Sökning: "coding repeats"

Visar resultat 21 - 25 av 29 avhandlingar innehållade orden coding repeats.

  1. 21. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection

    Författare :Fang-Yuan Li; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). LÄS MER

  3. 22. Studies of histone modification systems in Schizosaccharomyces pombe

    Författare :Carolina Bonilla; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The genetic information in every cell is carried in the DNA. In eukaryotes the DNA is wrapped twice around proteins called histones forming a repeating unit called the nucleosome, in fibers known as chromatin. Nucleosomes are folded into higher order structures forming the chromosomes. LÄS MER

  4. 23. Tracking functional changes in the cancer genome : a molecular genetic analysis of renal and prostatic carcinomas using PCR based techniques by a candidate chromosome and candidate gene approach

    Författare :Chunde Li; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Renal cell carcinoma; Prostatic Carcinoma; Molecular Genetics;

    Sammanfattning : Renal cell carcinoma (RCC) is the most common malignancy occurring in the adult kidney. Prostatic carcinoma is the most common male malignancy in most Western countries. Several environmental factors have been suggested to contributed to the tumor genesis but the involvement of genetic factors is also recognized. LÄS MER

  5. 24. Exploring early development and regenerative medicine using CRISPR/Cas9

    Författare :Nerges Winblad; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : With their intrinsic capacity to self-renew and their potential to differentiate to specialized tissues, human embryonic stem cells (hESCs) have many applications in the fields of cell therapy and developmental biology. By applying clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) genome engineering on selected genes in hESCs, we are able to create cells with desired characteristics. LÄS MER

  7. 25. Expression and functional analysis of the SCA7 disease protein ataxin-7

    Författare :Anna-Lena Ström; Monica Holmberg; Patrik Brundin; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Polyglutamine disease; CAG repeat; Spinocerebellar ataxia type 7; Molekylärbiologi; Molecular biology; Molekylärbiologi; molekylärbiologi; Molecular Biology;

    Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease characterized by cerebellar ataxia and visual problems due to a progressive and selective loss of neurons within the cerebellum, brainstem and retina. The disease is caused by the expansion of a CAG repeat in the first coding exon of the SCA7 gene, resulting in an expanded polyglutamine domain in the N-terminal part of ataxin-7, a protein of unknown function. LÄS MER