Genomic Imprinting

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  Subject Areas on Research

  • A gene atlas of the mouse and human protein-encoding transcriptomes. 
  • A paternal environmental legacy: evidence for epigenetic inheritance through the male germ line. 
  • A rheostat model for a rapid and reversible form of imprinting-dependent evolution. 
  • Abnormal postnatal maintenance of elevated DLK1 transcript levels in callipyge sheep. 
  • Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome. 
  • An N-ethyl-N-nitrosourea mutagenesis screen for epigenetic mutations in the mouse. 
  • An imprinted PEG1/MEST antisense expressed predominantly in human testis and in mature spermatozoa. 
  • An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. 
  • Association of cord blood methylation fractions at imprinted insulin-like growth factor 2 (IGF2), plasma IGF2, and birth weight. 
  • Association of parental hypertension with concentrations of select biomarkers in nonhypertensive offspring. 
  • Associations between antibiotic exposure during pregnancy, birth weight and aberrant methylation at imprinted genes among offspring. 
  • Associations between imprinted gene differentially methylated regions, appetitive traits and body mass index in children. 
  • Associations between prenatal physical activity, birth weight, and DNA methylation at genomically imprinted domains in a multiethnic newborn cohort. 
  • Cancer susceptibility: epigenetic manifestation of environmental exposures. 
  • Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. 
  • Cohabitation and pregnancy-induced hypertension. 
  • Computational and experimental identification of novel human imprinted genes. 
  • Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica. 
  • DNA methylation at imprint regulatory regions in preterm birth and infection. 
  • DNA methylation of imprinted gene control regions in the regression of low-grade cervical lesions. 
  • DNA methylation of imprinted genes at birth is associated with child weight status at birth, 1 year, and 3 years. 
  • DNA methylation of imprinted genes in Mexican-American newborn children with prenatal phthalate exposure. 
  • De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. 
  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 
  • Deletion of the Imprinted Gene Grb10 Promotes Hematopoietic Stem Cell Self-Renewal and Regeneration. 
  • Depression in pregnancy, infant birth weight and DNA methylation of imprint regulatory elements. 
  • Differentially methylated regions of imprinted genes in prenatal, perinatal and postnatal human tissues. 
  • Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. 
  • Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary. 
  • Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. 
  • Ectopic expression of DLK1 protein in skeletal muscle of padumnal heterozygotes causes the callipyge phenotype. 
  • Embryonic germ cell lines and their derivation from mouse primordial germ cells. 
  • Environmental epigenomics and disease susceptibility. 
  • Epigenetic detection of human chromosome 14 uniparental disomy. 
  • Epigenetic regulation of Newborns' imprinted genes related to gestational growth: patterning by parental race/ethnicity and maternal socioeconomic status. 
  • Epigenetics and human disease. 
  • Erythrocyte folate concentrations, CpG methylation at genomically imprinted domains, and birth weight in a multiethnic newborn cohort. 
  • Examination of factors associated with instability of the FMR1 CGG repeat. 
  • Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. 
  • Frequent IGF2/H19 domain epigenetic alterations and elevated IGF2 expression in epithelial ovarian cancer. 
  • GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. 
  • Gender-specific methylation differences in relation to prenatal exposure to cigarette smoke. 
  • Genetics of a difference in cuticular hydrocarbons between Drosophila pseudoobscura and D. persimilis. 
  • Genome-wide identification of autosomal genes with allelic imbalance of chromatin state. 
  • Genome-wide prediction of imprinted murine genes. 
  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. 
  • Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. 
  • Imprint regulatory elements as epigenetic biosensors of exposure in epidemiological studies. 
  • Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. 
  • Imprinted expression of the canine IGF2R, in the absence of an anti-sense transcript or promoter methylation. 
  • Imprinted genes as potential genetic and epigenetic toxicologic targets. 
  • Imprinting evolution and the price of silence. 
  • Imprinting in Angelman and Prader-Willi syndromes. 
  • Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior. 
  • Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development. 
  • Lack of genomic imprinting of DNA primase, polypeptide 2 (PRIM2) in human term placenta and white blood cells. 
  • M6P/IGF2R imprinting evolution in mammals. 
  • Maternal inflammatory diet and adverse pregnancy outcomes: Circulating cytokines and genomic imprinting as potential regulators? 
  • Maternal lineages and Alzheimer disease risk in the Old Order Amish. 
  • Maternal vitamin D, DNA methylation at imprint regulatory regions and offspring weight at birth, 1 year and 3 years. 
  • Mouse embryonic germ (EG) cell lines: transmission through the germline and differences in the methylation imprint of insulin-like growth factor 2 receptor (Igf2r) gene compared with embryonic stem (ES) cell lines. 
  • Neuroscience: Imprinting in the brain. 
  • Newborns of obese parents have altered DNA methylation patterns at imprinted genes. 
  • Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. 
  • Novel retrotransposed imprinted locus identified at human 6p25. 
  • Obesity-related DNA methylation at imprinted genes in human sperm: Results from the TIEGER study. 
  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 
  • Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. 
  • Phylogenetic footprint analysis of IGF2 in extant mammals. 
  • Quantitative analysis of gene function in the Drosophila embryo. 
  • RNAi-mediated allelic trans-interaction at the imprinted Rtl1/Peg11 locus. 
  • Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. 
  • Studies of molecular mechanisms associated with increased deiodinase 3 expression in a case of consumptive hypothyroidism. 
  • Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome. 
  • The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. 
  • The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility. 
  • The imprinted H19 noncoding RNA is a primary microRNA precursor. 
  • The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2. 
  • Three probands with autistic disorder and isodicentric chromosome 15. 
  • Tissue-specific inactivation of murine M6P/IGF2R. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Hartemink, Alexander J., Professor in the Department of Computer Science, Biology
  • Hogan, Brigid L. M., George Barth Geller Distinguished Professor of Immunology, Cell Biology
  • Murphy, Susan Kay, Associate Professor in Obstetrics and Gynecology, Pathology