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Items: 1 to 20 of 101

1.

Structural basis of specific DNA binding by the transcription factor ZBTB24.

Ren R, Hardikar S, Horton JR, Lu Y, Zeng Y, Singh AK, Lin K, Coletta LD, Shen J, Lin Kong CS, Hashimoto H, Zhang X, Chen T, Cheng X.

Nucleic Acids Res. 2019 Jun 21. pii: gkz557. doi: 10.1093/nar/gkz557. [Epub ahead of print]

PMID:
31226215
2.

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.

Wu H, Thijssen PE, de Klerk E, Vonk KK, Wang J, den Hamer B, Aytekin C, van der Maarel SM, Daxinger L.

Hum Mol Genet. 2016 Sep 15;25(18):4041-4051. doi: 10.1093/hmg/ddw243. Epub 2016 Jul 27.

PMID:
27466202
3.

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

van den Boogaard ML, Thijssen PE, Aytekin C, Licciardi F, Kıykım AA, Spossito L, Dalm VASH, Driessen GJ, Kersseboom R, de Vries F, van Ostaijen-Ten Dam MM, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol MJD, Weemaes C, van der Maarel SM.

Clin Genet. 2017 Oct;92(4):380-387. doi: 10.1111/cge.12979. Epub 2017 Mar 7.

PMID:
28128455
4.

ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation.

Thompson JJ, Kaur R, Sosa CP, Lee JH, Kashiwagi K, Zhou D, Robertson KD.

Nucleic Acids Res. 2018 Nov 2;46(19):10034-10051. doi: 10.1093/nar/gky682.

5.

CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.

Unoki M, Funabiki H, Velasco G, Francastel C, Sasaki H.

J Clin Invest. 2019 Jan 2;129(1):78-92. doi: 10.1172/JCI99751. Epub 2018 Nov 19.

6.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM.

Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19.

7.

ZBTB24 regulates the apoptosis of human T cells via CDCA7/TRAIL-receptor axis.

Qin XY, Feng J, Chen G, Dou XW, Dai XQ, Dong HL, Gong FY, Xiao F, Zhao Y, Gao XM, Wang J.

Biochem Biophys Res Commun. 2019 Jun 18;514(1):259-265. doi: 10.1016/j.bbrc.2019.04.147. Epub 2019 Apr 26.

PMID:
31030944
8.

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.

Velasco G, Grillo G, Touleimat N, Ferry L, Ivkovic I, Ribierre F, Deleuze JF, Chantalat S, Picard C, Francastel C.

Hum Mol Genet. 2018 Jul 15;27(14):2409-2424. doi: 10.1093/hmg/ddy130.

PMID:
29659838
9.

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H.

J Hum Genet. 2013 Jul;58(7):455-60. doi: 10.1038/jhg.2013.56. Epub 2013 Jun 6.

PMID:
23739126
10.

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A.

Clin Genet. 2012 Nov;82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5.

PMID:
21906047
11.

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.

Toubiana S, Velasco G, Chityat A, Kaindl AM, Hershtig N, Tzur-Gilat A, Francastel C, Selig S.

Hum Mol Genet. 2018 Oct 15;27(20):3568-3581. doi: 10.1093/hmg/ddy265.

PMID:
30010917
12.

A functional assay to classify ZBTB24 missense variants of unknown significance.

Wu H, Vonk KKD, van der Maarel SM, Santen GWE, Daxinger L.

Hum Mutat. 2019 May 8. doi: 10.1002/humu.23786. [Epub ahead of print]

PMID:
31066130
13.

HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome.

Jenness C, Giunta S, Müller MM, Kimura H, Muir TW, Funabiki H.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):E876-E885. doi: 10.1073/pnas.1717509115. Epub 2018 Jan 16.

14.

Downregulation of ZBTB24 hampers the G0/1- to S-phase cell-cycle transition via upregulating the expression of IRF-4 in human B cells.

Liang J, Yan R, Chen G, Feng J, Wu WW, Ren W, Zhu C, Zhao Y, Gao XM, Wang J.

Genes Immun. 2016 Jul;17(5):276-82. doi: 10.1038/gene.2016.18. Epub 2016 Apr 21.

PMID:
27098601
15.

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.

Alghamdi HA, Tashkandi SA, Alidrissi EM, Aledielah RD, AlSaidi KA, Alharbi ES, Habazi MK, Alzahrani MS.

J Clin Immunol. 2018 Nov;38(8):847-853. doi: 10.1007/s10875-018-0569-9. Epub 2018 Dec 3. No abstract available.

PMID:
30511102
16.

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Velasco G, Walton EL, Sterlin D, Hédouin S, Nitta H, Ito Y, Fouyssac F, Mégarbané A, Sasaki H, Picard C, Francastel C.

Orphanet J Rare Dis. 2014 Apr 17;9:56. doi: 10.1186/1750-1172-9-56.

17.

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.

Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Erratum in: Nat Commun. 2016 Jun 22;7:12003.

18.

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.

Cerbone M, Wang J, Van der Maarel SM, D'Amico A, D'Agostino A, Romano A, Brunetti-Pierri N.

Am J Med Genet A. 2012 Aug;158A(8):2043-6. doi: 10.1002/ajmg.a.35486. Epub 2012 Jul 11.

19.

Structural metal sites in nonclassical zinc finger proteins involved in transcriptional and translational regulation.

Lee SJ, Michel SL.

Acc Chem Res. 2014 Aug 19;47(8):2643-50. doi: 10.1021/ar500182d. Epub 2014 Aug 6.

PMID:
25098749
20.

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.

PMID:
11741835

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