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

Conservation, acquisition, and functional impact of sex-biased gene expression in mammals

(2019) Sahin Naqvi et al.   SCIENCE

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

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

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Modeling gene regulation from paired expression and chromatin accessibility data

(2017) Zhana Duren et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Micro RNAs and DNA methylation are regulatory players in human cells with altered X chromosome to autosome balance

(2017) Shriram N. Rajpathak et al.   Scientific Reports

Deletion ofDXZ4on the human inactive X chromosome alters higher-order genome architecture

(2016) Emily M. Darrow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins

(2015) Y.-C. Kuo et al.   JOURNAL OF CELL SCIENCE

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

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Evidence for Epigenetic Alterations in Turner Syndrome Opens up Feasibility of New Pharmaceutical Interventions

(2014) Shriram Rajpathak et al.   CURRENT PHARMACEUTICAL DESIGN

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

Cognitive and neurological aspects of sex chromosome aneuploidies

(2014) David S Hong et al.   LANCET NEUROLOGY

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

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

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

(2013) Ruosi Zhang et al.   BMC GENOMICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

(2013) Allison M Cotton et al.   GENOME BIOLOGY

Sex Differences in the Human Brain and the Impact of Sex Chromosomes and Sex Hormones

(2012) E. Lentini et al.   CEREBRAL CORTEX

Expression reduction in mammalian X chromosome evolution refutes Ohno's hypothesis of dosage compensation

(2012) F. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

(2012) E. Pessia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autoimmunity and Turner's syndrome

(2011) Ana Lleo et al.   AUTOIMMUNITY REVIEWS

DNA methylation profiles of human active and inactive X chromosomes

(2011) A. J. Sharp et al.   GENOME RESEARCH

Regulation of X-chromosome inactivation by the X-inactivation centre

(2011) Sandrine Augui et al.   NATURE REVIEWS GENETICS

Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy

(2010) Anne Marie Ottesen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Long Noncoding RNA, Jpx, Is a Molecular Switch for X Chromosome Inactivation

(2010) Di Tian et al.   CELL

Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature

(2010) P. Kaiser et al.   CLINICAL GENETICS

Strong Purifying Selection at Genes Escaping X Chromosome Inactivation

(2010) C. Park et al.   MOLECULAR BIOLOGY AND EVOLUTION

RNA sequencing shows no dosage compensation of the active X-chromosome

(2010) Yuanyan Xiong et al.   NATURE GENETICS

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

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

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant

(2008) Martina Höckner et al.   FERTILITY AND STERILITY

The septin family of GTPases: architecture and dynamics

(2008) Christine S. Weirich et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY