Search for dissertations about: "CAG repeat"

Showing result 1 - 5 of 32 swedish dissertations containing the words CAG repeat.

  2. 1. THE ANDROGEN RECEPTOR GGN POLYMORPHISM. Genetic and functional analyses

    Author : Kristina Lundin; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine human and vertebrates ; Functional domain; Genetic predisposition; Reproductive function; Sex hormone; Transactivation function; Repeat; Polymorphism; Androgen receptor; Transcription factor; Medicin människa och djur ; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Abstract : Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. READ MORE

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

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

    Abstract : 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. READ MORE

  5. 3. Functional characterisation of the CAG polymorphism in the androgen receptor- in vitro and in vivo

    Author : Hannah Nenonen; Diabetes - öpatofysiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; androgen receptor; polymorphism; CAG polymorphism; androgen receptor activity; infertility; prostate cancer; androgen receptor function;

    Abstract : The androgen receptor (AR) is the mediator of androgen actions. In the AR coding region there is a polymorphic CAG repeat encoding a stretch of the amino acid glutamine (Q). The repeat length modulates receptor activity and is normally distributed between 10-30 CAG with a median length of 22 repeats in white men. READ MORE

  6. 4. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

    Author : Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

    Abstract : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. READ MORE

  7. 5. Genetic, environmental and life-style effects on androgen receptor function

    Author : Christel Björk; Malmö Molekylärgenetisk reproduktionsmedicin; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; reproductive function; smoking; 4 .4-DDE; persistent organic pollutants; prostate cancer; Androgen receptor; prostate specific antigen; CAG polymorphism; TCDD; aryl hydrocarbon receptor; CB-153;

    Abstract : Androgens regulate male reproductive function and their effects are mediated through the androgen receptor (AR). The AR gene contains a polymorphic CAG repeat, encoding a stretch of glutamines, affecting the transcriptional activity of the AR. READ MORE