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Items: 1 to 20 of 52

1.
The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory
Varsha Poondi Krishnan, Barbara Morone, Shir Toubiana, Monika Krzak, Salvatore Fioriniello, Floriana Della Ragione, Maria Strazzullo, Claudia Angelini, Sara Selig, Maria R. Matarazzo
Genome Res. 2023 Feb; 33(2): 169–183. doi: 10.1101/gr.276986.122
PMCID:
PMC10069469
AbstractArticlePDF–5.9M
2.
Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells
Sunny Das, Brian P. Chadwick
PLoS One. 2016; 11(7): e0160022. Published online 2016 Jul 28. doi: 10.1371/journal.pone.0160022
PMCID:
PMC4965136
AbstractArticlePDF–2.6M
3.
Marker Assisted Gene Pyramiding (MAGP) for bacterial blight and blast resistance into mega rice variety “Tellahamsa”
Md. Jamaloddin, Ch. V. Durga Rani, G. Swathi, Ch. Anuradha, S. Vanisri, C. P. D. Rajan, S. Krishnam Raju, V. Bhuvaneshwari, R. Jagadeeswar, G. S. Laha, M. S. Prasad, P. V. Satyanarayana, C. Cheralu, G. Rajani, E. Ramprasad, P. Sravanthi, N. Arun Prem Kumar, K. Aruna Kumari, K. N. Yamini, D. Mahesh, D. Sanjeev Rao, R. M. Sundaram, M. Sheshu Madhav
PLoS One. 2020; 15(6): e0234088. Published online 2020 Jun 19. doi: 10.1371/journal.pone.0234088
PMCID:
PMC7304612
AbstractArticlePDF–3.2M
4.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
Corry MR Weemaes, Maarten JD van Tol, Jun Wang, Monique M van Ostaijen-ten Dam, Marja CJA van Eggermond, Peter E Thijssen, Caner Aytekin, Nicola Brunetti-Pierri, Mirjam van der Burg, E Graham Davies, Alina Ferster, Dieter Furthner, Giorgio Gimelli, Andy Gennery, Barbara Kloeckener-Gruissem, Stephan Meyn, Cynthia Powell, Ismail Reisli, Catharina Schuetz, Ansgar Schulz, Andrea Shugar, Peter J van den Elsen, Silvère M van der Maarel
Eur J Hum Genet. 2013 Nov; 21(11): 1219–1225. Published online 2013 Mar 13. doi: 10.1038/ejhg.2013.40
PMCID:
PMC3798845
AbstractArticlePDF–553K
5.
Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction
Shir Toubiana, Miriam Gagliardi, Mariarosaria Papa, Roberta Manco, Maty Tzukerman, Maria R Matarazzo, Sara Selig
eLife. 2019; 8: e47859. Published online 2019 Nov 20. doi: 10.7554/eLife.47859
PMCID:
PMC6897513
AbstractArticlePDF–6.5M
6.
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology
Guillaume Velasco, Emma L Walton, Delphine Sterlin, Sabrine Hédouin, Hirohisa Nitta, Yuya Ito, Fanny Fouyssac, André Mégarbané, Hiroyuki Sasaki, Capucine Picard, Claire Francastel
Orphanet J Rare Dis. 2014; 9: 56. Published online 2014 Apr 17. doi: 10.1186/1750-1172-9-56
PMCID:
PMC4022050
AbstractArticlePDF–363K
7.
Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
Jessica C. de Greef, Jun Wang, Judit Balog, Johan T. den Dunnen, Rune R. Frants, Kirsten R. Straasheijm, Caner Aytekin, Mirjam van der Burg, Laurence Duprez, Alina Ferster, Andrew R. Gennery, Giorgio Gimelli, Ismail Reisli, Catharina Schuetz, Ansgar Schulz, Dominique F.C.M. Smeets, Yves Sznajer, Cisca Wijmenga, Marja C. van Eggermond, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Maarten J.D. van Tol, Peter J. van den Elsen, Corry M. Weemaes, Silvère M. van der Maarel
Am J Hum Genet. 2011 Jun 10; 88(6): 796–804. doi: 10.1016/j.ajhg.2011.04.018
PMCID:
PMC3113345
AbstractArticlePDF–677K
8.
Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells
Kevin Huang, Zhourui Wu, Zhenshan Liu, Ganlu Hu, Juehua Yu, Kai H. Chang, Kee-Pyo Kim, Thuc Le, Kym F. Faull, Nagesh Rao, Andrew Gennery, Zhigang Xue, Cun-yu Wang, Matteo Pellegrini, Guoping Fan
Hum Mol Genet. 2014 Dec 15; 23(24): 6448–6457. Published online 2014 Jul 15. doi: 10.1093/hmg/ddu365
PMCID:
PMC4240200
AbstractArticlePDF–797K
9.
Marker-assisted pyramiding of two major, broad-spectrum bacterial blight resistance genes, Xa21 and Xa33 into an elite maintainer line of rice, DRR17B
Balachiranjeevi C. H., Bhaskar Naik S., Abhilash Kumar V., Harika G., Mahadev Swamy H. K., Hajira Sk, Dilip Kumar T., Anila M., Kale R. R., Yugender A., Pranathi K., Koushik M. B. V. N., Suneetha K., Bhadana V. P., Hariprasad A. S., Laha G. S., Rekha G., Balachandran S. M., Madhav M. S., Senguttuvel P., Fiyaz A. R., Viraktamath B. C., Giri A., Swamy B. P. M., Jauhar Ali, Sundaram R. M.
PLoS One. 2018; 13(10): e0201271. Published online 2018 Oct 25. doi: 10.1371/journal.pone.0201271
PMCID:
PMC6201878
AbstractArticlePDF–2.1M
10.
ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming
Ankit Verma, Varsha Poondi Krishnan, Francesco Cecere, Emilia D’Angelo, Vincenzo Lullo, Maria Strazzullo, Sara Selig, Claudia Angelini, Maria R. Matarazzo, Andrea Riccio
Biomolecules. 2023 Dec; 13(12): 1717. Published online 2023 Nov 28. doi: 10.3390/biom13121717
PMCID:
PMC10741953
AbstractArticlePDF–2.5M
11.
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing
Sole Gatto, Miriam Gagliardi, Monica Franzese, Sylwia Leppert, Mariarosaria Papa, Marco Cammisa, Giacomo Grillo, Guillame Velasco, Claire Francastel, Shir Toubiana, Maurizio D’Esposito, Claudia Angelini, Maria R. Matarazzo
Nucleic Acids Res. 2017 Jun 2; 45(10): 5739–5756. Published online 2017 Mar 9. doi: 10.1093/nar/gkx163
PMCID:
PMC5449610
AbstractArticlePDF–5.9M
12.
DNMT3B Functions: Novel Insights From Human Disease
Miriam Gagliardi, Maria Strazzullo, Maria R. Matarazzo
Front Cell Dev Biol. 2018; 6: 140. Published online 2018 Oct 22. doi: 10.3389/fcell.2018.00140
PMCID:
PMC6204409
AbstractArticlePDF–1.1M
13.
Pyramiding aphid resistance genes into the elite cowpea variety, Zaayura, using marker-assisted backcrossing
Patrick Attamah, Francis Kusi, Alexander Wireko Kena, Frederick J. Awuku, Salim Lamini, Gloria Mensah, Mukhtaru Zackaria, Emmanuel Yaw Owusu, Richard Akromah
Heliyon. 2024 Jun 15; 10(11): e31976. Published online 2024 May 25. doi: 10.1016/j.heliyon.2024.e31976
PMCID:
PMC11167344
AbstractArticlePDF–4.6M
14.
Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome
L. Simo-Riudalbas, A. Diaz-Lagares, S. Gatto, M. Gagliardi, A. B. Crujeiras, M. R. Matarazzo, M. Esteller, J. Sandoval
PLoS One. 2015; 10(7): e0132517. Published online 2015 Jul 10. doi: 10.1371/journal.pone.0132517
PMCID:
PMC4498748
AbstractArticlePDF–2.9M
15.
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Fröhler, Karoline Strehl, Nadine Krämer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Kölsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M Kaindl
Orphanet J Rare Dis. 2014; 9: 116. Published online 2014 Oct 21. doi: 10.1186/s13023-014-0116-6
PMCID:
PMC4230835
AbstractArticlePDF–2.0M
16.
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Peter E. Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J. L. F. Lemmers, Jessica C. de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand Roquelaure, Tsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. van Ostaijen-Ten Dam, Maarten J. D. van Tol, Corry Weemaes, Claire Francastel, Silvère M. van der Maarel, Hiroyuki Sasaki
Nat Commun. 2015; 6: 7870. Published online 2015 Jul 28. doi: 10.1038/ncomms8870
Correction in:
Nat Commun. 2016; 7: 12003.
PMCID:
PMC4519989
AbstractArticlePDF–1.5M
17.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog, Mariëlle Wohlgemuth, Mari Auranen, Satomi Mitsuhashi, Patrick J. van der Vliet, Kirsten R. Straasheijm, Rob F.P. van den Akker, Marjolein Kriek, Marlies E.Y. Laurense-Bik, Vered Raz, Monique M. van Ostaijen-ten Dam, Kerstin B.M. Hansson, Elly L. van der Kooi, Sari Kiuru-Enari, Bjarne Udd, Maarten J.D. van Tol, Ichizo Nishino, Rabi Tawil, Stephen J. Tapscott, Baziel G.M. van Engelen, Silvère M. van der Maarel
Am J Hum Genet. 2016 May 5; 98(5): 1020–1029. Published online 2016 May 5. doi: 10.1016/j.ajhg.2016.03.013
PMCID:
PMC4863565
AbstractArticlePDF–2.3M
18.
Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient
Holger Heyn, Enrique Vidal, Sergi Sayols, Jose V. Sanchez-Mut, Sebastian Moran, Ignacio Medina, Juan Sandoval, Laia Simó-Riudalbas, Karolina Szczesna, Dori Huertas, Sole Gatto, Maria R. Matarazzo, Joaquin Dopazo, Manel Esteller
Epigenetics. 2012 Jun 1; 7(6): 542–550. doi: 10.4161/epi.20523
PMCID:
PMC3398983
AbstractArticlePDF–1.7M
19.
TERRA, CpG methylation and telomere heterochromatin: Lessons from ICF syndrome cells
Zhong Deng, Amy Campbell, Paul M. Lieberman
Cell Cycle. Author manuscript; available in PMC 2013 May 26.
Published in final edited form as: Cell Cycle. 2010 Jan 1; 9(1): 69–74. doi: 10.4161/cc.9.1.10358
PMCID:
PMC3664275
AbstractArticlePDF–1.9M
20.
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations
Erica Lana, André Mégarbané, Hélène Tourrière, Pierre Sarda, Gérard Lefranc, Mireille Claustres, Albertina De Sario
Eur J Hum Genet. 2012 Oct; 20(10): 1044–1050. Published online 2012 Feb 29. doi: 10.1038/ejhg.2012.41
PMCID:
PMC3449075
AbstractArticlePDF–424K

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