Sökning: "molecular-genetic methods"

Visar resultat 1 - 5 av 20 avhandlingar innehållade orden molecular-genetic methods.

1. 1. Molecular genetic studies on cystinuria

   Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

   Sammanfattning : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. LÄS MER

3. 2. Cell adhesion proteins in different invasive patterns of colon carcinomas : a morphometric and molecular genetic study

   Författare :Victoria Hahn-Strömberg; Lennart Franzén; Richard Palmqvist; Örebro universitet; []
   Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; colon carcinoma; growth pattern; tight junction; Complexity Index; cell adhesion; E-cadherin; Beta-catenin; Occludin; Claudin.; Medicine; Medicin; Biomedicin; Biomedicine;

   Sammanfattning : Colorectal carcinoma is the second most common type of cancer in both men and women in Sweden. Cancer of the colon and rectum are often considered together and their ten year survival rate is approximately 50 – 60 % depending on sex and location. LÄS MER

4. 3. Molecular genetic aspects of renal cell carcinoma development

   Författare :Andrei Alimov; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Kidney tumor; RCC; LOH; CGH; SKY; PTEN; chromosome 3p; chromosome 10q; chromosome 14q;

   Sammanfattning : Renal cell carcinoma (RCC) is the most common tumor of the renal parenchyma. The aim of this study was to further characterize known as well as new genetic abnormalities in a clinical material of RCC, as well as in established cell lines to gain more information about etiological and progression factors. LÄS MER

5. 4. Localization of five human genes by clinical and molecular genetic methods

   Författare :Mihailo Vujic; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

   Sammanfattning : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. LÄS MER

7. 5. Molecular Genetic Studies of the Blood Group ABO Locus in Man

   Författare :Martin L Olsson; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chi sequence; recombination; population studies; blood group serology; erythrocyte; blood transfusion; sequencing; DNA; PCR; genomic; Blood group ABO; allele; Immunology; serology; transplantation; Immunologi; serologi; Clinical genetics; Klinisk genetik;

   Sammanfattning : The ABO blood group system is undoubtedly the most important genetic and phenotypic marker in clinical transfusion medicine. The A and B determinants are immunodominant, terminally located carbohydrate residues of glycoconjugates on erythrocytes and other cell surfaces. LÄS MER