Sökning: "chromosome 21"

Visar resultat 1 - 5 av 65 avhandlingar innehållade orden chromosome 21.

1. 1. Molecular mechanisms in cervical carcinogenesis : Studies of clonality, somatic genetic alterations and human papillomavirus variants in cervical pre-invasive and invasive cancer

   Författare :Zhongmin Guo; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; CIN; clonality; X-chromosome inactivation; LOH; HPV; chromosome 3p; chromosome 6; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

   Sammanfattning : Cervical cancer derives from a series of pre-invasive cervical neoplastic lesions termed CIN I-III (Cervical Intraepithelial Neoplasia) via typical multiple-step processes. In contrast to premalignant disorders in other organs, different degrees of CIN possess a distinct biological behaviour where a proportion spontaneously regress or persist, whereas some progress to invasive cancer. LÄS MER

3. 2. Characterization of chromosome abnormalities

   Författare :Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. LÄS MER

4. 3. Transcriptome and Proteome Analysis using Signature Tags

   Författare :Charlotta Agaton; KTH; []
   Nyckelord :functional genomics; 3´-end signature tags; pyrosequencing; amplification; PrEST; chromosome 21; polyclonal antibodies; dual expression; affinity purification;

   Sammanfattning : With the full sequence of the human genome now available, anexciting era in biomedical research has started. The sequenceprovides information about all our genes and greatly increasesthe scope to compare genetic activities in different cells, toanalyze genetic variation between individuals and betweendifferent species and, most importantly, to investigatesystematically the whole genome in a gene-by-gene manner, andthus increase our understanding of gene function. LÄS MER

5. 4. Molecular alterations in squamous cell carcinomas of the skin : emphasis on genes on chromosome 9q

   Författare :Lena Eklund; Johan Hansson; Linköpings universitet; []
   Nyckelord :MEDICINE; MEDICIN;

   Sammanfattning : Skin cancer is the most common type of cancer in the western world. The incidence of melanoma and non-melanoma skin cancer is continuously increasing and, in Sweden, 2300 new cases per year are diagnosed of squamous cell carcinoma (SCC) alone. LÄS MER

7. 5. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

   Författare :Bodil Edman Ahlbom; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. LÄS MER