beckwith wiedemann syndrome

Summary

Summary: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

Top Publications

  1. ncbi Beckwith-Wiedemann syndrome
    Rosanna Weksberg
    University of Toronto, Canada
    Am J Med Genet C Semin Med Genet 137:12-23. 2005
  2. pmc Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
    E R Maher
    J Med Genet 40:62-4. 2003
  3. pmc The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
    S Rossignol
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    J Med Genet 43:902-7. 2006
  4. pmc Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
    Am J Hum Genet 72:156-60. 2003
  5. ncbi Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1
    Galina V Fitzpatrick
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Nat Genet 32:426-31. 2002
  6. pmc Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
    J Eggenschwiler
    Department of Genetics and Development, Columbia University, New York, New York 10032, USA
    Genes Dev 11:3128-42. 1997
  7. ncbi The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster
    Flavia Cerrato
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 14:503-11. 2005
  8. doi Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
    R H Scott
    J Med Genet 45:106-13. 2008
  9. pmc A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
    N J Smilinich
    Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Proc Natl Acad Sci U S A 96:8064-9. 1999
  10. ncbi Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
    K W Brown
    Department of Pathology and Microbiology, School of Medical Sciences, Bristol, UK
    Hum Mol Genet 5:2027-32. 1996

Research Grants

  1. Molecular and Cellular Regulation of Mammalian Renal Medulla Development
    Jing Yu; Fiscal Year: 2013
  2. Effects of Bisphenol A Exposure on Genomic Imprinting in the Mouse
    Martha Susiarjo; Fiscal Year: 2012
  3. Stability of epigenetic structures in ART children
    Carmen Sapienza; Fiscal Year: 2010
  4. Epigenetic Regulation of Imprinting in Mouse Embryo
    Marisa S Bartolomei; Fiscal Year: 2012
  5. SEQUENCES CONTROLLING H19 GENE IMPRINTING
    Marisa S Bartolomei; Fiscal Year: 2013
  6. Polycomb complexes targeted to specific loci by non-coding RNA co-factors
    Jeannie T Lee; Fiscal Year: 2013
  7. Establishment of a phenotypical model of adverse outcomes associated with ART
    KEVIN DALE WELLS; Fiscal Year: 2011
  8. Mutually Exclusive Odorant Receptor Regulation
    Robert P Lane; Fiscal Year: 2013
  9. SEQUENCES CONTROLLING H19 GENE IMPRINTING
    Marisa S Bartolomei; Fiscal Year: 2010
  10. EPIGENETIC REGULATION IN A CANCER ASSOCIATED REGION
    Michael J Higgins; Fiscal Year: 2012

Detail Information

Publications216 found, 100 shown here

  1. ncbi Beckwith-Wiedemann syndrome
    Rosanna Weksberg
    University of Toronto, Canada
    Am J Med Genet C Semin Med Genet 137:12-23. 2005
    ..In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling...
  2. pmc Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
    E R Maher
    J Med Genet 40:62-4. 2003
  3. pmc The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
    S Rossignol
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    J Med Genet 43:902-7. 2006
    ..However, it is unknown whether this epigenetic imprinting error is random or restricted to a specific imprinted domain...
  4. pmc Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
    Am J Hum Genet 72:156-60. 2003
    ..We discuss the implications of our finding that ART is associated with human overgrowth, similar to the large offspring syndrome reported in ruminants...
  5. ncbi Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1
    Galina V Fitzpatrick
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Nat Genet 32:426-31. 2002
    ..These findings support the hypothesis that loss of methylation in BWS patients activates the repressive function of KvDMR1 on the maternal chromosome, resulting in abnormal silencing of CDKN1C and the development of BWS...
  6. pmc Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
    J Eggenschwiler
    Department of Genetics and Development, Columbia University, New York, New York 10032, USA
    Genes Dev 11:3128-42. 1997
    ....
  7. ncbi The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster
    Flavia Cerrato
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 14:503-11. 2005
    ....
  8. doi Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
    R H Scott
    J Med Genet 45:106-13. 2008
    ....
  9. pmc A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
    N J Smilinich
    Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Proc Natl Acad Sci U S A 96:8064-9. 1999
    ..We propose that KvDMR1 and/or its associated antisense RNA (KvLQT1-AS) represents an additional imprinting control element or center in the human 11p15.5 and mouse distal 7 imprinted domains...
  10. ncbi Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
    K W Brown
    Department of Pathology and Microbiology, School of Medical Sciences, Bristol, UK
    Hum Mol Genet 5:2027-32. 1996
    ..DNA methylation in IGF2 remained monoallelic, suggesting that the mutation in this family had uncoupled allele-specific methylation from expression...
