M.
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| Cytogenet Cell Genet 89(1-2):121-8. 2000
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| 17 | DNMT3B, G6PD, ICF, VAMP7
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| Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.
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| Hansen RS, Stoger R, Wijmenga C, Stanek AM, Canfield TK, Luo P, Matarazzo MR, D'Esposito M, Feil R, Gimelli G, Weemaes CM, Laird CD, Gartler SM.
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| Hum Mol Genet 9(18):2575-87. 2000
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| 18 | ICF
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| Early prenatal diagnosis of the ICF syndrome.
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| Bjorck EJ, Bui TH, Wijmenga C, Grandell U, Nordenskjold M.
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| Prenat Diagn 20(10):828-31. 2000
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| 19 | ICF, DNMT3B
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| Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
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| Wijmenga C, Hansen RS, Gimelli G, Bjorck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL.
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| Hum Mutat 16(6):509-17. Review. 2000
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| 20 | DNMT3B, ICF
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| The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
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| Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM.
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| Proc Natl Acad Sci U S A 96(25):14412-7 1999
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| 21 | DNMT3B, ICF
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| Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
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| Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Pequignot E.
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| Nature 402(6758):187-91 1999
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| 22 | ICF
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| Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.
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| Wijmenga C, et al.
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| Am J Hum Genet 63 : 803-809. 1998
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| 23 | ICF
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| A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.
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| Sumner AT, Mitchell AR, Ellis PM.
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| J Med Genet 35(10):833-5. 1998
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| 24 | ICF
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| ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.
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| Brown DC, Grace E, Sumner AT, Edmunds AT, Ellis PM.
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| Hum Genet 96(4):411-6. Review. 1995
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| 25 | ICF
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| ICF syndrome: a new case and review of the literature.
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| Smeets DF, Moog U, Weemaes CM, Vaes-Peeters G, Merkx GF, Niehof JP, Hamers G.
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| Hum Genet 94(3):240-6. Review. 1994
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| 26 | ICF
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| Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.
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| Turleau C, Cabanis MO, Girault D, Ledeist F, Mettey R, Puissant H, Prieur M, de Grouchy J.
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| Am J Med Genet 32(3):420-4. 1989
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