{"entity": "researcher", "timestamp": "2026-08-15T06:37:18.013Z", "family": "Golovleva", "given": "Irina", "initials": "I", "orcid": "0000-0001-8741-0616", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/b12b365ee27e430c9d17c5c07c762e28.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/b12b365ee27e430c9d17c5c07c762e28"}}, "publications": [{"entity": "publication", "iuid": "ccc89c923390460e8b38dd70a66bd29a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ccc89c923390460e8b38dd70a66bd29a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ccc89c923390460e8b38dd70a66bd29a"}}, "title": "DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophy.", "authors": [{"family": "Westin", "given": "Ida Maria", "initials": "IM"}, {"family": "Landfors", "given": "Mattias", "initials": "M"}, {"family": "Giannopoulos", "given": "Antonios", "initials": "A"}, {"family": "Viberg", "given": "Andreas", "initials": "A"}, {"family": "Osterman", "given": "Pia", "initials": "P"}, {"family": "Bystr\u00f6m", "given": "Berit", "initials": "B"}, {"family": "Degerman", "given": "Sofie", "initials": "S"}, {"family": "Golovleva", "given": "Irina", "initials": "I", "orcid": "0000-0001-8741-0616", "researcher": {"href": "https://publications.scilifelab.se/researcher/b12b365ee27e430c9d17c5c07c762e28.json"}}], "type": "journal article", "published": "2023-02-11", "journal": {"title": "Cell. Mol. Life Sci.", "issn": "1420-9071", "volume": "80", "issue": "3", "pages": "62", "issn-l": "1420-682X"}, "abstract": "Late-onset Fuchs endothelial corneal dystrophy (FECD) is a disease affecting the corneal endothelium (CE), associated with a cytosine-thymine-guanine repeat expansion at the CTG18.1 locus in the transcription factor 4 (TCF4) gene. It is unknown whether CTG18.1 expansions affect global methylation including TCF4 gene in CE or whether global CE methylation changes at advanced age. Using genome-wide DNA methylation array, we investigated methylation in CE from FECD patients with CTG18.1 expansions and studied the methylation in healthy CE at different ages. The most revealing DNA methylation findings were analyzed by gene expression and protein analysis. 3488 CpGs had significantly altered methylation pattern in FECD though no substantial changes were found in TCF4. The most hypermethylated site was in a predicted promoter of aquaporin 1 (AQP1) gene, and the most hypomethylated site was in a predicted promoter of coagulation factor V (F5 for gene, FV for protein). In FECD, AQP1 mRNA expression was variable, while F5 gene expression showed a ~ 23-fold increase. FV protein was present in both healthy and affected CE. Further gene expression analysis of coagulation factors interacting with FV revealed a ~ 34-fold increase of thrombomodulin (THBD). THBD protein was detected only in CE from FECD patients. Additionally, we observed an age-dependent hypomethylation in elderly healthy CE.Thus, tissue-specific genome-wide and gene-specific methylation changes associated with altered gene expression were discovered in FECD. TCF4 pathological methylation in FECD because of CTG18.1 expansion was ruled out.", "doi": "10.1007/s00018-023-04714-x", "pmid": "36773096", "labels": {"Bioinformatics Long-term Support WABI": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9922242"}, {"db": "pii", "key": "10.1007/s00018-023-04714-x"}], "notes": [], "created": "2023-12-01T13:20:07.303Z", "modified": "2023-12-01T13:20:07.312Z"}, {"entity": "publication", "iuid": "21d32a75226c44a4ae6fd42d0495334f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/21d32a75226c44a4ae6fd42d0495334f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/21d32a75226c44a4ae6fd42d0495334f"}}, "title": "TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.", "authors": [{"family": "Viberg", "given": "Andreas", "initials": "A"}, {"family": "Westin", "given": "Ida Maria", "initials": "IM"}, {"family": "Golovleva", "given": "Irina", "initials": "I", "orcid": "0000-0001-8741-0616", "researcher": {"href": "https://publications.scilifelab.se/researcher/b12b365ee27e430c9d17c5c07c762e28.json"}}, {"family": "Bystr\u00f6m", "given": "Berit", "initials": "B", "orcid": "0000-0002-7965-8889", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4dc607a6b6e416fbc7c940ca7d06bf5.json"}}], "type": "journal article", "published": "2022-08-00", "journal": {"title": "Acta Ophthalmol", "issn": "1755-3768", "volume": "100", "issue": "5", "pages": "541-548", "issn-l": null}, "abstract": "Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 (TCF4) gene. This study investigates the prevalence of the cytosine-thymine-guanine (CTG)n repeat expansion in TCF4 among FECD patients in northern Sweden coupled to the phenotype.