-
1
-
-
34248167741
-
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF
-
PMID: 16722602
-
Ehrlich M, Jackson K, Weemaes C. (2006) Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis 1: 2. PMID: 16722602
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 2
-
-
Ehrlich, M.1
Jackson, K.2
Weemaes, C.3
-
2
-
-
84885945266
-
Heterogeneous clinical presentation in ICF syndrome: Correlation with underlying gene defects
-
PMID: 23486536
-
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE et al. (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 21(11):1219-25. doi: 10.1038/ejhg.2013.40 PMID: 23486536
-
(2013)
Eur J Hum Genet
, vol.21
, Issue.11
, pp. 1219-1225
-
-
Weemaes, C.M.1
Van Tol, M.J.2
Wang, J.3
Van Ostaijen-Ten, D.M.M.4
Van Eggermond, M.C.5
Thijssen, P.E.6
-
3
-
-
79958071640
-
ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation
-
PMID: 21549127 Jun 24
-
Moarefi AHI, Chédin F. (2011) ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation. J Mol Biol. Jun 24; 409(5):758-72. doi: 10. 1016/j.jmb.2011.04.050 PMID: 21549127
-
(2011)
J Mol Biol.
, vol.409
, Issue.5
, pp. 758-772
-
-
Moarefi, A.H.I.1
Chédin, F.2
-
4
-
-
0034162852
-
Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
-
PMID: 10699183
-
Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A et al. (2000) Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum Mol Genet. 9(4):597-604. PMID: 10699183
-
(2000)
Hum Mol Genet
, vol.9
, Issue.4
, pp. 597-604
-
-
Kondo, T.1
Bobek, M.P.2
Kuick, R.3
Lamb, B.4
Zhu, X.5
Narayan, A.6
-
5
-
-
0035667192
-
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
-
PMID: 11741835
-
Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, UickerWet al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet 10(25):2917-31. PMID: 11741835
-
(2001)
Hum Mol Genet
, vol.10
, Issue.25
, pp. 2917-2931
-
-
Ehrlich, M.1
Buchanan, K.L.2
Tsien, F.3
Jiang, G.4
Sun, B.5
Uicker, W.6
-
6
-
-
39749152283
-
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
-
PMID: 18029387
-
Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J et al. (2008) DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Hum Mol Genet 17(5):690-709. PMID: 18029387
-
(2008)
Hum Mol Genet
, vol.17
, Issue.5
, pp. 690-709
-
-
Jin, B.1
Tao, Q.2
Peng, J.3
Soo, H.M.4
Wu, W.5
Ying, J.6
-
7
-
-
79955782459
-
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome
-
PMID: 21559330
-
Brun ME, Lana E, Rivals I, Lefranc G, Sarda P, Claustres M et al. (2011). Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One 6(4):e19464. doi: 10.1371/journal.pone.0019464 PMID: 21559330
-
(2011)
PLoS One
, vol.6
, Issue.4
, pp. e19464
-
-
Brun, M.E.1
Lana, E.2
Rivals, I.3
Lefranc, G.4
Sarda, P.5
Claustres, M.6
-
8
-
-
84861920481
-
Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient
-
PMID: 22595875
-
Heyn H, Vidal E, Sayols S, Sanchez-Mut JV, Moran S, Medina I et al. (2012) Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics 7(6):542-50. doi: 10.4161/epi.20523 PMID: 22595875
-
(2012)
Epigenetics
, vol.7
, Issue.6
, pp. 542-550
-
-
Heyn, H.1
Vidal, E.2
Sayols, S.3
Sanchez-Mut, J.V.4
Moran, S.5
Medina, I.6
-
9
-
-
77954682167
-
Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome
-
PMID: 20448464
-
