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Bernhard Horsthemke has made major contributions to the field of human genetics. His group has developed microcloning techniques for the analysis of specific chromosomal regions and identified several disease genes. A major focus of his work at the Institut für Humangenetik in Essen for the past twenty years has been the study of epimutations in human disease. His group was the first to demonstrate that tumour suppressor genes cannot only be inactivated by DNA mutations, but also by DNA methylation, and that defects in genomic imprinting lead to recognizable syndromes. His group then pioneered the use of DNA methylation testing in clinical practice. Based on the study of familiar cases of imprinting disorders, he developed the concept of an imprinting centre, which controls the domain-wide establishment and maintenance of genomic imprints.
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论文共 250 篇作者统计合作学者相似作者
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Clinical Epigeneticsno. 1 (2024): 1-22
Epigenetics & Chromatinno. 1 (2023): 1-3
SCIENTIFIC REPORTSno. 1 (2022): 1-12
biorxiv(2022)
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