  11. pmc In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene
    Christine Gicquel
    Am J Hum Genet 72:1338-41. 2003
  12. ncbi Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome
    P Zhang
    Verna and Marrs McLean Department of Biochemistry, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 387:151-8. 1997
    ....
  13. ncbi Analysis of CDKN1C in Beckwith Wiedemann syndrome
    E Algar
    Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    Hum Mutat 15:497-508. 2000
    In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS...
  14. ncbi Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
    R Weksberg
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Hum Mol Genet 10:2989-3000. 2001
    ..This suggests that distinct tumor predisposition profiles result from dysregulation of the telomeric domain versus the centromeric domain and that these imprinting defects activate distinct genetic pathways for embryonal tumorigenesis...
  15. ncbi Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia
    Carol L Clericuzio
    Department of Pediatrics, University of New Mexico, ACC 3, Albuquerque, NM 87131, USA
    J Pediatr 143:270-2. 2003
    ..We describe five children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia for whom serial serum alpha-fetoprotein screening, usually in combination with abdominal ultrasound, led to early detection of hepatoblastoma...
  16. ncbi LIT1 and H19 methylation defects in isolated hemihyperplasia
    Rick A Martin
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet A 134:129-31. 2005
    ..Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome...
  17. pmc Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome
    V Grandjean
    University of Cambridge, Department of Anatomy, Downing Street, CB2 3DY Cambridge, United Kingdom
    Proc Natl Acad Sci U S A 97:5279-84. 2000
    ..In addition, p57(kip2) expression is down-regulated in mice with high serum levels of IGF-II. These data suggest that the effects of increased IGF-II in BWS may, in part, be mediated through a decrease in p57(kip2) gene expression...
  18. ncbi Late relapse of adrenocortical carcinoma in Beckwith-Wiedemann syndrome. Clinical, endocrinological and genetic aspects
    N T Hertel
    Department of Paediatrics, Odense University Hospital, Odense, Denmark
    Acta Paediatr 92:439-43. 2003
    ..Twenty-two months after the recurrence the girl died of an intracranial metastasis. Southern blot analysis of the LITI transcript in the KvLQT1 gene in the BWS region on chromosome 11p15 revealed hypomethylation of the maternal allele...
  19. ncbi Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5
    M Paulsen
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB2 4AT, UK
    Hum Mol Genet 7:1149-59. 1998
    ..Our study opens the way for a systematic analysis of the cluster by genetic manipulation in the mouse which will lead to animal models of Beckwith-Wiedemann syndrome and childhood tumours...
  20. ncbi Wiedemann-Beckwith syndrome: further prenatal characterization of the condition
    Orit Reish
    Genetic Institute, Assaf Harofeh, Medical Center, Zerifin, Israel
    Am J Med Genet 107:209-13. 2002
    ....
  21. pmc Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
    N Diaz-Meyer
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    J Med Genet 40:797-801. 2003
    ..5. Cell culture based enhancer blocking assays indicate that KvDMR1 may function as a methylation modulated chromatin insulator and/or silencer...
  22. ncbi Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting
    S Engemann
    Max Planck Institut fur Molekulare Genetik, Ihnestrasse 73, D 14195 Berlin, Germany
    Hum Mol Genet 9:2691-706. 2000
    ..One of the genes outside the cluster, Obph1, is imprinted in mouse placenta indicating that at least in extra-embryonic tissues the imprinting cluster extends into a larger domain...
  23. ncbi Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
    Tiong Y Tan
    Genetic Health Services Victoria, Melbourne, Australia
    J Paediatr Child Health 42:486-90. 2006
    ..We critically review the evidence for tumour surveillance in Beckwith-Wiedemann syndrome and isolated hemihyperplasia and suggest local practice guidelines...
  24. pmc Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome
    Emily L Niemitz
    Predoctoral Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Am J Hum Genet 75:844-9. 2004
    ..When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans...
  25. ncbi Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies
    Cheryl Shuman
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 140:1497-503. 2006
    ..Of note, two of the eight patients with UPD and IH were conceived using assisted reproductive technologies (ART), thus raising the question whether ART might impact the rate of somatic recombination during embryonic development...
  26. pmc Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor
    Emily L Niemitz
    Predoctoral Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Am J Hum Genet 77:887-91. 2005
    ..0028). These results indicate that children with IH and Wilms tumor have different constitutional epigenotypes from those of children with BWS and Wilms tumor...
  27. pmc Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
    M P Lee
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 96:5203-8. 1999
    ....
  28. ncbi Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome
    F L Sun
    Laboratory of Developmental Genetics and Imprinting, Department of Development and Genetics, The Babraham Institute, Cambridge, UK
    Nature 389:809-15. 1997
    ..These phenotypes establish Igf2 overexpression as a key determinant of Beckwith-Wiedemann syndrome...