Gatto S, Della Ragione F, Cimmino A, Strazzullo M, Fabbri M, Mutarelli M et al. (2010) Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome. Epigenetics 5(5):427-43. PMID: 20448464
-
(2010)
Epigenetics
, vol.5
, Issue.5
, pp. 427-443
-
-
Gatto, S.1
Della Ragione, F.2
Cimmino, A.3
Strazzullo, M.4
Fabbri, M.5
Mutarelli, M.6
-
10
-
-
79958754527
-
Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome
-
PMID: 21593595
-
Sandoval J, Heyn HA, Moran S, Serra-Musach J, Pujana MA, Bibikova M et al. (2011) Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics 6(6):692-702. PMID: 21593595
-
(2011)
Epigenetics
, vol.6
, Issue.6
, pp. 692-702
-
-
Sandoval, J.1
Heyn, H.A.2
Moran, S.3
Serra-Musach, J.4
Pujana, M.A.5
Bibikova, M.6
-
11
-
-
80053304450
-
High density DNA methylation array with single CpG site resolution
-
PMID: 21839163
-
Bibikova M, Barnes B, Tsan C, Ho V, Klotzle B, Le JM et al. (2011) High density DNA methylation array with single CpG site resolution. Genomics 98(4):288-95. doi: 10.1016/j.ygeno.2011.07.007 PMID: 21839163
-
(2011)
Genomics
, vol.98
, Issue.4
, pp. 288-295
-
-
Bibikova, M.1
Barnes, B.2
Tsan, C.3
Ho, V.4
Klotzle Le B, J.M.5
-
12
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
PMID: 11846609
-
Livak KJ and Schmittgen TD. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25(4):402-8. PMID: 11846609
-
(2001)
Methods
, vol.25
, Issue.4
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
13
-
-
0028593842
-
Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
-
PMID: 7881405
-
Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C et al. (1994) Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum Mol Genet 3(12):2093-102. PMID: 7881405
-
(1994)
Hum Mol Genet
, vol.3
, Issue.12
, pp. 2093-2102
-
-
Miniou, P.1
Jeanpierre, M.2
Blanquet, V.3
Sibella, V.4
Bonneau, D.5
Herbelin, C.6
-
14
-
-
0030969206
-
Alpha-satellite DNA methylation in normal individuals and in ICF patients: Heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues
-
PMID: 9187666
-
Miniou P, Jeanpierre M, Bourc'his D, Coutinho Barbosa AC, Blanquet V and Viegas-Péquignot E. (1997) Alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. Hum Genet 99(6):738-45. PMID: 9187666
-
(1997)
Hum Genet
, vol.99
, Issue.6
, pp. 738-745
-
-
Miniou, P.1
Jeanpierre, M.2
Bourc'his, D.3
Coutinho Barbosa, A.C.4
Blanquet, V.5
Viegas-Péquignot, E.6
-
15
-
-
0034326857
-
Escape from gene silencing in ICF syndrome: Evidence for advanced replication time as a major determinant
-
PMID: 11063717
-
Hansen RS, Stöger R, Wijmenga C, Stanek AM, Canfield TK, Luo P et al. (2000) Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. Hum Mol Genet. 9(18):2575-87. PMID: 11063717
-
(2000)
Hum Mol Genet
, vol.9
, Issue.18
, pp. 2575-2587
-
-
Hansen, R.S.1
Stöger, R.2
Wijmenga, C.3
Stanek, A.M.4
Canfield, T.K.5
Luo, P.6
-
16
-
-
0036900494
-
Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and y chromosomes
-
PMID: 12444103
-
Matarazzo MR, De Bonis ML, Gregory RI, Vacca M, Hansen RS, Mercadante G et al. (2002) Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. Hum Mol Genet. 11(25):3191-8. PMID: 12444103
-
(2002)
Hum Mol Genet
, vol.11
, Issue.25
, pp. 3191-3198
-
-
Matarazzo, M.R.1
De Bonis, M.L.2
Gregory, R.I.3
Vacca, M.4
