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Visar resultat 1 - 5 av 7 avhandlingar som matchar ovanstående sökkriterier.

1. 1. RAS-MAPK syndromes - a Clinical and Molecular Investigation

   Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

   Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER

3. 2. Ras-MAPK signaling in differentiating SH-SY5Y human neuroblastoma cells

   Författare :Anna-Karin Olsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Neuroblastoma; SH-SY5Y; differentiation; neurite; Ras; MAPK; PKC; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

   Sammanfattning : Neuroblastoma is a malignant childhood cancer, originating from sympathetic neuroblasts of the peripheral nervous system. Neuroblastoma is a heterogenous group of tumours, while some are highly malignant others can spontaneosly mature into a more benign form or regress. LÄS MER

4. 3. Genetic and Clinical Investigation of Noonan Spectrum Disorders

   Författare :Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. LÄS MER

5. 4. Modulation of PDGF Receptor Signaling via the Phosphatase SHP-2 and the Docking Protein Gab1

   Författare :Anders Kallin; Lars Rönnstrand; Carl-Henrik Heldin; Per Lindahl; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cell and molecular biology; PDGF; SHP-2; Gab1; chemotaxis; actin reorganization; Cell- och molekylärbiologi; Cell and molecular biology; Cell- och molekylärbiologi;

   Sammanfattning : x.... LÄS MER

7. 5. Molecular Genetic Studies on Prostate and Penile Cancer

   Författare :Patiyan Andersson; Peter Söderkvist; Mattias Höglund; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prostate cancer; IRS1; penile cancer; hTERT; FHIT; PIK3CA; HRAS; KRAS; NRAS; BRAF; Oncology; Onkologi;

   Sammanfattning : This thesis is comprised of two parts. In the first part we study the influence of four frequently disputed genes on the susceptibility for developing prostate cancer, and in the second part we attempt to establish a basic understanding of the molecular genetic events in penile cancer. LÄS MER