Sentence examples for more severe mutations from inspiring English sources

The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases.

But in the new study, published in today's issue of Cell, a team of geneticists led by Bruce Baker of Stanford University, Jeff Hall of Brandeis University, Barbara Taylor of Oregon State University, and Steve Wasserman of the University of Texas Southwestern Medical Center in Dallas show that males with more severe mutations aren't just indiscriminate, but sexless.

One hypothesis is that more severe mutations might cause embryonic lethality and have hitherto remained undetected.

More severe mutations in NEMO result in incontinentia pigmenti, an ectodermal dysplasia without immunodeficiency that presents exclusively in females.

150 The onset is reported to be somewhat earlier, especially in carriers of the more severe mutations, eg, L444P.

More severe mutations in SCN2A are extremely rare, causing febrile and afebrile seizures 66 and refractory epilepsy with intellectual disability.

Hence, more severe mutation protocols can increase mutation frequency, but they also reduce the recovery of viable seeds dramatically.

We hypothesized that more severe LARGE mutations are associated with a more severe CMD phenotype in humans.

A recent report, however, suggested that disturbances in the renin aldosterone axis were seen in some patients with potentially more severe MC2R mutations.

Both the relatively mild nature of XLMR mutations in females and the preferential XCI skewing of duplications allow for maternal transmission of defective MECP2 alleles to male and female offspring [ 19, 20], a situation that is not possible with the more severe RTT mutations.

For example, in humans, COL4A1 mutations affecting the CB3 integrin-binding domain of α1.α1.α2(IV) lead to an apparent clinical sub-entity called HANAC (hereditary angiopathy with nephropathy, aneurysm and muscle cramps) syndrome (3, 4), and in mice, glycine mutations result in more severe phenotypes than mutations affecting lysine residues (5).