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Researchers at the Institute of Human Genetics Göttingen have uncovered the genetic cause of a previously undescribed disorder associated with a combination of several malformations and [...]

Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the [...]

Variants of the TET2 gene might be a risk factor for the development of neurodegenerative diseases. In their study published in The American Journal of Human Genetics, US researchers initially [...]

Researchers from Germany and Japan identified EPHA2 as a new gene that causes Pendred syndrome if heterozygous mutations in the gene occur in combination with mutations in the SLC26A4 gene. [...]

The gene product of tmem120a in mice is involved in sensing mechanical pain. Canadian scientists report in Cell that they identified the protein as an ion channel with mechanosensitive [...]

A recently published study describes that the ARID1A gene plays a role in hormone dependency of tumor cells in breast cancer and provides new insights into the processes that lead to endocrine [...]

A postzygotic mutation in RHOA has been identified as the genetic cause of a distinct mosaic disorder in humans. RHOA is a member of the Rho family of GTPases, which have many roles in [...]

Variants of the MRAP2 gene have already been described as causing monogenic obesity. However, the precise functional consequences of these variants have remained unclear. Now a large study [...]