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Deutsch oder Englisch – das ist hier die Frage

kontroversen und wichtigen Thema! Christian Kubisch & Reiner Siebert (für die Schriftleitung) Korrespondenzadresse Interessenkonflikt. C. Kubisch und R. Siebert geben an, dass kein Interessenkonflikt besteht

Seltene Tumordispositionssyndrome

Siebert 0 2 0 Institut für Humangenetik , Universitätsklinikum Ulm, Ulm , Deutschland 1 Institut für Humangenetik, Zentrum für erbliche Tumorerkrankungen, Biomedizinisches Zentrum, Universitätsklinikum

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome

Molekularzytogenetik: Prof. Dr. med. Reiner Siebert Universitätsklinikum Ulm Institut für Humangenetik Albert-Einstein-Allee 11, 89081 Ulm Referenzdiagnostik Molekulargenetik: Prof. Dr. med. Reinhard Schneppenheim

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Background Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature...

Liquid Biopsies

(federführend) Prof. Dr. med. Ute Felbor, Greifswald Prof. Dr. med. Christian Netzer, Köln Prof. Dr. med. Reiner Siebert, Kiel Prof. Dr. med. Dagmar Wieczorek, Düsseldorf 5 Institut für Humangenetik

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open reading frame (uORF) in the 5’ untranslated region (5’-UTR) of the androgen receptor (AR...

In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans

Treatment with recombinant human growth hormone (rhGH) has been consistently reported to induce transcriptional changes in various human tissues including peripheral blood. For other hormones it has been shown that the induction of such transcriptional effects is conferred or at least accompanied by DNA-methylation changes. To analyse effects of short term rhGH treatment on the...

Epigenome data release: a participant-centered approach to privacy protection

Lutsik 5 9 Mark A. Rothstein 5 8 Maxime Caron 1 5 Stephan Busche 1 5 Guillaume Bourque 1 5 Lars Rönnblom 5 7 Paul Flicek 5 6 Stephan Beck 5 11 Martin Hirst 5 10 Henk Stunnenberg 4 5 Reiner Siebert 3 5 Jörn

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform moles, spontaneous abortions and stillbirths, whereas live births are very rare. We have studied a patient with multiple anomalies born to a mother with a heterozygous NLRP7 mutation. By array-based CpG methylation analysis of blood DNA from the patient, his parents and 18 normal...

Hodgkin-Reed-Sternberg Cells in Classical Hodgkin Lymphoma Show Alterations of Genes Encoding the NADPH Oxidase Complex and Impaired Reactive Oxygen Species Synthesis Capacity

: Reiner Siebert obtained lecture fees to himself and research support to the Institute from Abbott. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials

Massive Transcriptional Perturbation in Subgroups of Diffuse Large B-Cell Lymphomas

by the BMBF grant HaematoSYS (No. 0315452A, Markus Loeffler, Reiner Siebert, Ju rgen Lauter, Maciej Rosolowski) granted by the German Minster of Education and Science (BMBF). The funders had no role in

Genetic Characteristics of the Human Hepatic Stellate Cell Line LX-2

The human hepatic cell line LX-2 has been described as tool to study mechanisms of hepatic fibrogenesis and the testing of antifibrotic compounds. It was originally generated by immortalisation with the Simian Vacuolating Virus 40 (SV40) transforming (T) antigen and subsequent propagation in low serum conditions. Although this immortalized line is used in an increasing number of...

B-SOLANA: an approach for the analysis of two-base encoding bisulfite sequencing data

Summary: Bisulfite sequencing, a combination of bisulfite treatment and high-throughput sequencing, has proved to be a valuable method for measuring DNA methylation at single base resolution. Here, we present B-SOLANA, an approach for the analysis of two-base encoding (colorspace) bisulfite sequencing data on the SOLiD platform of Life Technologies. It includes the alignment of...

Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions

Systematic interrogation of mutation or protein modification data is important to identify sites with functional consequences and to deduce global consequences from large data sets. Mechismo ( enables simultaneous consideration of thousands of 3D structures and biomolecular interactions to predict rapidly mechanistic consequences for mutations and...

Hypermethylation of the alternative AWT1 promoter in hematological malignancies is a highly specific marker for acute myeloid leukemias despite high expression levels

Background Wilms tumor 1 (WT1) is over-expressed in numerous cancers with respect to normal cells, and has either a tumor suppressor or oncogenic role depending on cellular context. This gene is associated with numerous alternatively spliced transcripts, which initiate from two different unique first exons within the WT1 and the alternative (A)WT1 promoter intervals. Within the...

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

Background Typical Williams-Beuren syndrome (WBS) is commonly caused by a ~1.5 Mb - ~1.8 Mb heterozygous deletion of contiguous genes at chromosome region 7q11.23. The majority of WBS cases occurs sporadically but few familial cases of autosomal dominant inheritance have been reported. Recent data demonstrated the existence of the paracentric inversion polymorphism at the WBS...

Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation

Sex differences are well known to be determinants of development, health and disease. Epigenetic mechanisms are also known to differ between men and women through X-inactivation in females. We hypothesized that epigenetic sex differences may also result from sex hormone functions, in particular from long-lasting androgen programming. We aimed at investigating whether inactivation...

DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples

Epigenetic mechanisms including DNA methylation are supposed to play a key role in fetal development. Here we have investigated fetal DNA-methylation levels of 27,578 CpG loci in 47 chorionic villi (CVS) and 16 amniotic cell (AC) samples. Methylation levels differed significantly between karyotypically normal AC and CVS for 2,014 genes. AC showed more extreme DNA-methylation...

Janus—a comprehensive tool investigating the two faces of transcription

Motivation: Protocols to generate strand-specific transcriptomes with next-generation sequencing platforms have been used by the scientific community roughly since 2008. Strand-specific reads allow for detection of antisense events and a higher resolution of expression profiles enabling extension of current transcript annotations. However, applications making use of this...