Syndecan-4 expression is upregulated in endometriosis and contributes to an invasive phenotype.

Objective: To study the expression and function of syndecan-4 in endometriosis.

Design: Histopathological investigation of eutopic endometrium and experimental laboratory study on a cell line derived from epithelial endometriotic cells (12Z).

Setting: University hospital laboratory.

microRNA miR-200b affects proliferation, invasiveness and stemness of endometriotic cells by targeting ZEB1, ZEB2 and KLF4.

Endometriosis is characterized by growth of endometrial tissue at ectopic locations. Down-regulation of microRNA miR-200b is observed in endometriosis and malignant disease, driving tumour cells towards an invasive state by enhancing epithelial-to-mesenchymal transition (EMT). miR-200b up-regulation may inhibit EMT and invasive growth in endometriosis.

Expression of Genes Related to Germ Cell Lineage and Pluripotency in Single Cells and Colonies of Human Adult Germ Stem Cells.

The aim of this study was to elucidate the molecular status of single human adult germ stem cells (haGSCs) and haGSC colonies, which spontaneously developed from the CD49f MACS and matrix- (collagen-/laminin+ binding-) selected fraction of enriched spermatogonia. Single-cell transcriptional profiling by Fluidigm BioMark system of a long-term cultured haGSCs cluster in comparison to human embryonic stem cells (hESCs) and human fibroblasts (hFibs) revealed that haGSCs showed a characteristic germ- and pluripotency-associated gene expression profile with some similarities to hESCs and with a significant distinction from somatic hFibs. Genome-wide comparisons with microarray analysis confirmed that different haGSC colonies exhibited gene expression heterogeneity with more or less pluripotency.

The identification of malaria in paleopathology-An in-depth assessment of the strategies to detect malaria in ancient remains.

The comprehensive analyses of human remains from various places and time periods, either by immunological or molecular approaches, provide circumstantial evidence that malaria tropica haunted humankind at least since dynastic ancient Egypt. Here we summarize the "actual state-of-the-art" of these bio-molecular investigations and offer a solid basis for the discussion of the paleopathology of malaria in human history.

Differential gene expression profiling of enriched human spermatogonia after short- and long-term culture.

This study aimed to provide a molecular signature for enriched adult human stem/progenitor spermatogonia during short-term (<2 weeks) and long-term culture (up to more than 14 months) in comparison to human testicular fibroblasts and human embryonic stem cells. Human spermatogonia were isolated by CD49f magnetic activated cell sorting and collagen(-)/laminin(+) matrix binding from primary testis cultures obtained from ten adult men. For transcriptomic analysis, single spermatogonia-like cells were collected based on their morphology and dimensions using a micromanipulation system from the enriched germ cell cultures.

Reconstructing the life of an unknown (ca. 500 years-old South American Inca) mummy--multidisciplinary study of a Peruvian Inca mummy suggests severe Chagas disease and ritual homicide.

The paleopathological, paleoradiological, histological, molecular and forensic investigation of a female mummy (radiocarbon dated 1451-1642 AD) provides circumstantial evidence for massive skull trauma affecting a young adult female individual shortly before death along with chronic infection by Trypanosoma cruzi (Chagas disease). The mummy (initially assumed to be a German bog body) was localized by stable isotope analysis to South America at/near the Peruvian/Northern Chilean coast line. This is further supported by New World camelid fibers attached to her plaits, typical Inca-type skull deformation and the type of Wormian bone at her occiput.

Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders.

Background: Mutations in exon ORF15 of the retinitis pigmentosa GTPase regulator gene (RPGR) within chromosomal region Xp21.1 are a significant cause of a number of retinal disorders. The high mutation rate is ascribed to the highly repetitive, purine-rich tracts within the exon ORF15 sequence.

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Background: Paragangliomas are benign, slow-growing tumours of the head and neck region. The candidate gene for familial and some sporadic paragangliomas, SDHD (succinate dehydrogenase, subunit D), has been mapped to the PGL1 locus in 11q23.3.

Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutations.

Lack of regular cell-cell interaction is one major cause for neoplastic growth and metastasis. In head and neck squamous cell carcinomas a 10-fold down-regulation of connexin31.1 (GJB5) as well as mutations in the TGF-beta-receptor-II were reported.

PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations.

Achondroplasia (ACH) is a skeletal disorder (MIM100800) with an autosomal dominant Mendelian inheritance and complete penetrance. Here we report the screening of ancient bone samples for diagnostic ACH mutations. The diagnostic G-->A transition in the FGFR3 gene at cDNA position 1138 was detected in cloned polymerase chain reaction (PCR) products obtained from the dry mummy of the Semerchet tomb, Egypt (first dynasty, approximately 4,890-5,050 BP [before present]), and from an individual from Kirchheim, Germany (Merovingian period, approximately 1,300-1,500 BP), both of which had short stature.

High genetic variability of esterase loci in natural populations of Parus major, P. caeruleus, and P. ater.

In Parus major, P. caeruleus, and P. ater the genetic variation of 16 isozyme loci was determined.

Maintenance of clonal diversity in Dipsa bifurcata (Fallén, 1810) (Diptera: Lonchopteridae). II. Diapause stabilizes clonal coexistence.

We analyze a selection model analogous to a one-locus, two-allele haploid system that can explain recurrent seasonal changes in diversity for communities with diapausing species or populations with diapausing clones. The model demonstrates the potential influence of differential diapause on the stability of species and clonal coexistence and, by extension, on the maintenance of genetic polymorphism in general. Using estimates of clonal fitness values from populations of the parthenogenetic spear-winged fly Dipsa bifurcata (Fallén, 1810) (Diptera: Lonchopteridae), the model explains the long-term stable oscillation of clonal frequencies exhibited by these populations.

