A5005271010- Hemophilia Treatment and Research
- Cancer-related gene regulation
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Blood Coagulation and Thrombosis Mechanisms
- Platelet Disorders and Treatments
- Prenatal Screening and Diagnostics
- Pregnancy and preeclampsia studies
- Genetics and Neurodevelopmental Disorders
- Gestational Trophoblastic Disease Studies
- Blood groups and transfusion
- RNA modifications and cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Virus-based gene therapy research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Chronic Myeloid Leukemia Treatments
- Genomics and Chromatin Dynamics
- Pancreatic function and diabetes
- Immunotherapy and Immune Responses
- Congenital heart defects research
- Erythrocyte Function and Pathophysiology
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Liver Disease Diagnosis and Treatment
University Hospital Bonn
2005-2024
Immungenetics (Germany)
2024
University of Bonn
2011-2022
Lebanese American University
2015-2019
University Hospital Heidelberg
2012
Central Institute of Mental Health
2012
Heidelberg University
2012
Institute for Transfusion Medicine
2003-2009
Johannes Gutenberg University Mainz
2007
Carl von Ossietzky Universität Oldenburg
2006
We previously mapped a maternal locus responsible for biparental complete hydatidiform moles (BiCHMs) to 19q13.4. The two index patients had total of 14 molar pregnancies, eight abortions at various developmental stages, and one 16-year-old healthy offspring. suggested that the defective gene deregulates expression imprinted genes. Here, we report methylation status four genes in BiCHMs from sisters, normal offspring, sporadic unrelated patients. Using bisulfite-based methods, demonstrate...
Previously, we reported on inter-individual and gender specific variations of LINE-1 methylation in healthy individuals. In this study, investigated whether variability could be influenced by age or sex hormones humans. To end, studied vivo blood-derived DNA from individuals aged 18 to 64 years young females at various hormone levels during the menstrual cycle. Our results show that no significant association with was observed. However, previously increase males reconfirmed. females,...
Abnormal sex chromosome numbers in humans are observed Turner (45,X) and Klinefelter (47,XXY) syndromes. Both syndromes associated with several clinical phenotypes, whose molecular mechanisms obscure, show a range of inter-individual penetrance. In order to understand the effect abnormal X on methylome its correlation variable phenotype, we performed genome-wide methylation analysis using MeDIP Illumina's Infinium assay individuals four karyotypes: 45,X, 46,XY, 46,XX, 47,XXY.DNA changes were...
In human and mouse most imprinted genes are arranged in chromosomal clusters. This linked organization suggests coordinated mechanisms controlling expression. We have sequenced 250 kb the centre of imprinting cluster on distal chromosome 7 compared it with orthologous Beckwith–Wiedemann gene 11p15.5. first comparative analysis revealed a high structural functional conservation six identified. However, several striking differences were also discovered. First, sequence is ∼40% longer, mostly...
The postreplicative methylation of DNA at the C5 position cytosines is found in a broad spectrum organisms ranging from prokaryotes to human (1). In major role cytosine (like adenine N6 and N4 methylation) protect genome against degrading nucleases (restriction/modification), whereas many eukaryotes (found within CpG dinucleotides) plays pivotal control gene expression, inactivation repetitive sequences, stability chromosomes, cell transformation leading development cancer. growing evidence...
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac tracheoesophageal fistula with or without esophageal atresia, renal and limb defects. As mutations in ciliary genes were observed diseases related to VATER/VACTERL, we performed targeted resequencing 25 candidate as well disease-associated (FOXF1, HOXD13, PTEN, ZIC3) 123 patients VATER/VACTERL-like phenotype. We detected no biallelic mutation any...
ABSTRACT Chronic alcohol abuse and dependence are associated with dysfunctional dopaminergic neurotransmission in mesocorticolimbic circuits. Genetic environmental factors have been shown to modulate susceptibility dependence, both may act through epigenetic mechanisms that can gene expression, e.g. DNA methylation at CpG sites. Recent studies suggested patterns change over time. However, few data available concerning the rate of these changes specific genes. A recent study found...
The precise mapping and quantification of DNA methylation as an epigenetic parameter during development in diseased tissues is great importance for functional genomics. Here we describe a rapid, quantitative method to assess levels at specific CpG sites using PCR products bisulfite-treated genomic DNA. Using single nucleotide primer extension (SNuPE) assays combination with ion pair reverse phase high performance liquid chromatography (IP RP HPLC) separation techniques, methylated...
Causes underlying inter-individual variations in DNA methylation profiles among normal healthy populations are not thoroughly understood. To investigate the contribution of genetic variation methyltransferase (DNMT) genes to such epigenetic variation, we performed a systematic search for polymorphisms all known human DNMT [ DNMT1 , DNMT3A DNMT3B DNMT3L and DNMT2 (TRDMT1 )] 192 males females. One hundred eleven different were detected. Of these, 24 located coding regions 10 resulted an amino...
Pancreatic tumors are usually diagnosed at an advanced stage in the progression of disease, thus reducing survival chances patients. Non-invasive early detection would greatly enhance therapy and rates. Toward this aim, we investigated a pilot study power methylation changes whole blood as predictive markers for pancreatic tumors. We levels selected CpG sites rich regions promoter p16, RARbeta, TNFRSF10C, APC, ACIN1, DAPK1, 3OST2, BCL2 CD44 30 tumor patients 49 matching controls. In...
Hypomethylation of long interspersed element (LINE)-1 has been observed in tumorigenesis when using degenerate assays, which provide an average across all repeats. However, it is unknown whether individual LINE-1 loci or different CpGs within one specific promoter are equally affected by methylation changes. Conceivably, studying changes at may be more informative than global assays for cancer diagnostics. Therefore, with the aim mapping single-CpG resolution and exploring diagnostic...
X chromosome inactivation is controlled by the cis-acting X-inactivation centre (Xic). In addition to initiating inactivation, Xic, which includes XIST: gene, involved in both a counting process that senses number of chromosomes and choice inactivate. Controlling elements lying 3' include DXPas34 locus. Deletion undifferentiated embryonic stem (ES) cells eliminates expression antisense transcript TSIX:, thought initiate from CpG island close to, but telomeric locus itself. leads non-random...
LINE-1 repeats account for ∼17% of the human genome. Little is known about their individual methylation patterns, because repetitive, almost identical sequences make them difficult to be individually targeted. Here, we used bisulfite conversion study at repeats. The loci studied included 39 X-linked and 5 autosomal loci. On X chromosome in women, found statistically significant less all L1Hs compared with men. Methylation L1P L1M did not correlate inactivation status host DNA, while majority...
Abstract Background Long interspersed nuclear elements ( LINE ‐1) sequences constitute a substantial portion of the human genome, and their methylation often correlating with global genomic methylation. Previous studies have highlighted feasibility using ‐1 to discriminate tumors from healthy tissues. However, most are based on only few specific CpG sites. Methods Herein, we performed systematic fine‐scale analysis at 14 CpGs located in 5′‐region consensus ‐1, bladder, colon, prostate,...