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SOXC transcription factors in mantle cell lymphoma : the role of promoter methylation in SOX11 expression

The related transcription factors SOX11, SOX4 and SOX12 (classified as the SOXC family) compete for the same target genes. SOX11 is expressed in most mantle cell lymphomas (MCL) but a small subset is, like normal lymphocytes, SOX11 negative. Here we report the variable expression of SOX4 and high expression of SOX12 in MCL compared to non-malignant tissue. Our results show that the expression of t

Influence of rimonabant treatment on peripheral blood mononuclear cells; flow cytometry analysis and gene expression profiling

The cannabinoid receptor type 1 (CB1) antagonist rimonabant has been used as treatment for obesity. In addition, anti-proliferative effects on mitogen-activated leukocytes have been demonstrated in vitro. We have previously shown that rimonabant (SR141716A) induces cell death in ex vivo isolated malignant lymphomas with high expression of CB1 receptors. Since CB1 targeting may be part of a future

Up-regulation of APP endocytosis by neuronal aging drives amyloid dependent-synapse loss

Neuronal aging increases the risk of late-onset Alzheimer's disease. During normal aging, synapses decline, and β-amyloid (Aβ) accumulates intraneuronally. However, little is known about the underlying cell biological mechanisms. We studied normal neuronal aging using normal aged brain and aged mouse primary neurons that accumulate lysosomal lipofuscin and show synapse loss. We identify the up-reg

3-phosphoglycerate dehydrogenase deficiency : A case report of a treatable cause of seizures

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a

Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency

Objective: Exclusively breastfed infants with unrecognised cholestatic jaundice are at high risk of a vitamin K deficiency (VKD) bleeding. It is presently unknown whether (the size of) this risk depends on the degree of cholestasis. Since alpha-1-antitrypsin deficiency (A1AD) induces a variable degree of cholestasis, we assessed the risk of VKD bleeding in infants with cholestatic jaundice due to

Cranial ultrasound in metabolic disorders presenting in the neonatal period : Characteristic features and comparison with MR imaging

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. A secondary aim, when possible, was to address t

The association of single nucleotide polymorphisms (SNPs) with breast density and breast cancer survival : the Malmö Diet and Cancer Study

Background: Genetic factors are important in determining breast density, and heritable factors account for 60% of the variation. Certain single nucleotide polymorphisms (SNPs) are associated with density and risk of breast cancer but the association with prognosis is not clear. Purpose: To investigate associations between selected SNPs and breast cancer survival in the Malmö Diet and Cancer Study

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

CDG-Ib is the 'gastro-intestinal' type of the congenital disorders of glycosylation (CDG) and a potentially treatable disorder. It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum and other glycoproteins. CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphoma

"Att famna komplexiteten" - aktionsforskning, teologi och organisatoriskt lärande

Aktionsforskning bjuder in många röster att delta i formandet av ny kunskap. I den teologiska aktionsforskningen som kapitlet beskriver, relateras de här rösterna dels till gjorda erfarenheter, dels till teologiska källor och traditioner såsom en text från evangelierna. Forskningsprocessen om lokala skeenden under flyktingmottagandet 2015 bidrar till ett organisatoriskt lärande genom ett ge rum fö

Progress on the Problem of Evil

A standard reaction to the problem of evil is to look for a greater good that can explain why God (with the traditional attributes) might have created this world instead of a seemingly better one which has no (or less) evil. This paper proposes an approach we call the Moral Progress Approach: Given the value of progress, a non-perfect world containing evil may be preferable to a perfect world with

Differential patterns of gray matter volumes and associated gene expression profiles in cognitively-defined Alzheimer's disease subgroups

The clinical presentation of Alzheimer's disease (AD) varies widely across individuals but the neurobiological mechanisms underlying this heterogeneity are largely unknown. Here, we compared regional gray matter (GM) volumes and associated gene expression profiles between cognitively-defined subgroups of amyloid-β positive individuals clinically diagnosed with AD dementia (age: 66 ± 7, 47% male, M

Visualizing Errors in Rendered High Dynamic Range Images

A new error metric targeting rendered high dynamic range images is presented. Our method computes a composite visualization over a number of low dynamic range error maps of exposure compensated and tone mapped image pairs with automatically computed, or manually provided, parameters. We argue that our new error maps predict errors substantially better than metrics previously used in rendering. Sou

Gaia Early Data Release 3 : Building the Gaia DR3 source list - Cross-match of Gaia observations

Context. The Gaia Early Data Release 3 (Gaia EDR3) contains results derived from 78 billion individual field-of-view transits of 2.5 billion sources collected by the European Space Agency's Gaia mission during its first 34 months of continuous scanning of the sky. Aims. We describe the input data, which have the form of onboard detections, and the modeling and processing that is involved in cross-