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In the decade since their discovery, the two major breast cancer susceptibility genes BRCA1 and BRCA2, have been shown conclusively to be involved in a significant fraction of families segregating breast and ovarian cancer. However, it has become equally clear that a large proportion of families segregating breast cancer alone are not caused by mutations in BRCA1 or BRCA2. Unfortunately, despite i

Hereditary severe combined immunodeficiency (SCID) includes a heterogeneous group of diseases that profoundly affect both cellular and humoral immune responses and require treatment by bone marrow transplantation. Characterization of the cellular and molecular bases of SCID is essential to provide accurate genetic counseling and prenatal diagnosis, and it may offer the grounds for alternative form

When a spin bias is applied to a two-terminal device, a charge current will be generated. We demonstrate the rectification of such a current by studying spin-dependent transport through a quantum point contact (QPC) modulated by a spin-orbit interaction. When the polarization orientation of the spin bias (which is the spin-quantization axis) is along the transverse direction of the QPC, the two sp

The interventions of portable digital devices such as mobile telephones, mp3 players, PDAs and many others, have contributed to the formation of contemporary notions of space. The impact of these devices' mobility (informing the users' mobility) could even be paralleled to the shift from the effects of still photography to those of film in the 19th century. Especially important for the perspective

Modernitet och intermedialitet is the first major study of the Swedish modernist writer Erik Asklund (1908-1980) and his works. The thesis consists of an introductory chapter and three close readings of Asklund’s early novels Kvinnan är stor (The Woman is Great, 1931), Lilla land (A Small Country, 1933), and Fanfar med fem trumpeter (A Fanfare with Five Trumpets, 1934). In these novels, Asklund de

BACKGROUND: Information on cancer prevalence is of major importance for health planning and resource allocation. However, systematic information on cancer prevalence is largely unavailable. MATERIALS AND METHODS: Thirty-eight population-based cancer registries from 17 European countries, participating in EUROPREVAL, provided data on almost 3 million cancer patients diagnosed from 1970 to 1992. Sta

Popular Abstract in Swedish Akut mellanöreinflammation (akut otitis media, AOM) är en av barnaålderns vanligaste sjukdomare och en av dem som oftast föranleder antibiotikabehandling. De flesta barn får bara någon enstaka AOM, men cirka 5% av dem som insjuknar drabbas sedan av upprepade infektioner (s.k. otit-benägna barn) och blir till ett problem både för patienten, dennes familj och samhället. D

Reactive oxygen species (ROS) produced by the phagocyte NADPH oxidase complex are important in the killing of invading pathogens. Lately, a role of ROS has been suggested in regulation of the immune system. This was further highlighted when the Ncf1 gene, encoding a subunit of the NADPH oxidase complex, was found to regulate arthritis severity in rats. Interestingly, the fact that increased arthri

Calcifying aponeurotic fibroma (CAF) is a soft tissue neoplasm with a predilection for the hands and feet in children and adolescents. Its molecular basis is unknown. We used chromosome banding analysis, fluorescence in situ hybridization (FISH), mRNA sequencing (RNA-seq), RT-PCR and immunohistochemistry to characterize a series of CAFs. An insertion ins(2;4)(q35;q25q?) was identified in the index

Diagnosis by screening mammography is considered an independent positive prognostic factor, although the data are not fully in agreement. The aim of the study was to explore whether the mode of detection (screening-detected versus symptomatic) adds prognostic information to the St Gallen molecular subtypes of primary breast cancer, in terms of 10-year cumulative breast cancer mortality (BCM).

Laminins are heterotrimeric glycoproteins of the basement membranes. Laminin 1 (alpha 1, beta 1, gamma 1) is the major laminin expressed during early mouse embryogenesis. To gain access, to the physiological function of laminin alpha 1 chain, we developed a conditionally null allele of its encoding gene (Lama1) using the cre/loxP system. Floxed-allele-carrying mice (Lama1(flox/flox)) display no ov

The aetiology of benign prostatic hyperplasia (BPH) remains unclear. The objective of the present study was to test the insulin, oestradiol and metabolic syndrome hypotheses as promoters of BPH. The design was a risk factor analysis of BPH in which the total prostate gland volume was related to endocrine and anthropometric factors. The participants studied were 184 representative men, aged 72-76 y

For proteomic monitoring of processes such as allergy or inflammation an efficient pre-fractionation strategy is required. We isolated plasma membranes from human peripheral blood mononuclear (PBM) cells by aqueous two-phase partitioning. After 1DE combined with LC-MS/MS, several cell surface marker proteins and in total 60 different plasma membrane proteins (out of 84 identified proteins, i.e., 7

Background: The St Gallen surrogate molecular subtype definitions classify the oestrogen (ER) positive breast cancer into the luminal A and luminal B subtypes according to proliferation rate and/or expression of human epidermal growth factor receptor 2 (HER2) with differences in prognosis and chemo-responsiveness. Primary tumours and lymph node metastases might represent different malignant clones

Human aquaporin 2 (AQP2) is a water channel found in the kidney collecting duct, where it plays a key role in concentrating urine. Water reabsorption is regulated by AQP2 trafficking between intracellular storage vesicles and the apical membrane. This process is tightly controlled by the pituitary hormone arginine vasopressin and defective trafficking results in nephrogenic diabetes insipidus (NDI