  29. ncbi An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
    I Hatada
    National Cardiovascular Center Research Institute, Osaka, Japan
    Nat Genet 14:171-3. 1996
    ..Consequently, little or no active p57KIP2 should exist and this probably causes the overgrowth in this BWS patient...
  30. ncbi Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome
    R M John
    Wellcome CRC Institute of Cancer and Developmental Biology, Tennis Court Road, Cambridge CB2 1QR, UK
    Hum Mol Genet 10:1601-9. 2001
    ..Therefore, BWS in humans may result from disruption of appropriate expression of the p57(KIP2) (CDKN1C) gene through mutations that occur at a substantial distance from the gene...
  31. ncbi Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse
    M Paulsen
    Max Planck Institut fur Molekulare Genetik, Ihnestrabetae 73, D 14195 Berlin, Germany
    Hum Mol Genet 9:1829-41. 2000
    ..This and additional comparisons with other imprinted and non-imprinted regions suggest that CpG islands are key features of imprinted domains...
  32. ncbi Placental mesenchymal dysplasia with beckwith-wiedemann syndrome fetus in the context of biparental and androgenic cell lines
    D H'mida
    Laboratoire de Cytogenetique, de Génétique Moléculaire et de Biologie de la Reproduction, Hôpital Farhat Hached, Sousse, Tunisia
    Placenta 29:454-60. 2008
    ..This represents a well-documented case of androgenic and biparental mixture of cell types in both fetal and placental tissues...
  33. ncbi LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
    K Mitsuya
    Department of Molecular and Cell Genetics, School of Life Sciences, Faculty of Medicine, Tottori University, Nishimachi, Yonago, Japan
    Hum Mol Genet 8:1209-17. 1999
    ..Thus, this positional approach using human monochromosomal hybrids could contribute to the efficient identification of imprinted loci in humans...
  34. ncbi Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome
    Wendy N Cooper
    1Medical and Molecular Genetics Section, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Eur J Hum Genet 13:1025-32. 2005
    ....
  35. pmc Imprinting errors and developmental asymmetry
    Timothy H Bestor
    Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, 701 West 168th Street, New York, NY 10032, USA
    Philos Trans R Soc Lond B Biol Sci 358:1411-5. 2003
    ....
  36. ncbi Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?
    Eamonn R Maher
    Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham, UK
    Hum Reprod 18:2508-11. 2003
    ..Addressing these questions should be a priority for research on cohorts of ART children...
  37. pmc Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome
    N Diaz-Meyer
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    J Med Genet 42:648-55. 2005
    ..Another group of BWS patients with downregulated CDKN1C expression but with normal methylation at KvDMR1 has been identified...
  38. pmc Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor
    Dirk Prawitt
    Children s Hospital, University of Mainz, Langenbeckstrasse 1, D 55101 Mainz, Germany
    Proc Natl Acad Sci U S A 102:4085-90. 2005
    ..Our results suggest that the combined effects of the H19/IGF2-imprinting center microdeletion and 11p15 chromosome duplication were necessary for manifestation of BWS...
  39. ncbi Assisted reproduction technology and defects of genomic imprinting
    Cathy Allen
    Human Assisted Reproduction Ireland, Rotunda Hospital, Dublin, Ireland
    BJOG 112:1589-94. 2005
    ....
  40. ncbi Fertility treatments: Seeds of doubt
    Kendall Powell
    Nature 422:656-8. 2003
  41. pmc The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
    Nadine Schönherr
    Institute of Human Genetics, Pauwelsstr 30, D 52074 Aachen, Germany
    J Med Genet 44:59-63. 2007
    ..This study provides evidence for a role for this imprinting centre in the aetiology of SRS and shows that SRS presents a picture genetically opposite to that of BWS...
  42. ncbi (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
    N Schönherr
    Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr 30, 52074 Aachen, Germany
    Eur J Med Genet 49:414-8. 2006
    ..While the ICR1 epimutation is detectable with a significant frequency only in SRS patients, its role for isolated growth retardation remains to be elucidated...
  43. ncbi Assisted reproductive therapies and imprinting disorders--a preliminary British survey
    A G Sutcliffe
    Department of Child Health, Royal Free and University College Medical School, Royal Free Hospital, London, UK
    Hum Reprod 21:1009-11. 2006
    ....
  44. ncbi Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development
    Rosanna Weksberg
    Institute of Medical Sciences, Department of Medical Genetics and Microbiology, University of Toronto, Ontario, Canada
    Hum Mol Genet 12:R61-8. 2003
    ..Finally, we discuss how knowledge of epigenetic mechanisms associated with the early stages of embryogenesis suggest caution in the current debate surrounding assisted reproductive and cloning technologies...
