unstable dna sequence

Summary

Summary: A region of DNA that is highly polymorphic and is prone to strand breaks, rearrangements or other MUTATIONS because of the nature of its sequence. These regions often harbor palindromic, or repetitive sequences (REPETITIVE SEQUENCES, NUCLEIC ACID). Variability in stability of the DNA sequence is seen at CHROMOSOME FRAGILE SITES.

Top Publications

  1. pmc An Entry/Gateway cloning system for general expression of genes with molecular tags in Drosophila melanogaster
    Omar S Akbari
    Biology Department, University of Nevada, Reno, 1664 N Virginia Street, M S 314, Reno, NV 89557, USA
    BMC Cell Biol 10:8. 2009
  2. ncbi The myotonic dystrophies: diagnosis and management
    Chris Turner
    Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 81:358-67. 2010
  3. pmc Genome hyperevolution and the success of a parasite
    J David Barry
    Wellcome Trust Centre for Molecular Parasitology, Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary, and Life Sciences, University of Glasgow, Glasgow, United Kingdom
    Ann N Y Acad Sci 1267:11-7. 2012
  4. ncbi Microsatellite instability (MSI) increases with age in normal somatic cells
    Mary I Coolbaugh-Murphy
    Department of Molecular Genetics, The University of Texas M D Anderson Cancer Center, 1515 Holcombe, Houston, TX 77030, USA
    Mech Ageing Dev 126:1051-9. 2005
  5. ncbi Multiple independent pseudogene derivations indicate increased instability of the Mdm2 locus in Mus caroli
    Kristen K Ford
    Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT 06269, USA
    Mol Biol Rep 32:95-101. 2005
  6. ncbi Analysis of chromosome/allele loss in genetically unstable yeast by quantitative real-time PCR
    Yi Chen Lo
    University of New Mexico School of Medicine, Albuquerque, NM 87131, USA
    Biotechniques 38:685-6, 688, 690. 2005
  7. ncbi The DNA-instability test as a specific marker of malignancy and its application to detect cancer clones in borderline malignancy
    M Fukuda
    Department of Oncological Pathology, Faculty of Medicine, Matsuoka, Yoshida gun, 9l0 ll93, Fukui, Japan
    Eur J Histochem 49:11-26. 2005
  8. ncbi The loss of a single telomere can result in instability of multiple chromosomes in a human tumor cell line
    Laure Sabatier
    Laboratoire de Radiologie et Oncologie, Commissariat a l Energie Atomique, Fontenay aux Roses, France
    Mol Cancer Res 3:139-50. 2005
  9. ncbi Common fragile sites and cancer: targeted cloning by insertional mutagenesis
    Isabel Büttel
    Division of Tumor Genetics, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Ann N Y Acad Sci 1028:14-27. 2004
  10. pmc Evolution and functional classification of vertebrate gene deserts
    Ivan Ovcharenko
    Energy, Environment, Biology, and Institutional Computing, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genome Res 15:137-45. 2005

Research Grants

  1. Mistargeting of Elastase in Bone Marrow Failure
    Marshall Horwitz; Fiscal Year: 2008

Scientific Experts

Detail Information

Publications61

  1. pmc An Entry/Gateway cloning system for general expression of genes with molecular tags in Drosophila melanogaster
    Omar S Akbari
    Biology Department, University of Nevada, Reno, 1664 N Virginia Street, M S 314, Reno, NV 89557, USA
    BMC Cell Biol 10:8. 2009
    ..The vectors were used to generate fluorescent CP190 which is a component of the gypsy chromatin insulator. We used the fluorescent CP190 to study the dynamic movement of related chromatin insulators in living cells...
  2. ncbi The myotonic dystrophies: diagnosis and management
    Chris Turner
    Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 81:358-67. 2010
    ....
  3. pmc Genome hyperevolution and the success of a parasite
    J David Barry
    Wellcome Trust Centre for Molecular Parasitology, Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary, and Life Sciences, University of Glasgow, Glasgow, United Kingdom
    Ann N Y Acad Sci 1267:11-7. 2012
    ..Coordination of antigenic variation, and thereby transmission, occurs through networking of trypanosome traits expressed at different scales from molecules to host populations...
  4. ncbi Microsatellite instability (MSI) increases with age in normal somatic cells
    Mary I Coolbaugh-Murphy
    Department of Molecular Genetics, The University of Texas M D Anderson Cancer Center, 1515 Holcombe, Houston, TX 77030, USA
    Mech Ageing Dev 126:1051-9. 2005
    ..01). A baseline for increases of MSI with age in human somatic cells was therefore begun and the effectiveness of SP-PCR to evaluate low, but significant, levels of MSI, established...
  5. ncbi Multiple independent pseudogene derivations indicate increased instability of the Mdm2 locus in Mus caroli
    Kristen K Ford
    Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT 06269, USA
    Mol Biol Rep 32:95-101. 2005
    ..The identification of an Mdm2 retropseudogene within this species further highlights the predisposition to instability for this region of the genome...
  6. ncbi Analysis of chromosome/allele loss in genetically unstable yeast by quantitative real-time PCR
    Yi Chen Lo
    University of New Mexico School of Medicine, Albuquerque, NM 87131, USA
    Biotechniques 38:685-6, 688, 690. 2005
  7. ncbi The DNA-instability test as a specific marker of malignancy and its application to detect cancer clones in borderline malignancy
    M Fukuda
    Department of Oncological Pathology, Faculty of Medicine, Matsuoka, Yoshida gun, 9l0 ll93, Fukui, Japan
    Eur J Histochem 49:11-26. 2005
    ....
  8. ncbi The loss of a single telomere can result in instability of multiple chromosomes in a human tumor cell line
    Laure Sabatier
    Laboratoire de Radiologie et Oncologie, Commissariat a l Energie Atomique, Fontenay aux Roses, France
    Mol Cancer Res 3:139-50. 2005
    ..Factors promoting telomere loss are therefore likely to have an important role in generating the karyotype evolution associated with human cancer...
  9. ncbi Common fragile sites and cancer: targeted cloning by insertional mutagenesis
    Isabel Büttel
    Division of Tumor Genetics, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Ann N Y Acad Sci 1028:14-27. 2004
    ..The idea of genetically tagging fragile site DNA by insertional mutagenesis through an exogenous marker gene has provided a platform for the efficient targeted cloning of a substantial number of common fragile sites...
  10. pmc Evolution and functional classification of vertebrate gene deserts
    Ivan Ovcharenko
    Energy, Environment, Biology, and Institutional Computing, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genome Res 15:137-45. 2005
    ..Stable gene deserts resist chromosomal rearrangements and appear to harbor multiple distant regulatory elements physically linked to their neighboring genes, with the linearity of conservation invariant throughout vertebrate evolution...
  11. ncbi Mitochondrial DNA instability in malignant melanoma of the skin is mostly restricted to nodular and metastatic stages
    Micaela Poetsch
    Institute of Forensic Medicine, University of Greifswald, Germany
    Melanoma Res 14:501-8. 2004
    ..Our data indicate that mtDNA alterations in malignant melanoma are not induced by UV radiation. In addition, point mutations and mtMSI were mostly a feature of nodular and metastatic melanoma samples...
  12. pmc Diagnostic application of hMLH1 methylation in hereditary non-polyposis colorectal cancer
    Nagahide Matsubara
    Department of Gastroenterological Surgery and Surgical Oncology, Okayama University Graduate School of Medicine and Dentistry, Okayama 700 8558, Japan
    Dis Markers 20:277-82. 2004
    ..Here we propose a possible application of methylation test combined with MSI or pathological analysis as an effective and a cost-saving new strategy for screening of Lynch syndrome...
  13. pmc Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis
    Olivier Buhard
    INSERM U434, CEPH, Paris, France
    Dis Markers 20:251-7. 2004
    ..We have already proposed a pentaplex MSI screening test comprising 5 quasimonomorphic mononucleotide repeats. This article compares the advantages of mono or dinucleotide repeats in determining microsatellite instability...
  14. pmc Development of a fluorescent multiplex assay for detection of MSI-High tumors
    Jeffery W Bacher
    Promega Corporation, Madison, WI 53711 5399, USA
    Dis Markers 20:237-50. 2004
    ....
  15. pmc MSI-testing in hereditary non-polyposis colorectal carcinoma (HNPCC)
    Annegret Müller
    Department of General Surgery, University of Gottingen, Gottingen, Germany
    Dis Markers 20:225-36. 2004
    ..Integration of family history and histo-pathological features is also critical...
  16. pmc Role of the pathologist in the diagnosis of hereditary non-polyposis colorectal cancer
    Jeremy R Jass
    McGill University, Montreal, Quebec, Canada
    Dis Markers 20:215-24. 2004
    ..Immunohistochemistry to demonstrate loss of expression of DNA mismatch repair genes serves as a highly reliable test of mismatch repair deficiency if antibodies to hMLH1, hMSH2, hMSH6 and hPMS2 are employed...
  17. pmc MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with microsatellite instability
    Chiara Pastrello
    Department of Preclinical Research and Epidemiology, Centro Riferimento Oncologico, IRCCS, Aviano PN, Italy
    Dis Markers 21:121-6. 2005
    ....
  18. ncbi Microsatellite instability and transitional cell carcinoma of the upper urinary tract
    Morgan Roupret
    Department of Urology, Tenon Teaching Hospital, Paris, France
    BJU Int 96:489-92. 2005
  19. pmc Cycles of chromosome instability are associated with a fragile site and are increased by defects in DNA replication and checkpoint controls in yeast
    Anthony Admire
    Department of Molecular and Cellular Biology, University of Arizona, Tucson, Arizona 85721, USA
    Genes Dev 20:159-73. 2006
    ..Cycles of instability of this normal yeast chromosome may be relevant to chromosome instability of mammalian fragile sites and of chromosomes in cancer cells...
  20. ncbi [Anticipation in patients with iridescent multicoloured posterior capsular lens opacities ("Christmas tree cataract") : The Role in the diagnosis of myotonic dystrophy]
    C Reiter
    Universitäts Augenklinik Würzburg, Josef Schneider Strasse 11, 97080, Wurzburg, Deutschland
    Ophthalmologe 106:1116-20. 2009
    ..A further feature is anticipation, which is the occurrence of increasing disease severity and decreasing age of onset in successive generations, depending on inherited unstable DNA sequences that become larger with each generation...
  21. ncbi Regulation of rDNA stability by sumoylation
    Nadine Eckert-Boulet
    Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, DK 2200 Copenhagen N, Denmark
    DNA Repair (Amst) 8:507-16. 2009
    ..The relocalization before repair is important for maintaining rDNA stability. The focus of this review is the regulation of recombinational DNA repair at the rDNA locus by sumoylation and the Smc5-Smc6 complex in S. cerevisiae...
  22. ncbi Reduced likelihood of metastases in patients with microsatellite-unstable colorectal cancer
    Alberto Malesci
    Department of Gastroenterology, IRCCS Istituto Clinico Humanitas, Rozzano, Milan, Italy
    Clin Cancer Res 13:3831-9. 2007
    ..Although associated with earlier-stage tumors, MSI has been proposed as an independent predictor of survival. We tested the prognostic value of MSI in a large series of patients diagnosed with colorectal cancer in the last decade...
  23. ncbi [Detection of microsatellite instability in colorectal cancer by fluorescence multiplex polymerase chain reaction and its clinical value]
    Hei ying Jin
    National Center of Colorectal Surgery, The Third Affiliated Hospital, Nanjing University of Chinese Medicine, Nanjing 210001, China
    Zhonghua Wei Chang Wai Ke Za Zhi 10:217-20. 2007
    ..To detect microsatellite instability(MSI) in colorectal cancer by fluorescence multiplex polymerase chain reaction(FM-PCR) and explore its clinical value...
  24. ncbi Cloning of genetically tagged chromosome break sequences reveals new fragile sites at 6p21 and 13q22
    Anne Fechter
    Division of Tumour Genetics, German Cancer Research Center, DKFZ, Im Neuenheimer Feld 280, Heidelberg, Germany
    Int J Cancer 120:2359-67. 2007
    ..It is conceivable that these fragile sites result in genetic damage that might contribute to cancer phenotypes such as osteosarcoma, breast and prostate cancer...
  25. ncbi Abnormalities of the nucleus and nuclear inclusions in neurodegenerative disease: a work in progress
    J M Woulfe
    Department of Pathology, The Ottawa Hospital, University of Ottawa, and Cancer Research Program, The Ottawa Health Research Institute, Ottawa, Canada
    Neuropathol Appl Neurobiol 33:2-42. 2007
    ....
  26. ncbi Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions
    Anne Fechter
    Division of Tumour Genetics, German Cancer Research Center, 69120 Heidelberg, Germany
    Genes Chromosomes Cancer 46:98-106. 2007
    ..The region of FRA11G is known to be involved in somatic and germline recurrent aberrations, and it is conceivable that genetic damage resulting from this fragile site might contribute to clinical phenotypes...
  27. pmc SnoN expression is differently regulated in microsatellite unstable compared with microsatellite stable colorectal cancers
    June A Chia
    The Conjoint Gastroenterology Laboratory, Royal Brisbane and Women s Hospital Foundation Clinical Research Centre and the Queensland Institute of Medical Research, Brisbane, 4029, Australia
    BMC Cancer 6:252. 2006
    ..SnoN is an important regulator of the transforming growth factor beta (TGFbeta) signalling pathway and has been shown to exhibit both tumour promotion and suppression activity...
  28. ncbi Variability and inequity in testing of somatic tissue for hereditary cancer: a survey of UK clinical practice
    C L Gaff
    Cardiff University Department of Medical Genetics, Institute of Medical Genetics, Cardiff, UK
    Clin Genet 70:312-9. 2006
    ..The implications of these variations are considered, and recommendations for the development of a consistent service for testing of somatic tissue offered...
  29. ncbi Discordant genetic changes in ovarian and endometrial endometrioid carcinomas: a potential pitfall in molecular diagnosis
    K H Chang
    Department of Pathology, The University of Texas M D Anderson Cancer Center, Houston, TX 77030 4095, USA
    Int J Gynecol Cancer 16:178-82. 2006
    ..Because of these discordant genetic changes, great caution should be taken when distinguishing between primary and metastatic tumors on the basis of microsatellite markers...
  30. pmc Identification of HNPCC by molecular analysis of colorectal and endometrial tumors
    H F A Vasen
    Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
    Dis Markers 20:207-13. 2004
    ..Our studies showed that MSI and IHC analysis of colorectal and endometrial cancer, are reliable cost-effective tools that can be used to identify patients with HNPCC...
  31. pmc Colorectal carcinogenesis: MSI-H versus MSI-L
    Timothy M Pawlik
    Department of Surgical Oncology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    Dis Markers 20:199-206. 2004
    ..Future studies will need to evaluate the specific mutations in non-MSI-H tumors in an attempt to sub-classify MSI-L tumors with regard to MSS tumors so that subtle differences between these two sub-groups can be identified...
  32. pmc Lynch syndrome: history and current status
    Henry T Lynch
    Department of Preventive Medicine, Creighton University School of Medicine, 2500 California Plaza, Omaha NE 68178, USA
    Dis Markers 20:181-98. 2004
  33. ncbi Instability of microsatellites is an infrequent event in uveal melanoma
    Neil A Cross
    Institute for Cancer Studies, Division of Genomic Medicine, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK
    Melanoma Res 13:435-40. 2003
    ..These data suggest that high frequency MSI does not occur in these tumours, and that low frequency MSI, in contrast to cutaneous melanoma, is a rare event in malignant melanomas of the uveal tract...
  34. ncbi Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC)
    Il Jin Kim
    Korean Hereditary Tumor Registry, Cancer Research Institute and Cancer Research Center, Seoul National University, Seoul, Korea
    J Hum Genet 48:525-30. 2003
    ..0001), as previously reported. The MSI-H tumors were also associated with tumor node metastasis (TNM) I/II stages ( p=0.05) and high-grade tumors ( p<0.01). Here, we propose a DHPLC-based method as an alternative for MSI analysis...
  35. ncbi Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas
    Wendy W J de Leng
    Department of Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Clin Cancer Res 9:3065-72. 2003
    ..DNA was studied for loss of heterozygosity (LOH) at 19p (STK11), 5q (APC), and 17p (TP53); mutations in beta-catenin, APC, and K-RAS; and microsatellite instability...
  36. ncbi Microsatellite changes in nipple aspirate fluid and breast tissue from women with breast carcinoma or its precursors
    Weizhu Zhu
    Department of Surgery, Ellis Fischel Cancer Center University of Missouri, Columbia, Missouri 65212, USA
    Clin Cancer Res 9:3029-33. 2003
    ..Eleven microsatellite markers from seven chromosomes that have a high frequency of LOH/MSI in breast cancer were designed and respectively amplified...
  37. ncbi Development and applications of a beta-catenin oligonucleotide microarray: beta-catenin mutations are dominantly found in the proximal colon cancers with microsatellite instability
    Il Jin Kim
    Research Institute and Hospital, National Cancer Center, Goyang, Gyeonggi 411 764, Korea
    Clin Cancer Res 9:2920-5. 2003
    ..001); moreover, MSI was found to be more frequent in proximal colon tumors (P < 0.01). In addition, beta-catenin mutations were also found to be associated with proximal colon cancer (P = 0.017)...
  38. ncbi CpG island methylator phenotype is an independent predictor of survival benefit from 5-fluorouracil in stage III colorectal cancer
    Marius van Rijnsoever
    Departments of Surgery, University of Western Australia, Nedlands 6907, Australia
    Clin Cancer Res 9:2898-903. 2003
    ..The two cohorts were randomly pair-matched for age, sex, and tumor site, and the median length of follow-up time was 39 months...
  39. ncbi Drug treatment in the development of mismatch repair defective acute leukemia and myelodysplastic syndrome
    Ida Casorelli
    Istituto Superiore di Sanita, Laboratorio di Tossicologia Comparata, Rome, Italy
    DNA Repair (Amst) 2:547-59. 2003
    ..In view of the established relationship between drug resistance and mismatch repair defects, we suggest that selection for therapeutic drug resistance may contribute to the incidence of MSI(+) tAL/MDS...
  40. ncbi Assessment of genetic instability in melanocytic skin lesions through microsatellite analysis of benign naevi, dysplastic naevi, and primary melanomas and their metastases
    Giuseppe Palmieri
    Istituto di Chimica Biomolecolare, CNR, Alghero, 07040 Santa Maria La Palma SS, Italy
    Melanoma Res 13:167-70. 2003
    ..However, our findings are consistent with the hypothesis that MSI may be sequentially induced during malignant evolution, contributing to the progression of a subset of melanocytic tumours...
  41. ncbi Incidence of microsatellite instability in synchronous tumors of the ovary and endometrium
    Catherine Shannon
    Westmead Hospital, Sydney 2145, Australia
    Clin Cancer Res 9:1387-92. 2003
    ..We hypothesized that there might be a higher rate of MSI in tumors from women with synchronous primary carcinomas of the ovary and endometrium...
  42. ncbi Anticipation in bipolar affective disorder: is age at onset a valid criterion?
    M Alda
    Department of Psychiatry, Dalhousie University, Nova Scotia, Canada
    Am J Med Genet 96:804-7. 2000
    ..This suggests that age at onset alone may not be a sufficient criterion of anticipation. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:804-807, 2000...
  43. ncbi Molecular structure of the transposable element ninja in Drosophila simulans
    K Ogura
    Department of Applied Biology, Kyoto Institute of Technology, Japan
    Genes Genet Syst 71:1-8. 1996
    ..An alignment analysis of the reverse transcriptase sequences suggested that the ninja element is the first Drosophila retrotransposon belonging to the Pao subgroup...
  44. pmc Anticipation in familial leukemia
    M Horwitz
    Division of Medical Genetics, School of Medicine, University of Washington, Seattle 98195, USA
    Am J Hum Genet 59:990-8. 1996
    ..Sampling bias is unlikely to explain these findings. This suggests that dynamic mutation of unstable DNA sequence repeats could be a common mechanism of inherited hematopoietic malignancy with implications for the role ..
  45. ncbi Detailed comparative map of human chromosome 19q and related regions of the mouse genome
    L Stubbs
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077, USA
    Genomics 35:499-508. 1996
    ..These data permit an unusually in-depth examination of this large region of mouse-human genomic homology and provide an important new tool to aid in the mapping of genes and associated phenotypes in both species...
  46. ncbi Microsatellite instability at chromosome 8p in non-small cell lung cancer is associated with lymph node metastasis and squamous differentiation
    Matthias Woenckhaus
    Department of Pathology, University of Regensburg, Regensburg, Germany
    Int J Oncol 23:1357-63. 2003
    ..The tetranucleotide marker panel used in this study was able to indicate lymph node metastasis and high risk disease in patients with resectable squamous cell lung cancer...
  47. pmc Matrix attachment region (MAR) properties and abnormal expansion of AT island minisatellites in FRA16B fragile sites in leukemic CEM cells
    Jennifer A Jackson
    Department of Radiation Oncology, University of Texas Health Science Center, 14960 Omicron Drive, San Antonio, TX 78245, USA
    Nucleic Acids Res 31:6354-64. 2003
    ..The ability of FRA16B-mediated MAR sites to rearrange depending on the repeat expansion status could be relevant to both genomic instability of cancer cells and their sensitivity to AT-island targeting drugs...
  48. pmc Lynch syndrome (HNPCC) and microsatellite instability
    Asad Umar
    Gastrointestinal and Other Cancers Research Group, Division of Cancer Prevention, National Cancer Institute, EPN, Suite 2141, 6130 Executive Boulevard, Bethesda, MD 20892 7317, USA
    Dis Markers 20:179-80. 2004
