Sentence examples for mutations causing premature from inspiring English sources
Inactivation and eventual elimination of duplicated genes can be mediated by altered epigenetic regulation, deletions, TE insertions, and/or point mutations causing premature stop codons.
Col2a1 gene mutations cause premature degeneration of knee articular cartilage in disproportionate micromelia (Dmm) and spondyloepiphesial dysplasia congenita (sedc) mice.
97-1 cells have a homozygous TSC1 2295C>T mutation causing premature protein truncation at amino acid residue 692.
This mutation causes premature release of platelets from MKs both in vivo and in vitro.
Some cancer-related genes in Figure 7 correspond to cases of nonsense mutations, in other words point mutations causing a premature stop codon.
Homozygous nonsense and missense CFH mutations, causing either premature truncation of the protein or impaired protein secretion, respectively, have been reported in a few familial cases of autosomal recessive DDD or C3 glomerulonephritis and are associated with very low or undetectable CFH plasma levels.
Thus, the presence of sialic acid is crucial for the development of vertebrates, with mutations in the synthesis pathway causing premature death of mice embryos [ 7].
a PSSM and SIFT scores are not reported for mutations that cause premature stop codons or splice junction mutations In the nucleotide change column, the position is relative to the forward primer used for the specific target since we do not have the complete genomic sequence for all SBE genes.
In spite that this mutation introduces a stop codon, causing premature termination of the protein, it is considered in BIC as with no clinical significance.
Two of the expressed genes from G. max were reclassified as potential expressed pseudogenes ('pot. ψe' in Figure 1) because sequencing revealed the presence of frameshift mutations in their open reading frames, causing premature termination of protein synthesis.
An alternative explanation could be that the Cys to Ala mutation resulted in conformational change thereby causing premature degradation, although this seems unlikely as the mutant protein is expressed well in insect cells (cf. Fig. 3B) and in vivo (Fig. 5).
