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Dynamic Analysis of Gene Expression and Genome-wide Transcription Factor Binding during Lineage Specification of Multipotent Progenitors

We used the paradigmatic GATA-PU.1 axis to explore, at the systems level, dynamic relationships between transcription factor (TF) binding and global gene expression programs as multipotent cells differentiate. We combined global ChIP-seq of GATA1, GATA2, and PU.1 with expression profiling during differentiation to erythroid and neutrophil lineages. Our analysis reveals (1) differential complexity

Familial colorectal cancer type X: genetic profiles and phenotypic features.

Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) sy

Meta-analysis of gene-level tests for rare variant association.

The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level data. As the focus of genetic association studies shifts to rare variants, genes

Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry. : combined analysis of 111,421 individuals of European ancestry

Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. Therefore, we tested whether the aggregate effect of these loci is diminished in adults of European ancestry reporting high levels of physical activity. Twelve obesity-susceptibili

A new PCR-SSP method for HLA DR-DQ risk assessment for celiac disease.

BACKGROUND: Susceptibility to celiac disease is essentially restricted to carriers of specific HLA DQA1 and DQB1 alleles. We have developed a semi-automated sequence specific primer (SSP) PCR method for clinical HLA typing and compared the test results with those from a commercial method. METHODS: Primers for each DQA1 and DQB1 allele group were included in our PCR-SSP reaction to allow differenti

Direct conversion of human fibroblasts to dopaminergic neurons.

Recent reports demonstrate that somatic mouse cells can be directly converted to other mature cell types by using combined expression of defined factors. Here we show that the same strategy can be applied to human embryonic and postnatal fibroblasts. By overexpression of the transcription factors Ascl1, Brn2, and Myt1l, human fibroblasts were efficiently converted to functional neurons. We also de

Interactions between oral contraceptive status and GSTM1 and GSTT1 deletions on insulin-like growth factor-1 (IGF-1) plasma levels in young healthy women.

OBJECTIVE: Insulin-like growth factor-1 (IGF-1) is essential for the pubertal growth spurt and for normal mammary gland development. IGF-1 increases premenopausal breast cancer risk. Oral contraceptives (OCs) decrease IGF-1 in most women. The endogenous estrogens and their metabolites also influence IGF-1 levels. Glutathione S-transferases (GSTs) are involved in estrogen metabolism. We aimed to st

Towards optimised information about clinical trials; identification and validation of key issues in collaboration with cancer patient advocates.

DELLSON P., NILBERT M., BENDAHL P-O., MALMSTROM P. & CARLSSON C. (2010) European Journal of Cancer Care Towards optimised information about clinical trials; identification and validation of key issues in collaboration with cancer patient advocates Clinical trials are crucial to improve cancer treatment but recruitment is difficult. Optimised patient information has been recognised as a key iss

Functional properties of the human ventral mesencephalic neural stem cell line hVM1.

The human fetal ventral mesencephalon-derived stem cell line, hVM1, yields high number of tyrosine hydroxylase-expressing presumed dopaminergic neurons upon in vitro differentiation. Here we report that cells generated from this line differentiate into a neuronal phenotype, express electrophysiological properties of functional neurons and respond to neurotransmitters in vitro. However, the electro

Distribution of aldehyde dehydrogenase 1-positive stem cells in benign mammary tissue from women with and without breast cancer.

Isfoss B L, Holmqvist B, Alm P & Olsson H (2012) Histopathology Distribution of aldehyde dehydrogenase 1-positive stem cells in benign mammary tissue from women with and without breast cancer Aims: Aldehyde dehydrogenase 1 (ALDH1) in female breast tissue has been linked to stem cells, but little is known about the benign cellular organization in situ. We investigated the distribution of ALDH1-

Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-

Environmental and climatic aspects of the early to mid Holocene calcareous tufa and land mollusc fauna in southern Sweden

Popular Abstract in Swedish Denna avhandling är ett resultat av ett doktorandprojekt vid Kvartärgeologiska avdelningen, Lunds Universitet. Syftet med avhandlingen har varit att utröna huruvida bildningen av kalktuff i Sverige har varit beroende av klimatet samt under vilka tider och i vilken närmiljö tuffen bildats. I samband med under-sökningen har ett stort antal landsnäckor påträffats och analyAlthough deposition of freshwater calcium carbonates, tufa, has occurred in large areas with carbonate soil or bedrock in Sweden, no tufa formation has been observed in Sweden. To better understand the factors controlling tufa formation in southern Sweden, bio- and lithostratigraphical studies were carried out on (paludal) calcareous tufa deposits in the province of Skåne. The biostratigraphical m