Sentence examples for mutation of human from inspiring English sources

It has been shown that mutation of human SOS1 gene is responsible for a rare hereditary gingival fibromatosis type 1, a benign gingival overgrowth.

While modification of Ser58 induced only partial dissociation, the engineered triple mutation of human 14-3-3ζ 14-3-3ζ 14-3-3ζfirst α-helocatedply monomerined the protein, allowing first structural analysis of the monomeric form.

Deletion and/or mutation of human DIA1R is associated with ASD-like syndromes and/or XLMR.

In previous studies, it was shown that R580A mutation of human TG2 TG2-R580AA) prevents GTP binding.

Briefly, Tg2576 mice expressing the Swedish mutation of human APP695 were obtained from Drs. G. Carlson and K. Hsiao-Ashe through Mayo Medical Venture [36].

For example, the G215R mutation (of human ClC-7) is the most frequent cause of autosomal dominant osteopetrosis type II (ADO II) [16], [17].

Mutated genes (determining the RCDP subtype) and mutations of human primary RCDP skin fibroblasts are summarized in Table 1.

Recent studies have identified mutations of human CTCF binding sites in various human cancer types including Wilms' tumor, leukaemia (Mullighan et al., 2011).

K173A and R176A mutations of human cGAS reduce cGAS activity (Civril et al., 2013) and R158E mutation of mouse cGAS fails to induce cGAMP synthesis (Li et al., 2013a).

A recent case-control association study described mutations of human OAS1 associated with clinical susceptibility to WNV infection.

Homozygous mutations of human IGF1 cause syndromic sensorineural deafness, decreased intrauterine and postnatal growth rates, and mental retardation.