Sentence examples for mutation identified to from inspiring English sources

Of the as1 alleles that introduce point mutations [ 12],[ 37], as1-22 (formerly known as bibb-5) [ 12] represents the only missense mutation identified to date.

Interestingly, Heytens et al. [ 13] reported that the H398P mutation identified to correlate with male infertility appeared to be heterozygous, suggesting that in humans PLCζH398P may exert a dominant-negative effect on PLCζWT.

An association of the infection/colonization by B. cepacia with ACE gene D/I polymorphism was identified for patients without taking the CFTR mutation into account, OR: 4.509 (1.513 - 10.89), and for patients with one CFTR mutation identified to class I, II or III, OR: (1.43 - 40.38), for the D/D genotype (Table  4).

The first gene mutation identified to be causing heart disease was reported in 1993 [ 6]; since then, more than 1400 mutations have been detected in at least 20 genes [ 7] that encode sarcomere proteins, calcium-handling proteins, Z-disc proteins, and so forth.

Of note, the c.2270 A>C p.H757P substitution, which showed the highest PSIC score (3.488) by PolyPhen, is the first mutation identified to date that fall in the exon 20, only 10 amino acids prior to the end of the protein.

The mutations identified to date may be hypomorphs that result in identifiable abnormalities in some EpCAM-expressing epithelia (eg intestinal epithelia and perhaps ocular conjunctiva), but not others.

The latter represent the majority of disease-linked mutations identified to date.

Here, we summarize recent data obtained on architecture of complex I, and review the pathogenic mutations identified to date in nuclear structural complex I genes.

Here, we review all HMGCL mis-sense mutations identified to date, and their implication in enzyme structure and function is discussed.

Co-crystal structure of hydroxylated HIF-2α peptide encompassing residues 523 541, which cover over 90% of bona fide disease-causing EPAS1 mutations identified to date, bound to VBC complex revealed that class 1 mutations affect residues contacting pVHL while the vast majority of reported class 2 mutations are localized to a non-contacting kink region (residues 535 538; Fig. 3b).

Despite these important challenges of intratumoral, intermetastatic, intrametastatic and inter-patient variability, some important findings have been obtained by sequencing methods, primarily that more than 138 driver mutations identified to date can be divided into pathways involved in cell survival, cell fate, and genome maintenance [30].