  45. ncbi Genomic imprinting and assisted reproductive technology: connections and potential risks
    Jennifer R Thompson
    Center for Research on Reproduction and Women s Health and Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Semin Reprod Med 23:285-95. 2005
    ....
  46. ncbi Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy
    Ryuji Fukuzawa
    Department of Pathology, Keio University, School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Pediatr Dev Pathol 6:299-306. 2003
    ..These data indicate that Wnt signal activation can be involved as a later event in BWS-associated hepatoblastoma involving 11p15.5 UPD...
  47. ncbi Imprinting and assisted reproductive technology
    Eamonn R Maher
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
    Hum Mol Genet 14:R133-8. 2005
    ....
  48. ncbi Genomic imprinting and kinship: how good is the evidence?
    David Haig
    Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA
    Annu Rev Genet 38:553-85. 2004
    ..The diverse effects of imprinted genes on the development of white adipose tissue (WAT) have so far defied a unifying hypothesis in terms of the kinship theory...
  49. ncbi Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation
    Grace Yoon
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, CA, USA
    J Pediatr 146:565-7. 2005
    ..We report a case of DZ twins conceived by ART in which all three problems coexist...
  50. ncbi Assisted reproductive technologies and birth defects
    Kohei Shiota
    Congenital Anomaly Research Center, Kyoto University Graduate School of Medicine, Kyoto 606 8501, Japan
    Congenit Anom (Kyoto) 45:39-43. 2005
    ..Here we review the human and animal studies investigating the potential risks of ART, and discuss the need for further investigation...
  51. ncbi Epigenetic deregulation of imprinting in congenital diseases of aberrant growth
    Katia Delaval
    Institute of Molecular Genetics, CNRS, UMR 5535, University of Montpellier II, France
    Bioessays 28:453-9. 2006
    ..Thus, fetal and postnatal growth is epigenetically controlled by different ICRs, at 11p15 and other chromosomal regions...
  52. ncbi Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
    Angela Sparago
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Nat Genet 36:958-60. 2004
    ..Maternal transmission of the deletions results in hypermethylation of the H19 DMR, biallelic IGF2 expression, H19 silencing and Beckwith-Wiedemann syndrome, indicative of loss of function of the IGF2-H19 imprinting control element...
  53. ncbi Are children born after assisted reproductive technology at increased risk for adverse health outcomes?
    Laura A Schieve
    Division of Reproductive Health, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
    Obstet Gynecol 103:1154-63. 2004
    ..Future research needs to address the unique methodological challenges underlying study in this area...
  54. ncbi Regulation of gene activity and repression: a consideration of unifying themes
    Anne C Ferguson-Smith
    Department of Anatomy, University of Cambridge, England
    Curr Top Dev Biol 60:197-213. 2004
  55. ncbi Beckwith-Wiedemann syndrome: multiple molecular mechanisms
    Thorsten Enklaar
    Section of Medical Genetics and Molecular Medicine, Children s Hospital, Johannes Gutenberg University of Mainz, 55101 Mainz, Germany
    Expert Rev Mol Med 8:1-19. 2006
    ..We then review the current concepts of causative molecular genetic and epigenetic mechanisms, and discuss future directions of research...
  56. ncbi A genetic approach to cancer epigenetics
    A P Feinberg
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Cold Spring Harb Symp Quant Biol 70:335-41. 2005
    ..They suggest a model of cancer prevention that involves the epigenetic analysis of normal cells for risk stratification and cancer prevention strategies...
  57. ncbi Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology
    Diana Lucifero
    McGill University Montreal Children s Hospital Research Institute and Department of Paediatrics, McGill University, Montreal, Quebec, H3H 1P3, Canada
    Hum Reprod Update 10:3-18. 2004
    ....
  58. pmc Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
    Genevieve Baujat
    INSERM U393 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 74:715-20. 2004
    ..These results suggest that the two disorders may have more similarities than previously thought and that NSD1 could be involved in imprinting of the chromosome 11p15 region...
  59. ncbi Genomic imprinting and dermatological disease
    G W M Millington
    Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, UK
    Clin Exp Dermatol 31:681-8. 2006
    ..Imprinted genes could also play a part in the polygenetic inheritance of more common diseases also, as atopic eczema and psoriasis may have predominantly maternal and paternal modes of transmission, respectively...
  60. ncbi Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11
    Linda Beatty
    Department of Medical Genetics and Microbiology, University of Toronto, Toronto, ON, Canada
    Genomics 87:46-56. 2006
    ..Finally, we find that there is a switch in methylation patterns outside the CpG island from maternal methylation within the island to predominantly paternal methylation at sites flanking the CpG island...
