Sentence examples for mutations or in from inspiring English sources
Activation of the Hedgehog (Hh) signalling pathway by sporadic mutations or in familial conditions such as Gorlin's syndrome is associated with tumorigenesis in skin, the cerebellum and skeletal muscle.
The condition can be caused by drug use, genetic mutations, or in utero infections.
At present, we don't know the exact effects of these mutations, or in combination with other concurring mutations at or around the receptor-binding site, on binding to human receptors.
In addition, several population genetic tests rely on ancestral reconstructions to reveal the action of natural selection on functional classes of mutations or in particular genetic regions [e.g.08], [09], [10], [11], [12], [13].
Defects in OFT development in human patients carrying JAGGED1 or NOTCH2 mutations or in mice carrying mutations in Notch ligands, receptors or target genes demonstrate the importance of this intercellular signaling pathway in arterial pole development [13] [20].
After maturation of the rod photoreceptors from RP9-iPS cells, Rhodopsin+ cells co-expressed Acrolein, a marker of lipid oxidation (Fig. 4E), while no Rhodopsin+/Acrolein+ cells were observed in iPS cells derived from other patients carrying different mutations or in normal iPS cells (Fig. 4F).
Of the 29 mutants incorrectly classified as wildtype, 25 (86%) were either missense mutations or in-frame insertions/deletions.
Both are full-length homologs with no frame-shift mutations or in-frame stop codons [ Additional File 18].
PIK3CA mutations are missense mutations or in-frame deletions and often affect the known hotspots of the protein (E542, E545 or the C-terminal domain, see [ 29]).
The type of PLEC mutations (PTC-causing mutations or in-frame insertions/deletions) influences the timing of MD onset (Chiaverini, et al., 2010).
For SHH, human mutations so far described have resulted in holoprosencephaly and microphthalmia, but these have so far been mis-sense mutations or in-frame deletions.