Hansen, R.S.5
Mercadante, G.6
-
17
-
-
33846573778
-
Multiple binding of methyl-CpG and polycomb proteins in long-term gene silencing events
-
PMID: 17133344
-
Matarazzo MR, De Bonis ML, Strazzullo M, Cerase A, Ferraro M, Vastarelli P et al. (2007). Multiple binding of methyl-CpG and polycomb proteins in long-term gene silencing events. J Cell Physiol. 210 (3):711-9. PMID: 17133344
-
(2007)
J Cell Physiol
, vol.210
, Issue.3
, pp. 711-719
-
-
Matarazzo, M.R.1
De Bonis, M.L.2
Strazzullo, M.3
Cerase, A.4
Ferraro, M.5
Vastarelli, P.6
-
18
-
-
0027286618
-
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
-
PMID: 8102570
-
Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A et al. (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet. 2(6):731-5. PMID: 8102570
-
(1993)
Hum Mol Genet
, vol.2
, Issue.6
, pp. 731-735
-
-
Jeanpierre, M.1
Turleau, C.2
Aurias, A.3
Prieur, M.4
Ledeist, F.5
Fischer, A.6
-
19
-
-
50849099769
-
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
-
PMID: 18558631
-
Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K and Selig S. (2008) Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions. Hum Mol Genet. 17(18):2776-89. doi: 10.1093/hmg/ddn177 PMID: 18558631
-
(2008)
Hum Mol Genet
, vol.17
, Issue.18
, pp. 2776-2789
-
-
Yehezkel, S.1
Segev, Y.2
Viegas-Péquignot, E.3
Skorecki, K.4
Selig, S.5
-
20
-
-
84892974636
-
Mining cancer methylomes: Prospects and challenges
-
PMID: 24368016
-
Stirzaker C, Taberlay PC, Statham AL, Clark SJ. (2014) Mining cancer methylomes: prospects and challenges. Trends Genet. 30(2):75-84. doi: 10.1016/j.tig.2013.11.004 PMID: 24368016
-
(2014)
Trends Genet
, vol.30
, Issue.2
, pp. 75-84
-
-
Stirzaker, C.1
Taberlay, P.C.2
Statham, A.L.3
Clark, S.J.4
-
21
-
-
59149084538
-
The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores
-
PMID: 19151715
-
Irizarry RA, Ladd-Acosta C, Wen B, Wu Z, Montano C, Onyango P et al. (2009) The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores. Nat Genet 41(2):178-86. doi: 10.1038/ng.298 PMID: 19151715
-
(2009)
Nat Genet
, vol.41
, Issue.2
, pp. 178-186
-
-
Irizarry, R.A.1
Ladd-Acosta, C.2
Wen, B.3
Wu, Z.4
Montano, C.5
Onyango, P.6
-
22
-
-
84858439628
-
Cancer epigenomics: Beyond genomics
-
PMID: 22402447
-
Sandoval J and Esteller M. (2012) Cancer epigenomics: beyond genomics. Curr Opin Genet Dev. 22 (1):50-5. doi: 10.1016/j.gde.2012.02.008 PMID: 22402447
-
(2012)
Curr Opin Genet Dev
, vol.22
, Issue.1
, pp. 50-55
-
-
Sandoval, J.1
Esteller, M.2
-
23
-
-
84899978054
-
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: Implications for diagnosis and etiology
-
PMID: 24742017
-
Velasco G, Walton EL, Sterlin D, Hédouin S, Nitta H, Ito Y et al. (2014) Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet J Rare Dis. 9:56. doi: 10.1186/1750-1172-9-56 PMID: 24742017
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 56
-
-
Velasco, G.1
Walton, E.L.2
Sterlin, D.3
Hédouin, S.4
Nitta, H.5
Ito, Y.6
-
24
-
-
84907555949
-
Dnmt3b prefers germ line genes and centromeric regions: Lessons from the ICF syndrome and cancer and implications for diseases
-
Walton EL, Francastel C and Velasco G. (2014) Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases. Biology (Basel) 3(3): 578-605.