  61. ncbi [Beckwith-Wiedemann syndrome]
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine
    Nihon Rinsho . 2006
  62. ncbi DNA methylation in genomic imprinting, development, and disease
    M Paulsen
    University of Cambridge, Department of Anatomy, Cambridge CB2 3DY, UK
    J Pathol 195:97-110. 2001
    ..The molecular basis of methylation-mediated gene regulation is related to changes in chromatin structure and appears to be similar for both imprinted and biallelically expressed genes...
  63. ncbi Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
    Susanne E Boonen
    Genetic Counselling Clinic, Kennedy Center, Glostrup, Denmark
    Eur J Hum Genet 16:453-61. 2008
    ..The recurrence with affected sibs as reported in this family has implications for genetic counselling...
  64. ncbi Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting
    R Fukuzawa
    Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
    Pediatr Dev Pathol 4:381-90. 2001
    ..Thus, somatic mosaicism may result in unbalanced tissue growth, which may contribute to the formation of MHL in BWS...
  65. ncbi Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
    V Gaston
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Hopital Trousseau, AP HP, Paris, France
    Eur J Hum Genet 9:409-18. 2001
    ..We also evaluated clinical and molecular features as prognostic factors for tumour and showed that mosaicism for 11p15 UPD and hypermethylation of the H19 gene in blood cells were associated with an increased risk of tumour...
  66. ncbi A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms
    A Baumer
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Hum Mutat 17:423-30. 2001
    ....
  67. ncbi MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
    Manuela Priolo
    Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, Reggio Calabria, Italy
    Eur J Hum Genet 16:565-71. 2008
    ..5 critical region within one single experiment and represents an easy, low cost and reliable system for the molecular diagnostics of BWS and SRS...
  68. ncbi Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Trends Genet 24:195-204. 2008
    ..e. chromosomes 7 and 11). Thus, a functional interaction between factors encoded by chromosomes 7 and 11 is likely...
  69. ncbi Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    Andrew M Fisher
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 111:290-6. 2002
    Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature...
  70. ncbi Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:2126-9. 2008
    ..Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS...
  71. pmc ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome
    Takahiro Arima
    Department of Reproductive Physiology and Endocrinology, Medical Institute of Bioregulation, Kyusyu University 4546, Tsurumihara, Beppu, Oita 874 0838, Japan
    Nucleic Acids Res 33:2650-60. 2005
    ..Mutations in ZAC may, therefore, contribute to Beckwith-Wiedemann syndrome. Furthermore, we find changes in DNA methylation at the LIT1 putative imprinting control region in two patients with TNDB...
  72. ncbi Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
    Adam C Smith
    Institute of Medical Science, University of Toronto, Toronto, Canada
    Am J Med Genet A 143:3010-5. 2007
    ..These two patients support the hypothesis that high levels of UPD define high expressivity in BWS...
  73. pmc Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, Saint Louis, USA
    Am J Hum Genet 70:604-11. 2002
    ..003), cancer (P=.03), and hypoglycemia (P=.05). These results define an epigenotype-phenotype relationship in BWS, in which aberrant methylation of H19 and LIT1 and UPD are strongly associated with cancer risk and specific birth defects...
  74. ncbi Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    Angela Sparago
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 16:254-64. 2007
    ..Finally, the IC1 microdeletions are associated with a high incidence of Wilms' tumour, making their molecular diagnosis particularly important for genetic counselling and tumour surveillance at follow-up...
  75. ncbi Impressions of imprints
    R Ohlsson
    Department of Animal Development and Genetics, Uppsala University, Sweden
    Trends Genet 10:415-7. 1994
  76. ncbi Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome
    Wendy N Cooper
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
    Genomics 89:613-7. 2007
    ..In contrast to meiotic recombination, the mitotic recombination frequency did not decline near the centromere...
  77. ncbi Epigenetics in reproductive medicine
    Ariane Paoloni-Giacobino
    Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland
    Pediatr Res 61:51R-57R. 2007
    ..A better understanding of epigenetic reprogramming in the germ line is absolutely necessary both to assess the safety of these methods and of the use of impaired spermatogenesis gametes for assisted reproduction...
  78. ncbi Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study
    Marianne E Doornbos
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    Hum Reprod 22:2476-80. 2007
    ..Evaluation of relationships between assisted reproduction technologies (ART), fertility problems and disorders caused by disturbed genetic imprinting such as Angelman syndrome (AS) and Beckwith-Wiedemann syndrome (BWS)...
