{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina 450K array"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00010001261"],"sample_count":["33"],"description":["EGA dataset EGAD00010001261"],"repository":["EGA"],"title":["Array_dataset_TS"],"pubmed_abstract":["Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1)."],"pubmed_title":["Widespread DNA hypomethylation and differential gene expression in Turner syndrome."],"pubmed_authors":["Trolle Christian C, Nielsen Morten Muhlig MM, Skakkebæk Anne A, Lamy Philippe P, Vang Søren S, Hedegaard Jakob J, Nordentoft Iver I, Ørntoft Torben Falck TF, Pedersen Jakob Skou JS, Gravholt Claus Højbjerg CH"],"name_synonyms":["Data Set., microarray"],"pubmed_title_synonyms":["45, Status Bonnevie Ullrich, Turners Syndrome, Gene Expressions, X syndrome, Gonadal Dysgenesis, X), Gene, Bonnevie-Ullrich syndrome, X, Turner Varny syndrome, Bonnevie Ullrich Syndrome, Ullrich-Turner Syndrome., Expressions, Ullrich-Turner, gonadal dysgenesis (45, Turner's Syndrome, Monosomy X, Status Bonnevie-Ullrich, genital dwarfism, Bonnevie-Ullrich Syndrome, Syndrome, monosomy X, Ullrich-Turner syndrome, Ullrich Turner Syndrome, Expression, XO Gonadal Dysgenesis, XO, Schereshevkii Turner syndrome, gonadal dysgenesis Turner type, Turner type, chromosome X monosomy X"],"description_synonyms":["Clinical Study Case, True Case Status, Packaging Case, Illumina Sequencing Technology, Illumina., Illumina Sequencing, Case Dosing Unit, case, CASE, Case"],"pubmed_abstract_synonyms":["ruptured abdominal aortic aneurysm, Ribonucleic, menopause - premature, Fragile X-Associated, Other diseases of pericardium (disorder), Materials, Aneurysm, Cardiovascular disease, determination, Other pericardial disease NOS (disorder), abdominal aortic aneurysm, Other heart disease NOS (disorder), Cardiovascular disorder, PAPILLARY MUSCLE DIS NEC, Cardiac Event, SMADIP, [X]Other specified diseases of pericardium (disorder), element, Case Fatality Rates, AAA, between brain, Death Rates, unspecified, menopause praecox, POF, Disease of cardiovascular system (disorder), Protein kinase PKX1, X-Linked Hypergonadotropic Ovarian Failure, Other heart disease NOS, CVD, PKX1, autoimmunity, Excess Mortalities, Infertility, (2Z)-but-2-enedioate, Autoimmune, Non Polyadenylated, adult, Autoimmune condition, RNA Gene Products, male, multicellular organismal biosynthetic process, Premature, DiE, average, Cardiovascular Diseases, increased, single-organism biosynthetic process, thymus nucleic acid, Autoimmune disease, Genomes, Crude Mortality Rates, Fragile X Associated, [X]Other forms of heart disease (disorder), Fragile X-Associated Primary Ovarian Insufficiency, Other ill-defined heart disease (disorder), Premature Ovarian Failure, ruptured thoracic aneurysm, Other diseases of endocardium, chromatid, PMNC, X, Bonnevie Ullrich Syndrome, circulatory system disease, FMR1-Related Primary Ovarian Insufficiency, Sub-Fertility, Disorder of cardiovascular system, Status Bonnevie-Ullrich, scientific observation, CFR Case Fatality Rate, infertility, Gonadotropin-Resistant Ovary Syndrome, Ovarian Insufficiency, aortic aneurysm, Double-Stranded DNA, deoxyribonucleic acids, Age-Specific Death Rate, DNAn, Primary ovarian insufficiency, ruptured aortic aneurysm, Event, 45, Status Bonnevie Ullrich, Circulatory system disease NOS (disorder), inborn, wide/broad, ribose nucleic acid, Monosomies, premature ovarian failure, ruptured thoracic aortic aneurysm, frequency, ribonucleic acids, Crude Death, Disorder of circulatory system, PMN cell, Double-Stranded, hypergonadotrophic ovarian failure, Protein kinase X, premature menopause, female, results, disease of subdivision of hemolymphoid system, KABUK2, Crude Mortality, betweenbrain, (Deoxyribonucleotide)n+m, Turner's Syndrome, mature diencephalon, premature ovarian insufficiency, Fragile X Associated Primary Ovarian Insufficiency, Mortality, Premature ovarian failure, FMR1 Related Primary Ovarian Insufficiency, genital dwarfism, Ribonukleinsaeure, Adverse Cardiac Event, Diseases, HCI, Corpuscles, pentosenucleic acids, Genetic Materials, NOS, atomo, Ribonucleic acids, Madhip, Other pericardial disease NOS, Primary Ovarian Insufficiency, desoxyribose nucleic acid, atome, Adults, Schereshevkii Turner syndrome, Genetic Material, Turner type, CIRCULATORY DISEASE NOS, CARDIOVASC DIS, Pkare, Acid, Blood Cell, X-Linked, Element, Early menopause, death rate, maleate, atoms, X), Heterogeneity, Adverse Cardiac Events, Disorder of the circulatory system, Mortalities, thoracic aortic aneurysm, Bonnevie-Ullrich syndrome, [X]Other ill-defined heart diseases (disorder), whole genome, White Blood Corpuscles, surveillance, X Linked, thoracoabdominal aortic aneurysm, SARA, morbidity, White Blood Cells, white blood cell, Corpuscle, wide, Hypergonadotropic Ovarian Failure, Mortality Rate, Crude Death Rate, Monosomy X, Timp., Chromosome, Material, Bonnevie-Ullrich Syndrome, ILL-DEFINED HRT DIS NEC, ds DNA, hypergonadotropic hypogonadism (female), Ullrich-Turner syndrome, White, Cistron, tutx, Blood Corpuscles, aortic aneurysm (disease), DNA, XO, Mortality Determinant, EPA, Disease affecting entire cardiovascular system, X Linked Hypergonadotropic Ovarian Failure, accessory, polymorphonuclear cell, Ullrich-Turner Syndrome, TIMP, Cardiovascular Disorders, TIMP-1, Turners Syndrome, ASCVD, EPO, Menopause - premature, Cardiovascular system disease, DNS, Aneurysms, Menopause praecox, (Deoxyribonucleotide)n, primary female hypogonadism, Clgi, Mortality Declines, Gonadotropin Resistant Ovary Syndrome, Other heart disease (disorder), Autoimmune Disease, Excess, connatal, Gene, CLGI, early menopause, Aortic, Turner Varny syndrome, Crude Mortality Rate, Other diseases of pericardium, broad, Other disorders of papillary muscle, Adverse, mortality measurement, autoimmune hypersensitivity disease, supernumerary, White Blood Corpuscle, interbrain, Deoxyribonucleic acids, unspecified (disorder), Age-Specific Death, Mortality Determinants, Crude, Disorder of cardiovascular system (disorder), [X]Cardiovascular disease, Subfertility, Rate, Determinant, Cardiac, MADHIP, Fragile X Premature Ovarian Failure, Deoxyribonucleic Acid, PrKX, NSP, Genetic heterogeneity, hypersensitivity reaction type II disease, Gene Products, PPP1R173, Case Fatality, ruptured, XO Gonadal Dysgenesis, Other ill-defined heart disease NOS (disorder), Blood Corpuscle, Unspecified circulatory system disorder, gonadal dysgenesis Turner type, ruptured thoracoabdominal aortic aneurysm, Differential Mortality, study, Other diseases of endocardium (disorder), Excess Mortality, [X]Other specified diseases of pericardium, Genetic, thoracic aortic aneurysm which HAS ruptured, occurrence, prevalence, Other heart disease, Double Stranded, Other forms of heart disease, Climacterium praecox, Deoxyribonucleic acid, Age-Specific, Ullrich-Turner, Other specified pericardial disease NOS, hypergonadotropic hypogonadism, gonadal dysgenesis (45, Non-Polyadenylated RNA, Resistant Ovary Syndrome, cardiovascular disease, Reproductive Sterility, Syndrome, Mortality Rates, mortality rate, E030027L17, Crude Death Rates, Disease of cardiovascular system, (Deoxyribonucleotide)m, TAA, elements, Aortic Aneurysms, Age Specific Death Rate, Circulatory system disease NOS, Methylations, atom, incidence, Ovarian Failure, chromosome X monosomy X, OTHER SEQUELAE OF MI NEC, Morbidities, Autoimmunity, Reproductive, measuring, Autoimmune disorder, Disease, RNA, Other ill-defined heart diseases, Leukocyte, immune cell, Mortality Decline, female human body, Males, not elsewhere classified, DNAn+1, Serine|threonine-protein kinase PRKX, diencephalon, thalamencephalon, RNS, Primary, Disease affecting entire cardiovascular system (disorder), UTX, Utx, Cistrons, Other ill-defined heart disease, Case Fatality Rate, prophase chromosome, 2.7.11.1, Cardiac Events, survival, yeast nucleic acid, chemical analysis, Premature menopause, atomus, Ullrich Turner Syndrome, aortic aneurysm of unspecified site, methylation, ds-DNA, utx, Determinants, Death, Other forms of heart disease (disorder), Other ill-defined heart disease NOS, female hypergonadotropic hypogonadism, Premature Ovarian Failure 1, outbreaks, PERICARDIAL DISEASE NEC, uty, Other specified diseases of pericardium, Blood Cells, Rates, ribonucleic acid, Death Rate, Cardiovascular, leucocyte, X syndrome, [X]Other ill-defined heart diseases, increased number, interphase chromosome, Gonadal Dysgenesis, Non Polyadenylated RNA, Non-Polyadenylated, [X]Other forms of heart disease, Ribonucleic Acid, Age-Specific Death Rates, Other sequelae of myocardial infarction, endemics, Cardiovascular Disease, CVS disease, male human body, Protein kinase X-linked, present in greater numbers in organism, Differential, Other specified pericardial disease NOS (disorder), Hypergonadotropic amenorrhea, xtutx, Sterility, White Blood, monosomy X, Decline, Desoxyribonukleinsaeure, epidemics, Major Adverse Cardiac Events, assay, White Blood Cell, Females, Differential Mortalities, bA386N14.2"],"additional_accession":[]},"is_claimable":false,"name":"Array_dataset_TS","description":"DNAm Case samples using Illumina Infinium 450K","dates":{"updated":"2021-10-21 20:30:44"},"accession":"EGAD00010001261","cross_references":{"TAXONOMY":["9606"],"pubmed":["27687697"],"EGA":["EGAC00001000145","EGAS00001002190"]}}