Sökning: "Neurofibromatosis type 1"

Visar resultat 6 - 10 av 10 avhandlingar innehållade orden Neurofibromatosis type 1.

  1. 6. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

    Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

    Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER

  3. 7. From a candidate region to gene characterization : analysis of three new genes with respect to meningioma tumorigenesis

    Författare :Myriam Peyrard; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :meningioma; central nervous system; monosomy 22; tumor suppressor gene; ADTBI BAM22 gene; clathrin-coated vesicles; adaptin; assembly protein;

    Sammanfattning : Meningioma is a common and usually benign tumor arising from the meninges covering the central nervous system (CNS). The yearly incidence of symptomatic meningiomas is 1.2 cases per 100 000 individuals but autopsy findings reveal an occurrence ten times higher. LÄS MER

  4. 8. Studies of congenital genetic aberrations behind childhood leukemia

    Författare :Benedicte Bang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Acute lymphoblastic leukemia (ALL) is the most common cancer in childhood, and most frequently (85%) of B-cell precursor type (BCP-ALL). Acquired chromosomal rearrangements or aneuploidies are the recurrent, often prenatal, initiators of BCP-ALL. LÄS MER

  5. 9. Congenital heart disease, genetic syndromes, and childhood cancer

    Författare :Christina-Evmorfia Kampitsi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Childhood cancer is a diverse group of rare diseases and remains a significant global concern, despite substantial improvements in survival outcomes. Yet, little is known about its etiology. LÄS MER

  7. 10. Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH

    Författare :Isabel Tapia Paez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Chromosome 22; t 11; 22 q23; q 11 ; inverted repeats palindromes; DiGeorge Velo-cardio-facial syndrome; array-CGH;

    Sammanfattning : Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. LÄS MER