Sentence examples for mutations in adhesion from inspiring English sources

Specifically, we show enrichment of mutations in adhesion molecules of MM cells, emphasizing the important role for the interaction of the MM cells with their microenvironment.

(d) Mutations in adhesion and extracellular matrix molecules such as integrins and laminin-β2 (LAMB2) play an important role in the pathogenesis of FSGS.

However, the frequent occurrence of somatic mutations in adhesion molecules in primary MM emphasizes their presumably important biological role for the interaction of the neoplastic plasma cells with their BM microenvironment.

Twenty mutations in adhesion molecules were found to be affected in at least 1 of the 43 primary MM samples and 1 cell line, were 'damaging' by at least 2 functional predictors and were validated by Sanger sequencing.

From this analysis, it remains unclear whether mutations in adhesion molecules might increase or decrease their function, that is, whether they might act as oncogenes or as tumor suppressors.

Of note, the MM sample with p53 deficiency carried the least number of mutations in adhesion- and RTK-associated molecules, suggesting a dominant pathogenetic event for the p53 alteration that might make additional mutations in the adhesion/RTK network dispensable.

Available gene expression and copy number data in six investigated MM cell lines allowed us to correlate the presence of specific mutations in adhesion-associated molecules with accompanying alterations on the mRNA expression and genomic copy number level.

In the six MM cell lines, selected mutations in RTKs and adhesion molecules were correlated with mRNA expression, chromosomal copy number changes and copy neutral loss of heterozygosity (Tables 3a and b, for mutation details see Supplementary Table S14).

Mutations in the cell adhesion molecule CRELD1 (encoded by the CRELD1 gene on Hsa3) have been postulated as a risk factor for AVSD in the euploid population, and contribute to AVSD in DS (Maslen, 2004).

The synaptic hypothesis was also confirmed by the discovery of mutations in trans-synaptic adhesion proteins, such as neuroligins and neurexins, in a small fraction of individuals with ASDs, which was proposed to alter synaptic homeostasis and/or impair synapse development[ 8, 9].

Our own whole-exome sequencing efforts, including five patient-derived (primary) MM samples, their matched normal DNA and six MM cell lines, provide in concert with previously published data of 38 MM patients—information on two additional, functionally related groups of genes that show an enrichment of mutations in MM, namely adhesion- and receptor tyrosine kinase (RTK -associated molecules.