Chromosomes, Human

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  Subject Areas on Research

  • A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 
  • A high-density screen for linkage in multiple sclerosis. 
  • A new locus for familial FSGS on chromosome 2p. 
  • A physical map of 30,000 human genes. 
  • Advances in the molecular genetics of corneal dystrophies. 
  • Age at onset in two common neurodegenerative diseases is genetically controlled. 
  • An autosomal genomic screen for dementia in an extended Amish family. 
  • An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. 
  • An integrated encyclopedia of DNA elements in the human genome. 
  • An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. 
  • Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy. 
  • Assessment of day-3 morphology and euploidy for individual chromosomes in embryos that develop to the blastocyst stage. 
  • Assignment of human protein phosphatase 2A regulatory subunit genes b56alpha, b56beta, b56gamma, b56delta, and b56epsilon (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12. 
  • Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population. 
  • B56-PP2A regulates motor dynamics for mitotic chromosome alignment. 
  • Beta satellite DNA: characterization and localization of two subfamilies from the distal and proximal short arms of the human acrocentric chromosomes. 
  • Centromeres of human chromosomes. 
  • Characterization of gene expression in human trabecular meshwork using single-pass sequencing of 1060 clones. 
  • Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. 
  • Chromosomal alterations detected by comparative genomic hybridization in subgroups of gene expression-defined Burkitt's lymphoma. 
  • Chromosomal organization of adrenergic receptor genes. 
  • Chromosome-specific organization of human alpha satellite DNA. 
  • Chromosome-specific subsets of human alpha satellite DNA: analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat. 
  • Cohesin: it's not just for chromosomes anymore. 
  • Comparative genomic hybridization analysis of astrocytomas: prognostic and diagnostic implications. 
  • Concerted evolution of alpha satellite DNA: evidence for species specificity and a general lack of sequence conservation among alphoid sequences of higher primates. 
  • Dicentric chromosomes: unique models to study centromere function and inactivation. 
  • Distal nephron renal tumors: microsatellite allelotype. 
  • European Collaborative Project on Affective Disorders: interactions between genetic and psychosocial vulnerability factors. 
  • Evidence for coincident mutations in human lymphoblast clones selected for functional loss of a thymidine kinase gene. 
  • Evolution of alpha satellite. 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • Fast and robust association tests for untyped SNPs in case-control studies. 
  • Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans. 
  • Formation of de novo centromeres and construction of first-generation human artificial microchromosomes. 
  • Gender difference in smoking effect on chromosome sensitivity to gamma radiation in a healthy population. 
  • Genetic variation associated with circulating monocyte count in the eMERGE Network. 
  • Genome wide analysis and clinical correlation of chromosomal and transcriptional mutations in cancers of the biliary tract. 
  • Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL). 
  • Genomewide search for type 2 diabetes susceptibility genes in four American populations. 
  • Genomic mismatch scanning: a new approach to genetic linkage mapping. 
  • Heritable individual-specific and allele-specific chromatin signatures in humans. 
  • Heterogeneity of Genotypic and phenotypic characteristics of fifteen permanent cell lines derived from human gliomas. 
  • High-resolution mapping and characterization of open chromatin across the genome. 
  • Human centromere repositioning within euchromatin after partial chromosome deletion. 
  • Human centromeric chromatin is a dynamic chromosomal domain that can spread over noncentromeric DNA. 
  • Human gamma-satellite DNA maintains open chromatin structure and protects a transgene from epigenetic silencing. 
  • Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci. 
  • Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 
  • Long contiguous stretches of homozygosity in the human genome. 
  • Meta-analysis of loci associated with age at natural menopause in African-American women. 
  • Morphologic and molecular genetic aspects of oligodendroglial neoplasms. 
  • Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. 
  • Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes. 
  • PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. 
  • PCR amplification of chromosome-specific alpha satellite DNA: definition of centromeric STS markers and polymorphic analysis. 
  • Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. 
  • Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). 
  • Recombinant DNA Advisory Committee. Department of Health and Human Services. National Institutes of Health. Minutes of meeting. December 15-16, 1997. 
  • Regulation of mitotic chromosome cohesion by Haspin and Aurora B. 
  • Searching for epistatic interactions in nuclear families using conditional linkage analysis. 
  • Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. 
  • Survival analysis of presumptive prognostic markers among oligodendrogliomas. 
  • Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes. 
  • Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity. 
  • Temporal profile of replication of human chromosomes. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci. 
  • The genomics of long tandem arrays of satellite DNA in the human genome. 
  • Transcription inhibits the replication of autonomously replicating plasmids in human cells. 
  • Transcription of the terminal loop region of vaccinia virus DNA is initiated from the telomere sequences directing DNA resolution. 
  • Transfer of human chromosomes via human minisegregant cells into mouse cells and the quantitation of the expression of hypoxanthine phosphoribosyltransferase in the hybrids. 
  • Vector modifications to eliminate transposase expression following piggyBac-mediated transgenesis. 
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  Keywords of People

  • Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics, Molecular Genetics and Microbiology
  • Sullivan, Beth Ann, Associate Professor of Molecular Genetics and Microbiology, Duke Science & Society