Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

The lncRNAs at X Chromosome Inactivation Center: Not Just a Matter of Sex Dosage Compensation

(2022) Chiara Siniscalchi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies

(2022) Veronica Astro et al.   Frontiers in Cell and Developmental Biology

The Changing Face of Turner Syndrome

(2022) Claus H Gravholt et al.   ENDOCRINE REVIEWS

The emerging roles of circRNAs in cancer and oncology

(2021) Lasse S. Kristensen et al.   Nature Reviews Clinical Oncology

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

(2020) Xianglong Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Accurate quantification of circular RNAs identifies extensive circular isoform switching events

(2020) Jinyang Zhang et al.   Nature Communications

Tximeta: Reference sequence checksums for provenance identification in RNA-seq

(2020) Michael I. Love et al.   PLoS Computational Biology

The epidemiology of sex chromosome abnormalities

(2020) Agnethe Berglund et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

(2019) Agnethe Berglund et al.   Orphanet Journal of Rare Diseases

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1

(2019) Voellenkle et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Turner syndrome: mechanisms and management

(2019) Claus H. Gravholt et al.   Nature Reviews Endocrinology

The biogenesis, biology and characterization of circular RNAs

(2019) Lasse S. Kristensen et al.   NATURE REVIEWS GENETICS

Human induced pluripotent stem cells from two azoospermic patients with Klinefelter syndrome show similar X chromosome inactivation behavior to female pluripotent stem cells

(2019) Sarita Panula et al.   HUMAN REPRODUCTION

miRTarBase 2020: updates to the experimentally validated microRNA–target interaction database

(2019) Hsi-Yuan Huang et al.   NUCLEIC ACIDS RESEARCH

Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology

(2018) Claus H Gravholt et al.   ENDOCRINE REVIEWS

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Circular RNAs as novel regulators of β-cell functions in normal and disease conditions

(2018) Lisa Stoll et al.   Molecular Metabolism

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

(2018) Anne Skakkebæk et al.   Scientific Reports

Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation

(2017) Sofia B Winge et al.   HUMAN MOLECULAR GENETICS

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

(2017) Kirstine Belling et al.   HUMAN MOLECULAR GENETICS

Circ-ZNF609 Is a Circular RNA that Can Be Translated and Functions in Myogenesis

(2017) Ivano Legnini et al.   MOLECULAR CELL

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Salmon provides fast and bias-aware quantification of transcript expression

(2017) Rob Patro et al.   NATURE METHODS

Decreased miRNA expression in Klinefelter syndrome

(2017) Laura Cimino et al.   Scientific Reports

Comprehensive characterization of tissue-specific circular RNAs in the human and mouse genomes

(2016) Siyu Xia et al.   BRIEFINGS IN BIOINFORMATICS

A circular RNA protects the heart from pathological hypertrophy and heart failure by targeting miR-223

(2016) Kun Wang et al.   EUROPEAN HEART JOURNAL

Diverse alternative back-splicing and alternative splicing landscape of circular RNAs

(2016) Xiao-Ou Zhang et al.   GENOME RESEARCH

Widespread DNA hypomethylation and differential gene expression in Turner syndrome

(2016) Christian Trolle et al.   Scientific Reports

Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis

(2015) Marco D’Aurora et al.   BMC GENOMICS

Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome

(2015) Michael Zitzmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Global transcriptome analysis of peripheral blood identifies the most significantly down-regulated genes associated with metabolism regulation in Klinefelter syndrome

(2015) Jin Huang et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Genome-wide site-specific differential methylation in the blood of individuals with Klinefelter syndrome

(2015) Emily S. Wan et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations

(2015) Amit Sharma et al.   Clinical Epigenetics

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain

(2014) Joana Viana et al.   Epigenetics

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

(2014) Lauren J. Massingham et al.   HUMAN GENETICS

Adenovirus E1A Targets the DREF Nuclear Factor To Regulate Virus Gene Expression, DNA Replication, and Growth

(2014) S. Radko et al.   JOURNAL OF VIROLOGY

Human 45,X Fibroblast Transcriptome Reveals Distinct Differentially Expressed Genes Including Long Noncoding RNAs Potentially Associated with the Pathophysiology of Turner Syndrome

(2014) Shriram N. Rajpathak et al.   PLoS One

circBase: a database for circular RNAs

(2014) Petar Glažar et al.   RNA

Genome-wide Analysis of Drosophila Circular RNAs Reveals Their Structural and Sequence Properties and Age-Dependent Neural Accumulation

(2014) Jakub O. Westholm et al.   Cell Reports

voom: precision weights unlock linear model analysis tools for RNA-seq read counts

(2014) Charity W Law et al.   GENOME BIOLOGY

Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes

(2013) Ruosi Zhang et al.   BMC GENOMICS

Natural RNA circles function as efficient microRNA sponges

(2013) Thomas B. Hansen et al.   NATURE

Circular RNAs are a large class of animal RNAs with regulatory potency

(2013) Sebastian Memczak et al.   NATURE

starBase v2.0: decoding miRNA-ceRNA, miRNA-ncRNA and protein–RNA interaction networks from large-scale CLIP-Seq data

(2013) Jun-Hao Li et al.   NUCLEIC ACIDS RESEARCH

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency

(2012) Vladimir K. Bakalov et al.   JOURNAL OF AUTOIMMUNITY

Circular RNAs Are the Predominant Transcript Isoform from Hundreds of Human Genes in Diverse Cell Types

(2012) Julia Salzman et al.   PLoS One

microRNA expression profile of peripheral blood mononuclear cells of Klinefelter syndrome

(2012) WEIGUO SUI et al.   Experimental and Therapeutic Medicine

Autoimmunity and Turner's syndrome

(2011) Ana Lleo et al.   AUTOIMMUNITY REVIEWS

miRNA-dependent gene silencing involving Ago2-mediated cleavage of a circular antisense RNA

(2011) Thomas B Hansen et al.   EMBO JOURNAL

Genes that escape from X inactivation

(2011) Joel B. Berletch et al.   HUMAN GENETICS

Autoimmune diseases in women with Turner's Syndrome

(2010) Kristian T. Jørgensen et al.   ARTHRITIS AND RHEUMATISM

X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome

(2009) Vladimir K. Bakalov et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fatty Acid CoA Ligase-4 Gene Polymorphism Influences Fatty Acid Metabolism in Metabolic Syndrome, but not in Depression

(2009) Miroslav Zeman et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE