Sökning: "cytogenetics"

Visar resultat 16 - 20 av 80 avhandlingar innehållade ordet cytogenetics.

  1. 16. Laminins and Congenital Muscular Dystrophy - From a Mouse Model to Gene Therapy of Laminin alpha2 chain deficiency?

    Författare :Kinga Gawlik; Muskelbiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; laminin; muscular dystrophy; gene therapy; Histology; cytochemistry; histochemistry; tissue culture; Histologi; cytokemi; histokemi; vävnadskultur; Genetics; cytogenetics; cytogenetik; Skeleton; muscle system; rheumatology locomotion; Skelett; muskelsystem; reumatologi; Genetik;

    Sammanfattning : Gene therapy holds great promise for treating many genetic diseases, including muscular dystrophies. Mutations in the gene encoding laminin alpha2 chain ? an extracellular protein prominently expressed in the neuromuscular system ? cause a severe neuromuscular disorder: congenital muscular dystrophy type 1A (MDC1A). LÄS MER

  3. 17. Chromosomal Instability and Genomic Amplification in Bone and Soft Tissue Tumours

    Författare :David Gisselsson Nord; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; nuclear atypia; kinetochore; anaphase bridge; p53; breakage-fusion-bridge cycle; TP53; HMGIC; MDM2; mitotic instability; genomic instability; FISH; osteosarcoma; liposarcoma; amplification; tumour; chromosome; cytogenetics; Clinical genetics; Klinisk genetik;

    Sammanfattning : Acquired genetic abnormalities are found in all types of malignant tumours and may contribute to neoplastic processes by altering protein structure or dosage. Many bone and soft tissue tumours (BSTT) are characterised by complex patterns of chromosome changes, including extensive intratumour heterogeneity and amplification of DNA sequences. LÄS MER

  4. 18. Characterization and Use of a Multiplex PCR-based System: Random amplified Polymorphic DNA

    Författare :Christer Halldén; Malmö Klinisk kemi; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; DNA mixtures; competition; graphical genotypes; bulked segregant analysis; linkage map; genetic distance; RFLP markers; RAPD markers; oilseed rape; sugar beet; Genetics; cytogenetics; Genetik; cytogenetik;

    Sammanfattning : Random amplified polymorhic DNA (RAPD) is a PCR-based marker system that makes use of universal sets of short oligonucleotides that amplify random DNA fragments under low-stringency conditions. The RAPD marker system has found widespread use and possesses a number of very positive features, being a multiplex and universal system. LÄS MER

  5. 19. Morphological Features and Mismatch Repair in Colorectal Tumors

    Författare :Britta Halvarsson; Tumörmikromiljö; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Patologi allmän ; patologisk anatomi; Lynch syndrome; Colorectal tumors; HNPCC; Mismatch repaire; pathological anatomy; General pathology; Genetik; cytogenetik; cytogenetics; Genetics; Medicin människa och djur ; Medicine human and vertebrates ; Immunohistochemistry;

    Sammanfattning : Corlorectal cancer affects 5% of individuals in the Western world and heredity is estimated to cause at least 10% of the tumors. Defective mismatch repair (MMR) is a tumorigenic mechanism through which about 15% of colorectal cancer develops and this feature characterizes tumors associated with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome. LÄS MER

  7. 20. Transcriptional regulation and effects on differentiation by LMO proteins and the basic helix-loop-helix factors TAL1 and HEN1

    Författare :Anders Hansson; Institutionen för translationell medicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; HEN1; differentiation; LMO; LIM proteins; TAL1; T-ALL; bHLH;

    Sammanfattning : Acute lymphoblastic leukemia (ALL) is the most widespread type of cancer, as well as the most frequent leukemia in children. Malignant ALL cells originate from normal T lymphocytes or B cells that are blocked at immature stages of differentiation. LÄS MER