Sentence examples for mutations in type from inspiring English sources

As nearly all fibrillar collagens are linked to human disease, we suspect that mutations in type XXVII collagen may also lead to disease.

In human genetic studies, mutations in type IX collagen and COMP are associated with OA.

OI is most commonly caused by mutations in type I collagen.

We identified mutations in type I collagen genes in 59 of the 63 samples (Table  2).

Quinolone resistance in Enterobacteriaceae results mainly from mutations in type II DNA topoisomerase genes[ 1] and/or changes in the expression of outer membrane and efflux pumps[ 2].

We identified 61 distinct heterozygous mutations in type I collagen, including five non-synonymous rare variants of unknown significance, of which 43 had not been seen previously.

ARID1A, which often carries a point mutation in Type I endometrial cancer, is also mutated in 26% of clear cell carcinomas of the endometrium, and 18% of serous carcinomas.

It was recently shown that treatment of mice carrying a mutation in type I ryanodine receptor, that leads to death after short exposure to elevated temperature, with 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR) prevents heat-induced death [ 8].

Structural mutations in collagen type II and type IX cause severe chondrodysplasias and the cartilage degenerates.

This is most commonly due to a mutation in Type-I collagen, which fulfills a variety of structural roles and is the most abundant protein in mammals.

Malignant hyperthermia (MH) is a pharmacogenetic disorder most often linked to mutations in the type 1 ryanodine receptor (RyR1) or the skeletal L-type Ca2+ channel (CaV1.1).