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We have monitored L-type Ca2+ channel activity, local cytoplasmic Ca2+ transients, the distribution of insulin-containing secretory granules and exocytosis in individual mouse pancreatic B-cells. Subsequent to the opening of the Ca2+ channels, exocytosis is initiated with a latency < 100 ms. The entry of Ca2+ that precedes exocytosis is unevenly distributed over the cell and is concentrated to the
Popular Abstract in Swedish Blodgruppsantigen finns på den röda blodkroppens cellyta och även på många andra celltyper. I denna avhandling har jag studerat gener och dess varianter (polymorfismer) som är ansvariga för uttrycket av tre blodgruppsantigener av kolhydratnatur, nämligen Pk, P och P1. Dessa utgör P- och GLOB-blodgruppssystemen och GLOB-kollektionen. Fem olika fenotyper förekommer då anThe clinically important carbohydrate P/GLOB blood group systems and collection give rise to both common (P1, P2) and rare (p, P1k, P2k) blood group phenotypes. The associated antibodies are implicated in severe transfusion reactions and recurrent spontaneous abortions. The aim of this study was to explore the molecular genetic basis of Pk, P and P1 antigen expression. Sequence analysis of the A4
Repair and reconstruction of major nerve trunks in the upper extremity is a very challenging surgical problem. Today, there is no surgical repair technique that can assure recovery of tactile discrimination in the hand of an adult patient following nerve repair. In contrast, young individuals usually attain a complete recovery of functional sensibility. The outcome from nerve repair depends mainly
Multiple sclerosis (MS) is a chronic inflammatory disease of central nervous system (CNS) which is thought to arise from a breakdown of immunological tolerance in CD4 cells. The aim of this thesis is to improve our understanding of regulation mechanisms of T cell-dependent chronic inflammation in the CNS and explore ways to overcome the onset and progression of the disease, which can be an importa
Resistance to the HER-2 targeting drug trastuzumab can be observed clinically, but the lack of suitable experimental models hampers studies of resistance mechanisms. We characterized a HER-2–positive carcinoma cell line (JIMT-1) derived from a 62-year-old breast cancer patient which was clinically resistant to trastuzumab. Multicolor fluorescence in situ hybridization revealed a complex hyperdiplo
Osteoarthritis (OA) and pigmented villonodular synovitis (PVNS) are disorders associated with trisomy 7. The aim of the present study was to determine the frequency and distribution of the cells with +7 in vivo by analyzing sections of paraffin-embedded synovia from patients affected by OA, PVNS, other forms of synovitis [hemorragic synovitis (HS) and chronic synovitis (CS)], and from individuals
Autoimmune diseases such as rheumatoid arthritis (RA) are chronic diseases that cannot be prevented or cured. If the pathologic basis of such diseases would be known, it might be easier to develop new drugs interfering with critical pathways. Genetic analysis of animal models for autoimmune diseases can result in discovery of proteins and pathways that play a key function in pathogenesis, which ma
We report a case of a large, deep-seated, diagnostically difficult angiomatoid fibrous histiocytoma. The neoplastic cells were positive for vimentin, calponin, CD99, and, focally, for desmin and contained intertwining cytoplasmic processes joined by desmosomelike junctions. Fusion of codon 175 of the FUS gene to codon 110 of the ATF1 gene was detected by reverse transcription-polymerase chain reac
Popular Abstract in Swedish Det är välkänt att övervikt och fetma är starkt associerade med sjukliga förändringar i hjärtkärlsystemet och ökar risken att drabbas av hjärtkärlsjukdom och förtida död. Trots att viktnedgång hos överviktiga kan leda till en tillbakagång av sjukliga förändringar i hjärta och kärl, har man dock inte klart visat att viktnedgång leder till minskad risk att drabbas av hjärHigh body mass index (BMI) is associated with cardiovascular risk factors such as hypertension, dyslipidemia, and insulin resistance. Obesity is also an independent risk factor for coronary artery disease (CAD) and can cause structural as well as functional changes in the heart. High BMI is associated with increased mortality in the population. Weight-loss from a state of overweight or obesity may
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
Breast carcinoma is thought to arise because of multiple successive changes in the genome of the normal epithelial cells. However, little is known of the order of appearance of different types of genetic aberrations We studied the ERBB2 (Her-2/neu) and CCND1 (cyclin D1) oncogene amplification in flow cytometrically sorted diploid and nondiploid tumor cell populations by fluorescence in situ hybrid
Aim: To investigate the association between the use of cellular or cordless telephones and the risk for salivary gland tumours. Methods: Cases were assessed from the six regional cancer registries in Sweden. Four controls matched for sex and age in five year age groups were selected for each case. A total of 293 living cases and 1172 controls were included. Results: There were 267 (91%) participat
Background and aims: The gastric hormone ghrelin has been reported to stimulate food intake, increase weight gain, and cause obesity but its precise physiological role remains unclear. We investigated the long term effects of gastrectomy evoked ghrelin deficiency and of daily ghrelin injections on daily food intake, body weight, fat mass, lean body mass, and bone mass in mice. Methods: Ghrelin wa
The fate of ornithine in the nephron of the female OF-1 Swiss mouse remains unknown. The aim of the present study was to identify the nephron segments containing the key enzymes involved in ornithine metabolism: ornithine decarboxylase (ODC) and ornithine aminotransferase (OAT). Viable tubules isolated by microdissection were incubated with [1-14C]ornithine to study the oxidative pathway. Other tu
Background: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly
This thesis will describe the clinical phenotypes, with emphasis on electrophysiology, in patients with different hereditary eye diseases and to further evaluate and modify the mfVEP technique for clinical use. Bothnia Dystrophy is a tapetoretinal disorder with a mutation in the RLBP1 gene. Early in the disease the fundus may have a normal appearance. The full-field ERG demonstrates an absence of
Popular Abstract in Swedish Vad betyder egentligen demokratisering för medborgaren i termer av möjligheter för deltagande i och inflytande över socio-politiska processer? Denna fråga står i centrum för föreliggande avhandling. Den våg av demokratiseringsprocesser som svept över utvecklingsvärlden under de senaste decennierna har medfört ökad frihet för miljontals människor och givit upphov till enThe global expansion of democratic rule in the developing world has attracted much scholarly interest. The societal implications of the democratisation process, i.e. what democratisation actually means for the citizens in terms of opportunities for participation and influence, have not received as much attention though. This study makes a contribution to redressing the imbalance. Drawing on normat
