Sentence examples for disease-causing mutant from inspiring English sources

A common theme in neurodegeneration is that for any given disease-causing mutant protein, a large number of interwoven cellular dysfunctions have been discovered.

These observations further support the need for empirical testing of each Fabry disease-causing mutant form of α-Gal A to identify those that are responsive to AT1001.

To explore the ERAD pathway, we studied V247M α-sarcoglycan, the second most frequently reported disease-causing mutant (Leiden Muscular Dystrophy pages at www.dmd.nl).nl

We generated transgenic Drosophila stocks expressing versions of the Drosophila A-type lamin that were homologous to the patient Lamin A/C variants and the known disease-causing mutant under control of the Gal4/UAS system (43).

An intriguing question, which we found little empirical evidence for or against, could be addressed in the fly by constructing a series of sensitized backgrounds utilizing different disease-causing mutant hINS alleles of varying effect on disease [ e.g., neonatal diabetes vs. maturity-onset diabetes of the young (Støy et al. 2007)] and comparing the composition of naturally occurring modifiers.

The most dramatic laminopathy-associated chromatin reorganization occurs in the premature aging disease Hutchinson Gilford progeria syndrome (HGPS), where the disease-causing mutant lamin A isoform progerin causes loss of heterochromatin and reduces mono- and trimethylation of lysines 9 and 20 on histone 3 (Scaffidi and Misteli 2006; Goldman et al. 2004).

P62 is ubiquitinated by wild-type parkin, but not by known disease-causing mutants (Fig. 5C and 5D).

We have previously obtained a preliminary model in order to explore the possible effects of FOXL2 disease-causing mutants according to their predicted structural positioning [26].

The amount of Rab7 disease-causing mutants pulled down by GST-RILP was significantly increased compared with wild-type Rab7 (Fig.  3D and E).

In previous work we have not observed any significant change in the intrinsic kinase specific activity of any of the WNK4 disease-causing mutants that we have tested (D. R. Alessi, unpublished work).

Integrating diverse biomedical and genomic data types can facilitate hypotheses synthesis about disease causing mutant genes.