Sentence examples for mutations implicate a from inspiring English sources

For example, discoveries using animal models of SCN1A or ARX mutations implicate a predominant role for interneurons due to disturbed GABAergic function.

Both mutations implicate a novel Nav1.4 domain in the pathophysiology of myotonia and periodic paralysis.

These mutations implicate a role for the mitochondria in proper function of the ovaries.

In contrast, a specific intragenic deletion due to DNA cleavage at specific sites characterizes fetal hprt mutations, implicating a developmental mistake in their genesis.

A surprising observation from the game-changing structural and functional genomic studies was the frequent involvement of ID3, TCF3 (encoding E2A), and CCND3 (encoding cyclin D3) mutations, implicating a new pathway of oncogenic cooperation in the pathogenesis of BL.

Many of the NTD-causing mouse mutations implicate specific signalling pathways such as non-canonical Wnt signalling (see below), maintenance of the cell cycle, regulation of the actin cytoskeleton, chromatin organization or epigenetic modifications including methylation and acetylation.

A subset of MB patients has been shown to carry germline and somatic SUFU mutations, implicating SUFU as a tumor suppressor [24].

Sifting through these somatic single nucleotide variants (SNVs) to pin down the few driver mutations implicated in cancer is a challenge.

Of the remaining 13 non-synonymous substitutions, 4 are described SNPs (NDUFS2 p.P20T and p.P352A, NDUFS7 p.P23L and NDUFV2 p.V29A), whilst the homozygous NDUFS8 sequence change in Patient 34 (p.P79L; Fig. 1) has been previously described by Loeffen et al. (1998 a ) as one of two heterozygous mutations implicated in the pathogenesis of a patient with Leigh-like syndrome.

Although the distribution of these mutations implicated in arRP reveals 15 affected exons, a trend for alterations in residues of the C-terminal region containing alternating EGF-Laminin G domains of the protein is observed.

Taken together, these data demonstrate the successful creation of isogenic CHO cells carrying an allelic series of mutations implicated in the regulation of splicing at the endogenous BAX gene.