Chromosomes, Human, X

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  Subject Areas on Research

  • A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 
  • A manually curated functional annotation of the human X chromosome. 
  • Allele-specific distribution of RNA polymerase II on female X chromosomes. 
  • An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. 
  • Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. 
  • Ancient X chromosomes reveal contrasting sex bias in Neolithic and Bronze Age Eurasian migrations. 
  • Assessment of day-3 morphology and euploidy for individual chromosomes in embryos that develop to the blastocyst stage. 
  • Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. 
  • Clinical expression of Menkes disease in females with normal karyotype. 
  • Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition. 
  • Corticosteroids regulate epithelial cell differentiation and Hassall body formation in the human thymus. 
  • De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. 
  • Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis. 
  • Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease. 
  • Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 
  • Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men. 
  • Genetic determinants of serum testosterone concentrations in men. 
  • Genomic complexity identifies patients with aggressive chronic lymphocytic leukemia. 
  • Heritability of cardiovascular and personality traits in 6,148 Sardinians. 
  • Heritable individual-specific and allele-specific chromatin signatures in humans. 
  • High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. 
  • Histone modifications within the human X centromere region. 
  • Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy. 
  • Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. 
  • LAMP2 microdeletions in patients with Danon disease. 
  • MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis. 
  • Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. 
  • Maternal microchimerism in Hirschsprung's disease. 
  • Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. 
  • Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl. 
  • Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. 
  • No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis. 
  • Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment. 
  • Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association. 
  • Rare coding variants and X-linked loci associated with age at menarche. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. 
  • Telomere-to-telomere assembly of a complete human X chromosome. 
  • The DNA sequence of the human X chromosome. 
  • The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. 
  • The multiple causes of human SCID. 
  • Unmasking a role for sex chromosomes in gene silencing. 
  • X-APL: an improved family-based test of association in the presence of linkage for the X chromosome. 
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  Keywords of People

  • Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics, Molecular Genetics and Microbiology