results the number of s. pneumoniae isolates resistant to benzylpenicillin, imipenem, oxacillin and ceftazidime were 94.5%, 100%, 100%, and 21.8%, respectively. analysis of mutation in the genes for pbp showed that 85% of isolates had mutations in pbp2x, pbp2b and pbp1a. susceptibility to benzylpenicillin was decreased once the number of mutated pbp genes in s. pneumonia increased. according to...

OBJECTIVE Epilepsy and intellectual/developmental disabilities (ID/DD) have a high rate of co-occurrence. Here, we investigated gene mutations in Chinese children with unexplained epilepsy and ID/DD. METHODS We used targeted next-generation sequencing to detect mutations within 300 genes related to epilepsy and ID/DD in 253 Chinese children with unexplained epilepsy and ID/DD. A series of fil...

Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...

The presence of mouse embryonic stem (ES) cells makes the mouse a powerful model organism for reverse genetics, gene function study through mutagenesis of specific genes. In contrast, forward genetics, identification of mutated genes responsible for specific phenotypes, has an advantage to uncover novel pathways and unknown genes because no a priori assumptions are made about the mutated genes....

objective: the role of vitamin d has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. relationship between obesity and vitamin d has not as yet been fully established. the objective of the study was to determine the possible relationship between vitamin d receptor (vdr) gene polymorp...

Heterotrimeric guanine nucleotide-binding proteins (G proteins) mediate signals between G-protein coupled receptors and their downstream pathways, and have been shown to be mutated in cancer. In particular, GNAQ was found to be frequently mutated in blue nevi of the skin and uveal melanoma, acting as an oncogene in its mutated form. To further examine the role of heterotrimeric G proteins in ma...

BACKGROUND Characterisation of colorectal cancer (CRC) genomes by next-generation sequencing has led to the discovery of novel recurrently mutated genes. Nevertheless, genomic data has not yet been used for CRC prognostication. OBJECTIVE To identify recurrent somatic mutations with prognostic significance in patients with CRC. METHOD Exome sequencing was performed to identify somatic mutati...

We conducted a comprehensive analysis of a manually curated human signaling network containing 1634 nodes and 5089 signaling regulatory relations by integrating cancer-associated genetically and epigenetically altered genes. We find that cancer mutated genes are enriched in positive signaling regulatory loops, whereas the cancer-associated methylated genes are enriched in negative signaling reg...