Sentence examples for with mutations on from inspiring English sources

Non-random patterns of X inactivation lead to phenotypic variability in a number of human diseases associated with mutations on one of the two X chromosomes in female patients.

The only way the authors were able to interfere with cortical migration was by expressing Cxs with mutations on one of the conserved extracellular cysteines that would make it impossible for hemichannels to adhere to one another.

This study was conducted to evaluate fundus autofluorescence in patients with early-onset severe retinal dystrophy (EOSRD, or early-onset rod cone dystrophy) associated with mutations on both alleles of RPE65.

The importance of store-operated calcium influx in muscle is confirmed in mice lacking STIM1 which die perinatally and in patients with mutations on STIM1 or Orai1 who exhibit a myopathy exhibited by hypotonia.

For example, leptin with mutations on Ser-141 and Thr-142 totally lost its ability to activate leptin receptor but showed normal binding to leptin receptor [5].

In early-onset breast cancers, associated with mutations on BRCA1, CD133+ cells show CSCs properties [ 26].

One study showed that certain mutations on SmpB restore the function of the tmRNA with mutation on its resume codon upstream sequence (Watts et al, 2008, 2009).

A fragment consisting of the promoter sequences from –1 to –1568 and a fragment with mutation on the 5´ putative DRE were obtained by PCR, and the product was subcloned into the same vector as the full-length pAChE (pGL4.10) via BglII and HindIII restriction sites to produce the truncated construct pAChE-T-Luc and the mutated construct pAChE-M-Luc.

These results suggest that many female progeny mortality was associated with Hira mutations on one X chromosome.

The other tauopathies examined were frontotemporal dementia with parkinsonism associated with tau mutations on chromosome 17 (FTD), corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP).

In this case, we compare the proposed mutation against classical Evolutionary Programming approaches, with mutations based on Gaussian, Cauchy and chaotic maps.