Human Molecular Genetics is committed to the communication of high quality studies related to human molecular genetic disease mechanisms from the analysis of mutated genes and disease susceptibility through to therapeutics.

Human Molecular Genetics is committed to the communication of high quality studies related to human molecular genetic disease mechanisms from the analysis of mutated genes and disease susceptibility through to therapeutics.

Human Molecular Genetics, Volume 33, Issue 20, 15 October 2024, Pages 1800–1814, https://doi.org/10.1093/hmg/ddae116

Human Molecular Genetics, Volume 30, Issue 24, 15 December 2021, Pages 2371–2382, https://doi.org/10.1093/hmg/ddab204

Human Molecular Genetics, ddab231, https://doi.org/10.1093/hmg/ddab231 Published: 6 September 2021 Section: Editorial Extract

Cover: Genetic approaches, including sequencing genomic DNA samples of existing humans and extinct hominins, have made amazing impacts on understanding the origin of current human populations. The successful use of molecular genetics in evolutionary anthropology resulted in the 2022 Nobel Prize in Medicine awarded to Svante Pääbo.

Human Molecular Genetics publishes papers of excellence, wide interest and broad significance in all aspects of human molecular genetics. The emphasis of the journal is on full research papers of any length required for concise presentation and discussion of the data.

Apr 15, 2007 · One of the most compelling examples of the role of epigenetic gene silencing in the development of human cancer is the inactivation of DNA repair genes by promoter CpG island hypermethylation. Thus, an epigenetic lesion leads to a genetic lesion, a hypermethylation event that changes the entire molecular environment of the cell.

Nov 1, 2003 · The human homologue of this gene is therefore a strong candidate for involvement in novel forms of muscular dystrophy. We studied 36 patients with muscular dystrophy and either mental retardation, structural brain changes or abnormal α-dystroglycan immunolabelling, unlinked to any reported CMD loci.

Oct 1, 2000 · A human genetic disorder (ICF syndrome) has recently been shown to be caused by mutations in the DNA methyltransferase 3B (DNMT3B) gene. A second human disorder (Rett syndrome) has been found to result from mutations in the MECP2 gene, which encodes a protein that binds to methylated DNA.