Global ETD Search

1	Functional analysis and carrier detection of mismatch repair gene mutations Ou, Jianghua, January 2008 (has links) Proefschr. Rijksuniversiteit Groningen. / Met lit. opg. - Met samenvatting in het Nederlands. Mutaties. Genen.
2	Identification and functional analysis of genes regulated by ß1 and ß3 integrins Bout, Jan Iman van den van den, January 2008 (has links) Proefschrift Universiteit van Amsterdam. / Lit. opg. - Met samenvatting in het Nederlands. Integrinen Genen.
3	Colon cancer susceptibility genes in mice and humans Ruivenkamp, Claudia Antoinette Laetitia, January 2003 (has links) Proefschrift Universiteit van Amsterdam. / Met bibliogr., lit. opg. - Met samenvatting in het Nederlands. Kanker. Dikke darm. Genen.
4	Gene mapping of complex disorders Gilles de la Tourette syndrome and heriditary paragangliomas / Heutink, Peter, January 1993 (has links) Thesis Erasmus University Rotterdam. / ook verschenen in gedrukte versie. With bibliogr., with a summary in Dutch.
5	Crumbs and MAGUK proteins, from interaction to function Kantardzhieva, Albena Valcheva. January 1900 (has links) Proefschrift Universiteit van Amsterdam. / Met samenvatting in het Nederlands. Retinitis pigmentosa. Genen. Eiwitten.
6	The ecogenetics of schizophrenia Marcelis, Machteld Christa. January 1900 (has links) Proefschrift Universiteit Maastricht. / Met bibliogr., lit. opg. - Met samenvatting in het Nederlands.
7	Identification and characterization of the tw73 candidate gene Orct3 Verhaagh, Sandra Francisca Maria Johanna, January 2001 (has links) Proefschrift Universiteit van Amsterdam. / Met bibliogr., lit. opg. - Met samenvatting in het Nederlands.
8	Parasexual fusion in Fusarium oxysporum biological and molecular characterization of avirulence recombinants / Teunissen, Hedwich Agnes Sophia. January 2002 (has links) Proefschrift Universiteit van Amsterdam. / Met lit. opg. - Met samenvatting in het Nederlands.
9	The expression of integrated viral genes in adenovirus transformed cells Maarschalkerweerd, Marianne Wilhelmina van, January 1900 (has links) Thesis (doctoral)--Rijksuniversiteit te Utrecht.
10	Generation of mutated expression plasmid KRT1 and comparison of HaCaT cells transfected with expression plasmid KRT1 or KRT10 concerning keratin aggregates Eriksson, Jennifer January 2012 (has links) Introduction The genetic skin disease epidermolytic ichtyosis is caused by mutations in either keratin gene 1 or 10 and leads to blisters and hyperkeratosis of the epidermis. At cellular level the disease is seen as aggregates in the keratin filaments. Since medicines are hard to investigate and produce mainly due to lack of reproducible model systems, there is no good treatment available for this disease today. In this article we describe how an in vitro model consisting of cells from a stable cell line transfected with expression plasmids to mimic patient cells, may be a possible alternative for screening compounds for therapies. The first step was to generate an expression plasmid required to complete the in vitro model. The model was tested by a preliminary experiment with 4-phenylbuturate (4-PBA) to see if the substance had an effect on the amount of cells with keratin aggregates. Methods PCR and primers containing the desired mutation were used to incorporate a deletion in wild type keratin gene1 plasmid to generate the expression plasmid. HaCaT cells were transfected with the plasmid for expression of keratin. The percentage of cells with keratin aggregates was assessed by fluorescence microscopy. Results/Conclusion Cells containing mutated plasmid had a higher percentage of keratin aggregates compared to cells transfected with wild type plasmid. 4-PBA was found not to affect the amount of cells with keratin aggregates. According to this project the model might be a useful tool for screening compounds, but it needs to be more developed and tested. Epidermolytic ichtyosis keratinocytes keratinfilaments keratin genen mutation 4-PBA Cell and Molecular Biology Cell- och molekylärbiologi

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