Gene of the Month – August: DDX11

New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential [...]

Gene of the Month – July: MAPK1

De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes [...]

Gene of the Month – June: GP2

GP2 gene variants may be associated with an increased risk for pancreatic cancer. This is suggested by the results of a meta-analysis of three genome-wide association studies published in Nature [...]

Common genetic cause of unclear disorder in three children uncovered

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 [...]

Gene of the Month – May: FBRSL1

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 [...]

Gene of the Month – April: TET2

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 [...]

Kornak Research Group

Gene of the Month – March: EPHA2

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. [...]

Gene of the Month – February: TMEM120A/TACAN

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 [...]

Salinas Research Group