Sökning: "SMARCB1"
Hittade 3 avhandlingar innehållade ordet SMARCB1.
1. Characterization of candidate disease genes from human chromosomes 11g13 and 22q
Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER
2. Genetic analysis of neurofibromatosis type 2 (NF2) patients and NF2-associated tumors with emphasis on chromosome 22 deletions
Sammanfattning : Neurofibromatosis type 2 (NF2) is an autosomal dominant disease with the hallmark of bilateral vestibular schwannomas. NF2 patients may also develop schwannomas at other locations as well as meningiomas, neurofibromas and ependymomas. NF2 shows a distinct clinical variability ranging from very mild to severe forms. LÄS MER
3. Downstream effects of master regulators in two brain diseases
Sammanfattning : In paper one, we investigated how the pharmacological activation and inhibition of the glucocorticoid system affects lifespan and symptoms in a mouse model for RTT. We performed a long-term drug treatment study with the GR activator corticosterone and the GR inhibitor RU486 under which we measured the lifespan and onset of RTT-like symptoms of male Mecp2-null and female Mecp2 heterozygous mice in comparison to untreated mutant and to treated and untreated wild-type animals. LÄS MER