\n\nBlood samples were collected from 85 FECD cases at different stages. Short tandem repeat PCR and triplet repeat-primed PCR were applied in order to determine TCF4 (CTG)n genotype.\n\nA (CTG)n repeat expansion (n > 50) in TCF4 was identified in 76 of 85 FECD cases (89.4%) and in four of 102 controls (3.9%). The median (CTG)n repeat length was 81 (IQR 39.3) in mild FECD and 87 (IQR 13.0) in severe FECD (p = 0.01). A higher number of (CTG)n repeats in an expanded TCF4 allele increased the probability of severe FECD. Other ocular surgery was overrepresented in FECD cases without a (CTG)n repeat expansion (44.4%, n = 4) compared with 3.9% (n = 3) in FECD cases with an (CTG)n repeat expansion (p < 0.001).\n\nIn northern Sweden, the FECD phenotype is associated with (CTG)n expansion in the TCF4 gene, with nearly 90% of patients being hetero- or homozygous for (CTG)n expansion over 50 repeats. Furthermore, the severity of FECD was associated with the repeat length in the TCF4 gene. Ocular surgery might act as an environmental factor explaining the clinical disease in FECD without a repeat expansion in TCF4.", "doi": "10.1111/aos.15032", "pmid": "34644448", "labels": {"Clinical Genomics Ume\u00e5": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2022-12-05T11:15:45.365Z", "modified": "2022-12-05T11:15:45.417Z"}, {"entity": "publication", "iuid": "363b739d24b643d29fe3d400f87f1af9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/363b739d24b643d29fe3d400f87f1af9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/363b739d24b643d29fe3d400f87f1af9"}}, "title": "DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma.", "authors": [{"family": "Haider", "given": "Zahra", "initials": "Z", "orcid": "0000-0002-0759-3932", "researcher": {"href": "https://publications.scilifelab.se/researcher/4084e066170543e699dd116c8e7c05df.json"}}, {"family": "Landfors", "given": "Mattias", "initials": "M"}, {"family": "Golovleva", "given": "Irina", "initials": "I", "orcid": "0000-0001-8741-0616", "researcher": {"href": "https://publications.scilifelab.se/researcher/b12b365ee27e430c9d17c5c07c762e28.json"}}, {"family": "Erlanson", "given": "Martin", "initials": "M"}, {"family": "Schmiegelow", "given": "Kjeld", "initials": "K"}, {"family": "Fl\u00e6gstad", "given": "Trond", "initials": "T"}, {"family": "Kanerva", "given": "Jukka", "initials": "J"}, {"family": "Nor\u00e9n-Nystr\u00f6m", "given": "Ulrika", "initials": "U"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}], "type": "journal article", "published": "2020-04-28", "journal": {"title": "Blood Cancer J", "issn": "2044-5385", "issn-l": "2044-5385", "volume": "10", "issue": "4", "pages": "45"}, "abstract": "Despite having common overlapping immunophenotypic and morphological features, T-cell lymphoblastic leukemia (T-ALL) and lymphoma (T-LBL) have distinct clinical manifestations, which may represent separate diseases. We investigated and compared the epigenetic and genetic landscape of adult and pediatric T-ALL (n = 77) and T-LBL (n = 15) patient samples by high-resolution genome-wide DNA methylation and Copy Number Variation (CNV) BeadChip arrays. DNA methylation profiling identified the presence of CpG island methylator phenotype (CIMP) subgroups within both pediatric and adult T-LBL and T-ALL. An epigenetic signature of 128 differentially methylated CpG sites was identified, that clustered T-LBL and T-ALL separately. The most significant differentially methylated gene loci included the SGCE/PEG10 shared promoter region, previously implicated in lymphoid malignancies. CNV analysis confirmed overlapping recurrent aberrations between T-ALL and T-LBL, including 9p21.3 (CDKN2A/CDKN2B) deletions. A significantly higher frequency of chromosome 13q14.2 deletions was identified in T-LBL samples (36% in T-LBL vs. 0% in T-ALL). This deletion, encompassing the RB1, MIR15A and MIR16-1 gene loci, has been reported as a recurrent deletion in B-cell malignancies. Our study reveals epigenetic and genetic markers that can distinguish between T-LBL and T-ALL, and deepen the understanding of the biology underlying the diverse disease localization.", "doi": "10.1038/s41408-020-0310-9", "pmid": "32345961", "labels": {"Clinical Genomics Ume\u00e5": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41408-020-0310-9"}, {"db": "pmc", "key": "PMC7188684"}], "notes": [], "created": "2021-06-18T12:10:04.144Z", "modified": "2021-12-08T14:16:53.085Z"}]}