Sentence examples for mutation leading the from inspiring English sources

For instance, we have recently detected a BMP15 mutation leading the potentially damaging variant S5R in a patient with severe ovarian dysfunction [ 20].

In vitro studies suggested decreased protein stability due to the p.Arg153>Trp mutation, leading the authors to postulate a mechanism of reduced dosage of NANOS3 expression in the ovaries leading to decreased PGC population and resulting in POI [ 39].

KIT is the first pig gene that has been confirmed that gene duplication and a splice mutation leading the skipping of exon 17 are responsible for the dominant white phenotype and peripheral blood cell [ 23, 24].

For instance, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) has confirmed that gene duplication and a splice mutation leading the skipping of exon 17 is responsible for the dominant white phenotype (Johansson et al. 2005; Pielberg et al. 2002).

In particular, the KIT gene is the most obvious copy number variable gene with functional significance, which has been confirmed that gene duplication and a splice mutation leading the skipping of exon 17 is responsible for the dominant white phenotype [ 58, 59].

This growth defect was further enhanced by the mutation located within the rRNA methytransferase spr0333 (p < 0.01) and by the mutation leading to the overexpression of the ABC gene spr1021.

MYD88 encodes for an adapter protein that affects the interleukin-1 and toll-like receptor pathway, with the L265P mutation leading to the dysregulation of the nuclear factor-kB and the JAK-signaling pathways.

The N255H mutation, leading to the discovery of the involvement of the KCNA1 gene in Mg2+ transport, locates in the third membrane-spanning domain and results in a non-functional channel.

It is possible that the mutation leading to the studied variant took place earlier and the estimate of nine generations ago is in fact the age estimate of a population bottleneck that occurred in the population.

Searches in the databases revealed that most of these genes are not flower specific, suggesting that probably the mutation leading to the breakdown of SI did not affected the S-locus determinants.

The mutation leading to the loss of this cleavage site actually stops APC from effectively inactivating both Factor Va and Factor VIIIa.