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Identification of Genetic Risk Factors for Complex Disorders by Studying Patients with Associated Balanced Chromosomal Rearragements

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Reference: NGFN2 Abstract: Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the … Read more

Epigenetics of chronic heart failure

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Reference: Abstract: The focus of this project are epigenetic mechanisms that underlie the remodeling in the heart in the emergence of hypertrophy and failure and recovery after mechanical unloading.ﾠIn the foreground is the methyl-DNA-binding protein 2 (MeCP2), which specifically recognizes methylated DNA sequences, and thus can modulate gene expression.ﾠIn the continuation phase of this project, … Read more

From Synaptopathies to System Dysfunction

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Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more

Epigenetic dysfunction of MeCP2 in chronic heart failure (B03)

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Reference: B03 – Subproject to SFB 992: Medical Epigenetics (MEDEP) From basic mechanisms to clinical applications Abstract: The methyl-CpG-binding protein 2 (MeCP2) detects symmetrically methylated cytosine-guanine sequences (CpG) in the genomic DNA and modulate gene expression by recruiting coactivator and corepressor-proteins.ﾠWe found that MeCP2 is significantly downregulated in hypertrophic and failing heart.ﾠThe functional significance of … Read more

Downstream Effects of MECP1 Mutations in Rett Syndrome and other forms of X-linked mental retardation Studied by cDNA arrays (C 3)

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Reference: C3 – Subproject to SFB 577: Molecular Basis of Clinical variability in Mendelian Disorders Abstract: PROJECT DETAILS  beginning: 2001. end: 2004. Country of research: Germany Counry of funding source: Germany Funding organization: GermanﾠResearch Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink

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