  79. ncbi Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
    Rosanna Weksberg
    Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 11:1317-25. 2002
    ..These data underscore the importance of continued surveillance of children born following assisted reproductive technologies that impact the preimplantation embryo...
  80. ncbi A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57KIP2 gene, is biallelically expressed in fetal and adult tissues
    R J Hu
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 5:1743-8. 1996
    ..hNAP2 diverges in its expression pattern from IGF2, H19, and p57KIP2, and it shows biallelic expression in all tissues tested. Thus, hNAP2 is functionally insulated from the imprinting domain of 11p15...
  81. ncbi [Epigenetic perspectives of safety in assisted reproductive technologies]
    I N Lebedev
    Genetika 43:1157-71. 2007
    ..Moreover, overcoming many natural reproductive barriers may contribute to the development of some pathological phenotypes. The review summarizes current views on epigenetic risk factors associated with assisted reproductive technologies...
  82. ncbi Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis
    D P Samuel
    Pediatric Branch, National Cancer Institute, National Institute of Health, Bethesda, MD 20895, USA
    Med Pediatr Oncol 32:38-43. 1999
    ..Loss of heterozygosity (LOH) of chromosome 11p15.5 is strongly associated with childhood embryonal tumors, particularly Wilms tumor, hepatoblastoma, and rhabdomyosarcoma...
  83. ncbi Omphalocele and gastroschisis and associated malformations
    Claude Stoll
    Génétique Médicale, Faculte de Medecine, Strasbourg, France
    Am J Med Genet A 146:1280-5. 2008
    ..Malformation surveillance programs should be aware that the malformations associated with omphalocele can be often classified into a recognizable malformation syndrome or pattern (44.2%)...
  84. pmc Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome
    Zhi Xing Yao
    Department of Gastroenterology, MD Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 285:36112-20. 2010
    ....
  85. ncbi [Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.]
    Aa Palladino
    , Division d endocrinologie, Philadelphie, Etats Unis
    Ann Biol Clin (Paris) 67:245-54. 2009
    ..The management of hyperinsulinism requires a multidisciplinary approach that includes pediatric endocrinologists, radiologists, surgeons, and pathologists who are trained in diagnosing, identifying, and treating hyperinsulinism...
  86. ncbi Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis
    S Maniar
    Service d endocrinologie, diabétologie et nutrition, CHU Ibn Sina, Rabat, Morocco
    Ann Endocrinol (Paris) 72:48-52. 2011
    ..The hemihypertrophy associated with hemihypertrichosis has been exceptionally reported and the cause of this association has not been identified to date...
  87. pmc Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
    Valeria Romanelli
    INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain
    Eur J Hum Genet 19:416-21. 2011
    ....
  88. ncbi Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes
    Kazuki Yamazawa
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
    J Hum Genet 56:91-3. 2011
    ....
  89. ncbi Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes
    Carme Morales
    Servei de Bioquímica i Genètica Molecular, Mejía Lequerica s n, Barcelona, Spain
    Fertil Steril 92:393.e5-9. 2009
    ..To describe the molecular and cytogenetic characterization of two different prenatal cases of androgenetic/biparental mosaicism and review the different possible mechanisms of origin in each case...
  90. ncbi Congenital hyperinsulinism
    Jean Baptiste Arnoux
    Hospital Necker Enfants Malades, Paris, France
    Early Hum Dev 86:287-94. 2010
    ..The main points sum up the management of HI: i) prevention of brain damages by normalizing glycemia and ii) screening for focal HI as they may be definitively cured after a limited pancreatectomy...
  91. ncbi Prenatal testing for uniparental disomy: indications and clinical relevance
    D Kotzot
    Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria
    Ultrasound Obstet Gynecol 31:100-5. 2008
    ..For all other chromosomes, prenatal UPD testing is purely academic and should therefore not be performed on a routine basis, particularly because a positive result might confuse the parents more than it actually helps them...
  92. pmc Differential expression of insulin-like growth factors I and II (IGF I and II), mRNA, peptide and binding protein 1 during mouse palate development: comparison with TGF beta peptide distribution
    M W Ferguson
    Department of Cell and Structural Biology, University of Manchester, UK
    J Anat 181:219-38. 1992
    ..1991) and may be the target for uniparental disomy in the human Beckwith Wiedemann syndrome (Henry et al...
  93. pmc Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
    V Verkarre
    INSERM UR 383, Hopital Necker Enfants Malades, University Paris V, 75743 Paris Cedex 15, France
    J Clin Invest 102:1286-91. 1998
    ....
  94. ncbi Mutations in adrenocortical tumors
    M Reincke
    Medical Department II, University of Freiburg, Germany
    Horm Metab Res 30:447-55. 1998
    ..This indicates that the signaling pathways responsible for adrenocortical tumor formation are different from that of other endocrine neoplasms like pituitary and thyroid adenomas...