Sex-specific recombination rates in Parus major and P. caeruleus, an exception to Huxley's rule.

Huxley's rule predicts lower recombination rates in the heterogametic sex than in the homogametic one. The genotyping of Parus major and P. caeruleus families at 8 microsatellite and 4 enzyme loci yielded contradicting data.

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.

Many forms of autosomal dominant non-syndromic hearing impairment are known. While the underlying gene defects and causative mutations have been discovered for some forms, the gene responsible for DFNA4 has remained elusive to date. Examination of a German four-generation kindred led to the identification of a 1.

Spiking of contemporary human template DNA with ancient DNA extracts induces mutations under PCR and generates nonauthentic mitochondrial sequences.

Proof of authenticity is the greatest challenge in palaeogenetic research, and many safeguards have become standard routine in laboratories specialized on ancient DNA research. Here we describe an as-yet unknown source of artifacts that will require special attention in the future. We show that ancient DNA extracts on their own can have an inhibitory and mutagenic effect under PCR.

A nonredundant multicolor bar code as a screening tool for rearrangements in neoplasia.

A chromosome bar code describes the colored pattern of chromosome segments and is derived by multicolor fluorescence in situ hybridization (FISH) of defined molecular probes. Published approaches to the simultaneous differentiation of whole karyotypes with bar codes have not allowed the unequivocal identification of all chromosome segments because of color redundancy of the patterns from a multitude of identically colored segments. Here, we present a chromosome bar code approach in which the problem of color redundancy has been overcome.

Molecular phylogenetics employing modern and ancient DNA.

Comparative studies of DNA in recent populations and characterisation of ancient hereditary material have contributed very interesting facts to our understanding of evolution of modern mankind. Analysis of DNA homology in related species, assessment of mutations and polymorphisms in various populations and new DNA sequence data from prehistoric finds allowed - via sophisticated DNA extraction techniques, PCR, sequencing and digitalised processing of genetic information - insights into possible roots of Homo sapiens and related species, migration patterns and ancient cultural habits, thus enrhing the palaeoanthropological discipline. However, a presentation of this development would not be complete without pointing towards the methodological limitations and manifold presentations burdened with artifacts, data misinterpretation and unjustified conclusions.

Palaeopathological and variant conditions of the Homo heidelbergensis type specimen (Mauer, Germany).

Although early Homo specimens are now known from a number of African, Asian and European Middle Pleistocene sites, the taxon Homo heidelbergensis was initially introduced for the Mauer jaw recovered in 1907. Fossil hominids from the earlier Middle Pleistocene of Europe are very rare and the Mauer mandible is generally accepted as one of the most ancient, with an age of approximately 700 kyr. A new preparation of the mandible was conducted in 1996 and gave rise to the detailed palaeopathological examination which is presented here.

The oldest complete skeleton of an Australopithecus in Africa (StW 573).

Although 78 years have elapsed since the discovery at Taung of the Australopithecus africanus, and despite intensive fieldwork in East Africa which resulted in 32 years of non-stop excavation at Sterkfontein, there has not been a discovery to date of a reasonably intact skull and associated skeleton of an ape-man. The following report is an account of an extraordinary series of events that led to the discovery of a complete skeleton on an Australopithecus, and a preliminary assessment of the significance of the fossil, which is still 5 years after its discovery largely embedded in the Member 2 breccia of the Sterkfontein Caves near Krugersdorp, South Africa.

Epigenetic control of E-cadherin (CDH1) by CpG methylation in metastasising laryngeal cancer.

Intercellular adhesion is promoted by many-fold structures formed by interacting molecules. One prominent protein family, called cadherins, consists of calcium-dependent proteins contributing to cell differentiation, migration and extracellular signal transduction. E-cadherin, regularly expressed in epithelial tissues, displays aberrant activity patterns in a variety of tumors.

Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.

Human otoferlin, homologous to the Caenorhabditis elegans spermatogenesis factor FER-1 that was shown to be involved in membrane vesicle fusion, belongs to a group of membrane-anchored cytosolic proteins and is found expressed in brain, cochlear inner hair cells and vestibular type I sensory cells. Nonsense and missense mutations of OTOF lead to an autosomal recessive deafness phenotype (DFNB9). We describe here an unusual C-homopolymer dimorphism at position -136 of 5'-UTR of the OTOF short splice form.

Gastroprotective peptide trefoil factor family 2 gene is activated by upstream stimulating factor but not by c-Myc in gastrointestinal cancer cells.

Background: Damage to the gastrointestinal mucosa results in the acute up-regulation of the trefoil factor family peptides TFF1, TFF2, and TFF3. They possess protective, healing, and tumour suppressive functions. Little is known about the regulation of TFF gene expression.

Down-regulation of TFF expression in gastrointestinal cell lines by cytokines and nuclear factors.

Background And Aims: Trefoil peptides (TFF1, TFF2 and TFF3) are acute phase proteins up-regulated in response to gastrointestinal mucosal damage. They promote cell migration, protect and heal the mucosa and may function as tumorsuppressors. We assumed them to be regulated by the proinflammatory cytokines interleukin-1beta (IL1beta) and interleukin-6 (IL6), which trigger the transcriptional factors NF-kappaB and C/EBPbeta.