High-throughput splicing assays identify known and novel WT1 exon 9 variants in nephrotic syndrome

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient samples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2 in order to investigate the impact of variants on splicing. BRCA2 exons 19-27 (MGBR2_ex19-27) were cloned in the...

Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia.

tively. The lower recoveries reflect coprecipitation of IMP with proteins, which agrees with previously published findings (1 ). Imprecision values (as CV, n 10) were 2.1%, 1.2%, and 1.0% (within-day CV) and 4.2%, 3.2%, and 2.4% (between-day CV) for 0.06, 0.54, and 3.00 mmol/L additions of IMP, respectively. The reproducibility values (CV) of migration times for 10 samples from healthy voluntee...

Vitamin D Receptor TaqI Gene Variant in Exon 9 and Polycystic Ovary Syndrome Risk

A high-throughput approach to identify specific neurotoxicants/ developmental toxicants in human neuronal cell function assays.

The (developmental) neurotoxicity hazard is still unknown for most chemicals. Establishing a test battery covering most of the relevant adverse outcome pathways may close this gap, without requiring a huge animal experimentation program. Ideally, each of the assays would cover multiple mechanisms of toxicity. One candidate test is the human LUHMES cell-based NeuriTox test. To evaluate its readi...

Using in Vitro High Throughput Screening Assays to Identify Potential Endocrine-Disrupting Chemicals

BACKGROUND Over the past 20 years, an increased focus on detecting environmental chemicals that pose a risk of adverse effects due to endocrine disruption has driven the creation of the U.S. Environmental Protection Agency (EPA) Endocrine Disruptor Screening Program (EDSP). Thousands of chemicals are subject to the EDSP; thus, processing these chemicals using current test batteries could requir...