  95. ncbi Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies
    M V Gomes
    Department of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Avenida Bandeirantes, 3900, Monte Alegre, Ribeirão Preto 14049 900, Sao Paulo, Brazil
    Mol Hum Reprod 15:471-7. 2009
    ....
  96. ncbi High incidence of malformation syndromes in a series of 1,073 children with cancer
    Johannes Hans M Merks
    Department of Pediatric Oncology, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 134:132-43. 2005
    ..We propose that all children with a malignancy should be examined by a clinical geneticist or a pediatrician skilled in clinical morphology to determine if the patients have a malformation syndrome...
  97. ncbi Systemic and maxillofacial characteristics of patients with Beckwith-Wiedemann syndrome not treated with glossectomy
    Akiko Kawafuji
    Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial Neck Reconstruction, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo ku, Tokyo, Japan
    Am J Orthod Dentofacial Orthop 139:517-25. 2011
    ..To highlight the intrinsic characteristics of BWS, 7 Japanese affected individuals without glossectomy were analyzed in this study...
  98. ncbi Medullary sponge kidney associated with multivessel fibromuscular dysplasia: report of a case with renovascular hypertension
    Michele Bisceglia
    Department of Pathology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Int J Surg Pathol 16:85-90. 2008
    ..This article describes an adult female who underwent nephrectomy for renovascular hypertension due to multivessel fibromuscular dysplasia with small left kidney found to be associated with MSK...
  99. pmc Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    S Das
    Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 67:1586-91. 2000
    ..This finding has clinical implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be considered in patients with transient neonatal diabetes mellitus...
  100. ncbi Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
    Joerg Mattes
    Department of Paediatrics, John Hunter Hospital, Newcastle, Australia
    Am J Med Genet A 143:2165-71. 2007
    ..This case illustrates that as with the finding of an isochromosome, a supernumerary marker chromosome can be an important clue to the presence of UPD14...

Research Grants33

  1. Molecular and Cellular Regulation of Mammalian Renal Medulla Development
    Jing Yu; Fiscal Year: 2013
    ....
  2. Effects of Bisphenol A Exposure on Genomic Imprinting in the Mouse
    Martha Susiarjo; Fiscal Year: 2012
    ..In addition to providing general mechanistic insights into BPA actions, the proposed work will specifically elucidate the potential etiology of imprinting diseases with underlying environmental causes. ..
  3. Stability of epigenetic structures in ART children
    Carmen Sapienza; Fiscal Year: 2010
    ..The incidence of abnormal epigenetic marks will be compared between the two populations to determine whether any aspect of the ART procedure results in destabilization of epigenetic structures in the genomes of early human embryos. ..
  4. Epigenetic Regulation of Imprinting in Mouse Embryo
    Marisa S Bartolomei; Fiscal Year: 2012
    ..abstract_text> ..
  5. SEQUENCES CONTROLLING H19 GENE IMPRINTING
    Marisa S Bartolomei; Fiscal Year: 2013
    ..Together these experiments will allow a greater understanding of imprinted gene regulation at this important locus as well as serving for a model of epigenetic gene regulation in mammals. . ..
  6. Polycomb complexes targeted to specific loci by non-coding RNA co-factors
    Jeannie T Lee; Fiscal Year: 2013
    ....
  7. Establishment of a phenotypical model of adverse outcomes associated with ART
    KEVIN DALE WELLS; Fiscal Year: 2011
    ..The proposed model will enable the long-term goal of elucidating the mechanisms by which assisted reproductive technologies can induce loss-of-imprinting syndromes, and most importantly, induce the resulting phenotypes. ..
  8. Mutually Exclusive Odorant Receptor Regulation
    Robert P Lane; Fiscal Year: 2013
    ..Epigenetic regulation is central to a number of important health concerns, including tumorogenesis, imprinting disorders, gene therapeutic strategies, and stem cell research. ..
  9. SEQUENCES CONTROLLING H19 GENE IMPRINTING
    Marisa S Bartolomei; Fiscal Year: 2010
    ....
  10. EPIGENETIC REGULATION IN A CANCER ASSOCIATED REGION
    Michael J Higgins; Fiscal Year: 2012
    ..abstract_text> ..
  11. TUMOR SUPPRESSORS AND IMPRINTING AT CHROMOSOME 11P155
    Michael Higgins; Fiscal Year: 2000
    ..This information may identify valuable prognostic markers and will facilitate more rational approaches to cancer therapies. ..