-
(2014)
Biology (Basel)
, vol.3
, Issue.3
, pp. 578-605
-
-
Walton, E.L.1
Francastel, C.2
Velasco, G.3
-
25
-
-
84872734762
-
Expression pattern of Boule in dairy goat testis and its function in promoting the meiosis in male germline stem cells (mGSCs)
-
PMID: 22930651
-
Li M, Liu C, Zhu H, Sun J, Yu M, SongWet al. (2013) Expression pattern of Boule in dairy goat testis and its function in promoting the meiosis in male germline stem cells (mGSCs). J Cell Biochem. 114 (2):294-302. doi: 10.1002/jcb.24368 PMID: 22930651
-
(2013)
J Cell Biochem
, vol.114
, Issue.2
, pp. 294-302
-
-
Li, M.1
Liu, C.2
Zhu, H.3
Sun, J.4
Yu, M.5
Song, W.6
-
26
-
-
70449338047
-
Expression pattern of meiosis associated SYCP family members during germline development in chickens
-
PMID: 19525366
-
Zheng YH, Rengaraj D, Choi JW, Park KJ, Lee SI and Han JY. (2009) Expression pattern of meiosis associated SYCP family members during germline development in chickens. Reproduction 138 (3):483-92. doi: 10.1530/REP-09-0163 PMID: 19525366
-
(2009)
Reproduction
, vol.138
, Issue.3
, pp. 483-492
-
-
Zheng, Y.H.1
Rengaraj, D.2
Choi, J.W.3
Park, K.J.4
Lee, S.I.5
Han, J.Y.6
-
27
-
-
24044521055
-
Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis
-
PMID: 15870898
-
Wang H, Zhou Z, Lu L, Xu Z and Sha J. (2005) Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis. Int J Mol Med 15(6):949-53. PMID: 15870898
-
(2005)
Int J Mol Med
, vol.15
, Issue.6
, pp. 949-953
-
-
Wang, H.1
Zhou, Z.2
Lu, L.3
Xu, Z.4
Sha, J.5
-
28
-
-
84901778874
-
Non-coding RNAs in chromatin disease involving neurological defects
-
PMID: 24616662
-
Della Ragione F, Gagliardi M, D'Esposito M and Matarazzo MR. (2014) Non-coding RNAs in chromatin disease involving neurological defects Front Cell Neurosci. 8:54. doi: 10.3389/fncel.2014.00054 PMID: 24616662
-
(2014)
Front Cell Neurosci
, vol.8
, pp. 54
-
-
Della Ragione, F.1
Gagliardi, M.2
D'Esposito, M.3
Matarazzo, M.R.4
-
29
-
-
40849139208
-
Epigenetics in cancer
-
PMID: 18337604
-
Esteller M. (2008) Epigenetics in cancer. N Engl J Med 358(11):1148-59. doi: 10.1056/ NEJMra072067 PMID: 18337604
-
(2008)
N Engl J Med
, vol.358
, Issue.11
, pp. 1148-1159
-
-
Esteller, M.1
-
30
-
-
84898743002
-
DERL3- associated defect in the degradation of SLC2A1 mediates the Warburg effect
-
PMID: 24699711
-
Lopez-Serra P, Marcilla M, Villanueva A, Ramos-Fernandez A, Palau A, leal L et al. (2014) DERL3- associated defect in the degradation of SLC2A1 mediates the Warburg effect. Nat Commun. 5:3608. doi: 10.1038/ncomms4608 PMID: 24699711
-
(2014)
Nat Commun
, vol.5
, pp. 3608
-
-
Lopez-Serra, P.1
Marcilla, M.2
Villanueva, A.3
Ramos-Fernandez, A.4
Palau, A.5
Leal, L.6
-
31
-
-
84884382332
-
MIR-221/ 222 target the DNA methyltransferase MGMT in glioma cells
-
PMID: 24147153
-
Quintavalle C, Mangani D, Roscigno G, Romano G, Diaz-Lagares A, Iaboni M et al. (2013) MiR-221/ 222 target the DNA methyltransferase MGMT in glioma cells. Plos One 8(9):e74466. doi: 10.1371/ journal.pone.0074466 PMID: 24147153
-
(2013)
Plos One
, vol.8
, Issue.9
, pp. e74466
-
-
Quintavalle, C.1
Mangani, D.2
Roscigno, G.3
Romano, G.4
Diaz-Lagares, A.5
Iaboni, M.6
-
32
-
-
77952695371
-
Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues
-
PMID: 20439742
-
Velasco G, Hube F, Rollin J, Neuillet D, Philippe C, Bouzinba-Segard H et al. (2010). Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues. Proc Natl Acad Sci U S A 107:9281-9286. doi: 10.1073/pnas.1000473107 PMID: 20439742
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 9281-9286
-
-
Velasco, G.1
Hube, F.2
Rollin, J.3
Neuillet, D.4
Philippe, C.5
Bouzinba-Segard, H.6
-
33
-
-
23144464171
-
Cancer/testis antigens, gametogenesis and cancer
-
PMID: 16034368
-
Simpson AJ, Caballero OL, Jungbluth A, Chen YT, Old LJ. (2005) Cancer/testis antigens, gametogenesis and cancer. Nat. Rev. Cancer 5: 615-625. PMID: 16034368
-
(2005)
Nat. Rev. Cancer
, vol.5
, pp. 615-625
-
-
Simpson, A.J.1
Caballero, O.L.2
Jungbluth, A.3
Chen, Y.T.4
Old, L.J.5
|