The known hereditarily determined inborn errors of metabolism in humans affecting the transport or transformation of sulfur-containing compounds are listed. For each condition, the impaired enzyme or transport process is specified. It is emphasized that a given chemical abnormality may result from ...
Here we analysed the genome-wide sequences of 21,879 families with rare genetic diseases and identified 12 individuals with a hypermutated genome with between two and seven times more de novo single-nucleotide variants than expected. In most families (9 out of 12), the excess mutations came fr...
et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236–1241 (2015). Article CAS PubMed PubMed Central Google Scholar Bulik-Sullivan, B. K. et al. LD score regression distinguishes confounding from polygenicity in genome-wide association studies. ...
Much of this interest stems from a basic desire to know who humans are and why they are as they are. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component. The quest to...
“But questioning the dat a in this way means you can obtain information about health or disease status.“The real value here is that for some of these extreme rare diseases, the process of diagnosis can be many, many years. This kind of technology can help narrow down the search space ...
If follistatin works in humans, not only will muscular degenerative diseases have a cure, but sports and bodybuilding would have a new “natural” steroid. If you think Barry Bonds’ head is big, just wait until Ronnie Coleman starts shooting up with follistatin. ...
Our study highlights the enormous molecular genetic heterogeneity of combined HI and VI and the need to analyze larger gene panels (for both diseases of the auditory and visual system) in addition to known or suspected USH genes. Materials and methods Patients...
DNA sequences that proliferate in the genome using an RNA intermediate and a ‘copy-and-paste’ retrotransposition mechanism. Complex diseases Common diseases caused by interactions of genetics, behaviour and the environment. Long interspersed element 1 (LINE-1 or L1). An autonomous (protein-coding...
Genetic variability, as the most common type of event in the human body, has been reported to be involved in a considerable number of human diseases12,13,14,15,16. Therefore, we here on the first exploratory assess whether sumoylation related genetic variability impacts protein functions as we...
The real value here is that for some of these ultra-rare diseases, the process of diagnosis can be many. many years. This kind of technology can help narrow down the search space and then be confirmed through checking genetic markers. For some diseases, it will cut down the time to ...