The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported ...

A mutant DJ-1 gene causes recessive Parkinson's disease, but the molecular mechanism of this process has not been well ...

According to textbooks, carriers of such recessive genes should not experience any disadvantage. However, we found that, as a group, they do have more medical diagnoses, and slightly fewer offspring.

"Recessive genes explain only small fraction of undiagnosed developmental disorders." ScienceDaily. ScienceDaily, 8 November 2018. <www.sciencedaily.com / releases / 2018 / 11 / 181108142236.htm>.

Tenascin-X deficiency is recessive, as shown by the occurrence of Ehlers–Danlos syndrome in only one generation in each family; the complete absence of tenascin-X protein from the serum, skin ...

Gene therapy appears to be a promising approach for a subset of genetic deafness, although challenges remain with development ...

Compared to other recessive genes, genes for intellectual disability were the most absent. Apparently, there is another aspect at play here. The UK Biobank data provide a clue. Gilissen: "Carriers ...

To understand how DJ-1 hydrolyzes cyclic 3-phosphoglyceric anhydride—a highly reactive, toxic cellular metabolite—researchers ...

When we talk about genes being dominant or recessive, we’re generally talking about traits controlled by the amount of a certain protein produced.

Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (Kv1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old O ...