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Items: 1 to 20 of 156


Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.

Sagie S, Ellran E, Katzir H, Shaked R, Yehezkel S, Laevsky I, Ghanayim A, Geiger D, Tzukerman M, Selig S.

Hum Mol Genet. 2014 Jul 15;23(14):3629-40. doi: 10.1093/hmg/ddu071. Epub 2014 Feb 18.


Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions.

Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S.

Hum Mol Genet. 2008 Sep 15;17(18):2776-89. doi: 10.1093/hmg/ddn177. Epub 2008 Jun 16.


Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.

Yehezkel S, Shaked R, Sagie S, Berkovitz R, Shachar-Bener H, Segev Y, Selig S.

Front Oncol. 2013 Feb 28;3:35. doi: 10.3389/fonc.2013.00035. eCollection 2013.


Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.

Tao Q, Huang H, Geiman TM, Lim CY, Fu L, Qiu GH, Robertson KD.

Hum Mol Genet. 2002 Sep 1;11(18):2091-102.


Reprogramming of telomeric regions during the generation of human induced pluripotent stem cells and subsequent differentiation into fibroblast-like derivatives.

Yehezkel S, Rebibo-Sabbah A, Segev Y, Tzukerman M, Shaked R, Huber I, Gepstein L, Skorecki K, Selig S.

Epigenetics. 2011 Jan;6(1):63-75. doi: 10.4161/epi.6.1.13390. Epub 2011 Jan 1.


Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells.

Huang K, Wu Z, Liu Z, Hu G, Yu J, Chang KH, Kim KP, Le T, Faull KF, Rao N, Gennery A, Xue Z, Wang CY, Pellegrini M, Fan G.

Hum Mol Genet. 2014 Dec 15;23(24):6448-57. doi: 10.1093/hmg/ddu365. Epub 2014 Jul 15.


Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication.

Hassan KM, Norwood T, Gimelli G, Gartler SM, Hansen RS.

Hum Genet. 2001 Oct;109(4):452-62.


TERRA, CpG methylation and telomere heterochromatin: lessons from ICF syndrome cells.

Deng Z, Campbell AE, Lieberman PM.

Cell Cycle. 2010 Jan 1;9(1):69-74.


Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes.

Thijssen PE, Tobi EW, Balog J, Schouten SG, Kremer D, El Bouazzaoui F, Henneman P, Putter H, Eline Slagboom P, Heijmans BT, van der Maarel SM.

Epigenetics. 2013 May;8(5):512-21. doi: 10.4161/epi.24450. Epub 2013 Apr 17.


DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.

Lana E, Mégarbané A, Tourrière H, Sarda P, Lefranc G, Claustres M, De Sario A.

Eur J Hum Genet. 2012 Oct;20(10):1044-50. doi: 10.1038/ejhg.2012.41. Epub 2012 Feb 29.


The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM.

Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14412-7.


DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.

Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M.

Cytogenet Cell Genet. 2000;89(1-2):121-8.


Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.

Sagie S, Edni O, Weinberg J, Toubiana S, Kozlovski T, Frostig T, Katzin N, Bar-Am I, Selig S.

Hum Mol Genet. 2017 Nov 1;26(21):4244-4256. doi: 10.1093/hmg/ddx313.


Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.

Simo-Riudalbas L, Diaz-Lagares A, Gatto S, Gagliardi M, Crujeiras AB, Matarazzo MR, Esteller M, Sandoval J.

PLoS One. 2015 Jul 10;10(7):e0132517. doi: 10.1371/journal.pone.0132517. eCollection 2015.


DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, Fields CR, Delmas AL, Liu X, Qiu J, Robertson KD.

Hum Mol Genet. 2008 Mar 1;17(5):690-709. Epub 2007 Nov 20.


Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.

Brun ME, Lana E, Rivals I, Lefranc G, Sarda P, Claustres M, Mégarbané A, De Sario A.

PLoS One. 2011 Apr 29;6(4):e19464. doi: 10.1371/journal.pone.0019464.


Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).

Ehrlich M, Jackson K, Weemaes C.

Orphanet J Rare Dis. 2006 Mar 1;1:2. Review.


DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

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.

Hum Mol Genet. 2001 Dec 1;10(25):2917-31.


Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients.

Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C, Fischer A, Niveleau A, Viegas-Péquignot E.

Hum Mol Genet. 1994 Dec;3(12):2093-102.


TERRA: telomeric repeat-containing RNA.

Luke B, Lingner J.

EMBO J. 2009 Sep 2;28(17):2503-10. doi: 10.1038/emboj.2009.166. Epub 2009 Jul 23. Review.

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