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Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-56
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- Publication type:
- Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
- Published in:
- 2014
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- Publication type:
- journal article
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3735, doi. 10.3390/ijms22073735
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- Article
Mammalian Introns: When the Junk Generates Molecular Diversity.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 3, p. 4429, doi. 10.3390/ijms16034429
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- Article
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
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- Journal of Human Genetics, 2013, v. 58, n. 7, p. 455, doi. 10.1038/jhg.2013.56
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- Publication type:
- Article
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 10, p. 5739, doi. 10.1093/nar/gkx163
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- Publication type:
- Article
Short intron-derived ncRNAs.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 8, p. 4768, doi. 10.1093/nar/gkw1341
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- Publication type:
- Article
Steroid receptor RNA activator protein binds to and counteracts SRA RNA-mediated activation of MyoD and muscle differentiation.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 2, p. 513, doi. 10.1093/nar/gkq833
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- Publication type:
- Article
Non-coding murine centromeric transcripts associate with and potentiate Aurora B kinase.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 15, p. 5071, doi. 10.1093/nar/gkp529
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- Publication type:
- Article
Dynamic changes in transcription factor complexes during erythroid differentiation revealed by quantitative proteomics.
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- Nature Structural & Molecular Biology, 2004, v. 11, n. 1, p. 73, doi. 10.1038/nsmb713
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- Publication type:
- Article
NUCLEAR COMPARTMENTALIZATION AND GENE ACTIVITY.
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- Nature Reviews Molecular Cell Biology, 2000, v. 1, n. 2, p. 137, doi. 10.1038/35040083
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- Publication type:
- Article
CENP-A chromatin disassembly in stressed and senescent murine cells.
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- Scientific Reports, 2017, p. 42520, doi. 10.1038/srep42520
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- Publication type:
- Article
Identification of a dinucleotide signature that discriminates coding from non-coding long RNAs.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00316
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- Publication type:
- Article
c-Jun inhibits NF-E2 transcriptional activity in association with p18/maf in Friend erythroleukemia cells.
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- Oncogene, 1997, v. 14, n. 7, p. 873, doi. 10.1038/sj.onc.1200902
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- Publication type:
- Article
CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
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- 2019
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- Publication type:
- journal article
Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids.
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- Nature Communications, 2017, v. 8, n. 1, p. 14015, doi. 10.1038/ncomms14015
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- Publication type:
- Article
Genetics meets DNA methylation in rare diseases.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 210, doi. 10.1111/cge.13480
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- Publication type:
- Article
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
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- Journal of Clinical Immunology, 2016, v. 36, n. 2, p. 149, doi. 10.1007/s10875-016-0240-2
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- Publication type:
- Article
CDCA7 and HELLS suppress DNA:RNA hybrid-associated DNA damage at pericentromeric repeats.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-74636-2
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- Publication type:
- Article
Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases.
- Published in:
- Biology (2079-7737), 2014, v. 3, n. 3, p. 578, doi. 10.3390/biology3030578
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- Publication type:
- Article
Coding and Non-coding RNAs, the Frontier Has Never Been So Blurred.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00140
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- Publication type:
- Article
Regulation of telomeric function by DNA methylation differs between humans and mice.
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- Human Molecular Genetics, 2020, v. 29, n. 19, p. 3197, doi. 10.1093/hmg/ddaa206
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- Publication type:
- Article
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3568, doi. 10.1093/hmg/ddy265
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- Publication type:
- Article
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 14, p. 2409, doi. 10.1093/hmg/ddy130
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- Publication type:
- Article
BRCA1 prevents R-loop-associated centromeric instability.
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- Cell Death & Disease, 2021, v. 12, n. 10, p. 1, doi. 10.1038/s41419-021-04189-3
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- Article
DNA methylation in satellite repeats disorders.
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- Essays in Biochemistry, 2019, v. 63, n. 6, p. 757, doi. 10.1042/EBC20190028
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- Publication type:
- Article
A Tool to Design Bridging Oligos Used to Detect Pseudouridylation Sites on RNA after CMC Treatment.
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- Non-Coding RNA, 2022, v. 8, n. 5, p. 63, doi. 10.3390/ncrna8050063
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- Publication type:
- Article
Systematic Identification and Functional Validation of New snoRNAs in Human Muscle Progenitors.
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- Non-Coding RNA, 2021, v. 7, n. 3, p. 1, doi. 10.3390/ncrna7030056
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- Publication type:
- Article
Compartiments nucléaires d'hétérochromatine et répression génique : le modèle de la différenciation hématopolétique humaine.
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- Biologie Aujourd'hui, 2010, v. 204, n. 3, p. 221, doi. 10.1051/jbio/2010016
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- Publication type:
- Article