  49. ncbi Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2
    Ruhee Dere
    Institute of Biosciences and Technology, Center for Genome Research, Texas A and M University System Health Science Center, Texas Medical Center, Houston, Texas 77030 3303, USA
    J Biol Chem 279:41715-26. 2004
    ..However, similar to the triplet repeat sequences, the ability of one of the two strands to form a more stable folded structure, in our case the CAGG strand, explains this unorthodox "reversed" behavior...
  50. ncbi Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer
    Trinidad Caldes
    Molecular Oncology Laboratory, Hospital Clinico San Carlos, Martin Lagos s n, 28040 Madrid, Spain
    Oncol Rep 12:621-9. 2004
    ..This practical method should have immediate application in the clinical work of patients with inherited colorectal cancer syndromes...
  51. ncbi An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome
    M O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 3:1227-35. 2004
    ..ATR-Seckel syndrome patients have dramatic microcephaly and marked growth and developmental delay. The clinical features of these patients are considered in the light of the function of the defective protein...
  52. ncbi Establishment of a new scirrhous gastric carcinoma cell line with microsatellite instability
    Tsuyoshi Koyama
    Department of Surgical Oncology, Osaka City University Graduate School of Medicine, Osaka, Japan
    Oncol Rep 12:317-21. 2004
    ..OCUM-7 might be beneficial for analyzing the mechanisms of MSI in scirrhous gastric carcinoma...
  53. pmc Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma
    M Roupret
    J Med Genet 41:e91. 2004
  54. ncbi Tetranucleotide microsatellite instability in surgical margins for prediction of local recurrence of head and neck squamous cell carcinoma
    Stephane Temam
    Department of Head and Neck Surgery, Villejuif, France
    Clin Cancer Res 10:4022-8. 2004
    ..We sought to determine whether tetranucleotide microsatellite instability could be detected in surgical margins and used to predict local recurrence...
  55. ncbi Relationship between mitochondrial DNA instability, mitochondrial DNA large deletions, and nuclear microsatellite instability in head and neck squamous cell carcinomas
    Micaela Poetsch
    Institute of Forensic Medicine, University of Greifswald, Germany
    Diagn Mol Pathol 13:26-32. 2004
    ..527 and 0.078, respectively). Nevertheless, the high rate of mtMSI suggests an involvement of mtDNA alterations in the tumorigenesis of this head and neck cancer and supports the proposal that this aberration may be a new tumor marker...
  56. ncbi Role of the structure of the top half of HIV-1 cTAR DNA on the nucleic acid destabilizing activity of the nucleocapsid protein NCp7
    Hervé Beltz
    UMR 7034 CNRS, Faculte de Pharmacie, Universite Louis Pasteur, Strasbourg 1, 74 route du Rhin, 67401 Illkirch Cedex, France
    J Mol Biol 338:711-23. 2004
    ....
  57. ncbi Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability
    Giuseppe Giannini
    Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I, Viale Regina Elena, 324, 00161 Rome, Italy
    Oncogene 23:2640-7. 2004
    ....
  58. ncbi A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
    D R Langbehn
    Department of Psychiatry, University of Iowa College of Medicine, Iowa City, IA, USA
    Clin Genet 65:267-77. 2004
    ..This model also defines the variability in HD onset that is not attributable to CAG length and provides information concerning CAG-related penetrance rates...
  59. pmc BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications
    D P Locke
    Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
    J Med Genet 41:175-82. 2004
    ..They have important implications for effective microarray design, as well as for the detection of segmental aneusomy within the human population...
  60. pmc Tumbling down a different pathway to genetic instability
    Haiwei H Guo
    Jospeh Gottstein Research Laboratory, Department of Pathology, University of Washington, Seattle 98195 7705, USA
    J Clin Invest 112:1793-5. 2003
    ..These findings may represent a novel mechanism contributing to MSI in chronic inflammation...
  61. ncbi Characterisation of a new rare fragile site easily confused with the fragile X
    G R Sutherland
    Department of Cytogenetics and Molecular Genetics, Adelaide Children s Hospital, Australia
    Hum Mol Genet 1:111-3. 1992
    ..it does not give abnormal results when subjected to Southern analysis with probe pfxa3 which detects the unstable DNA sequence characteristic of fragile X syndrome...

Research Grants1

  1. Mistargeting of Elastase in Bone Marrow Failure
    Marshall Horwitz; Fiscal Year: 2008
    ..1 Determine if ELA2 promoter variation contributes to neutropenia; 3.2 Measure the frequency of the ELA2 C-199A allele in individuals of African descent with benign ethnic neutropenia; 3.3 Identify new neutropenia genes. ..