  12. Role of regulatory sequence at the H19 imprinting control region
    Folami Ideraabdullah; Fiscal Year: 2009
    ..The research proposed here will open new doors to our understanding of the genetic and epigenetic mechanisms underlying genomic imprinting and thereby have significant impact on the study and treatment of the associated human diseases. ..
  13. EPIGENETIC CONTROL OF GENE EXPRESSION
    Rui Ming Xu; Fiscal Year: 2003
    ..Results from these experiments will lead to comprehensive models about how distinct chromatin domains are established and propagated. ..
  14. A New Transgenic Approach for the Kidney
    Pumin Zhang; Fiscal Year: 2004
    ..Furthermore, the technology will benefit the kidney research community as a whole. ..
  15. BWS AND EMBRYONAL TUMOR SUPPRESSOR GENES ON 11P15
    ANDREW FEINBERG; Fiscal Year: 2009
    ..abstract_text> ..
  16. In-utero Exposure and Infant Loss of IGF2 Imprinting
    Cathrine Hoyo; Fiscal Year: 2007
    ..The proposed study also has the potential to provide a foundation for future studies investigating the etiology of chronic diseases, including diabetes, cardiovascular diseases and some cancers. [unreadable] [unreadable] [unreadable]..
  17. LSC ANALYSIS OF CELL CYCLE REGULATED CHROMOSOME DYNAMICS
    Janine LaSalle; Fiscal Year: 2000
    ....
  18. CLONING IMPRINTED GENES FROM THE MOUSE
    Beverly Emanuel; Fiscal Year: 2003
    ....
  19. Role of MBD proteins in imprinted gene expression
    Kimberly Reese; Fiscal Year: 2006
    ..I will also identify which Mbds are bound to repressive methylated chromatin at imprinted loci in embryonic cell lines. ..
  20. DEFECTIVE DNA MISMATCH REPAIR IN ENDOMETRIAL CANCERS
    Paul Goodfellow; Fiscal Year: 2009
    ..These studies will define the relationship between defective DNA mismatch repair and the disease state. ..
  21. Analysis of Imprinting Control of H19/Igf2 and Kcnq1
    Nora Engel; Fiscal Year: 2009
    ..Thus, these studies will provide a more thorough understanding of the regulatory mechanisms deployed in gene silencing and will give insight into how these mechanisms can go awry in cancerous cells. ..
  22. FUNCTIONAL ALLELOTYPING
    ANDREW FEINBERG; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  23. NOVEL DNA METHYLTRANSFERASES IN DEVELOPMENT AND DISEASE
    Timothy Bestor; Fiscal Year: 2002
    ..abstract_text> ..
  24. FUNCTION OF SEX SPECIFIC EXONS IN DNMT1 GENE
    Timothy Bestor; Fiscal Year: 2002
    ....
  25. CONTROL OF DIFFERENTIATION IN COLON CARCINOMA
    Luzhe Sun; Fiscal Year: 2001
    ....
  26. TELOMERASE AS A PROGNOSTIC INDICATOR FOR WILMS TUMOR
    Jeffrey Dome; Fiscal Year: 2002
    ..Telomerase levels will be quantified by assaying enzyme activity, expression of TERT, and expression of hTR, the RNA template component of the enzyme. ..
  27. Methylation Landscape of the Human Genome
    Timothy Bestor; Fiscal Year: 2003
    ..The impending completion of the sequence of the human genome presents a unique opportunity to gain understanding of the shape of genomic methylation patterns and their role in human development and disease. ..
  28. Molecular Stratification of Brain Tumors
    John Cowell; Fiscal Year: 2005
    ..Ultimately we will be able to develop a custom array which will allow an unbiased analysis of brain tumors in an attempt to predict clinical phenotypes such as response to therapy and prognosis. ..
  29. High throughput profiling of genomic methylation patterns
    Timothy Bestor; Fiscal Year: 2008
    ..We introduce new technologies that will profile the methylation pattern of the entire genome as a means to identify methylation pattern abnormalities that are associated with human breast cancer. [unreadable] [unreadable] [unreadable]..
  30. Increasing Blood and Cord Blood Donation in Blacks
    Michael DeBaun; Fiscal Year: 2006
    ....
  31. Enigmatic Mammalian DNA Methyltransferase Homologue
    Timothy Bestor; Fiscal Year: 2006
    ..We will perform biochemical and genetic experiments that will determine the biological functions of Dnmt2 in normal cells, and will determine whether the Dnmt2 gene is altered in neoplastic diseases of humans. ..
  32. Silencing of transposons in mammalian germ cells
    Timothy Bestor; Fiscal Year: 2008
    ..The studies described here are almost certain to identify factors that regulate de novo methylation in the male germ line. [unreadable] [unreadable] [unreadable]..