Project description:We report the application of RNA-sequencing technology for high-throughput profiling of Drosophila that express clinical variants of feline-MyBPC3 associated with Hypertrophic Cardiomyopathy (HCM).
Project description:Despite evolving stem cell and organoid application of next-generation sequencing (NGS) at single cell level, current techniques in NGS library preparation are restrictive as individual samples within a single library are indistinguishable, necessitating the laborious and costly preparation of distinct libraries for each sample. To combat this challenge, we report the development of a novel poly(ß-amino) ester labeling system synthesized with inexpensive, common reagents, termed POLYseq, capable of efficiently delivering fluorescent molecules or sample-distinguishing DNA barcodes through non-covalent binding enabling rapid creation of custom libraries.
2021-06-22 | GSE163971 | GEO
Project description:Case Report: Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis
Project description:Multiple organ dysfunction syndrome (MODS) can result from a variety of initiating events such as infection or trauma. The clinical condition of some MODS patients may deteriorate and require intense resource and high-risk cardiopulmonary support via extracorporeal membrane oxygenation (ECMO). Until now, no diagnostic criteria/molecular biomarker has been developed to identify MODS patients who require subsequent ECMO support. We used multi-time point (0h, 72h and 8d) whole transcriptomics from total blood of 27 patients (contro-4, MODS-17 and ECMO-6) to derived the molecular signatures to diagnose the MODS patients required ECMO support. We observed that immune response (neutrophil level) was compromised in MODS patients, who required ECMO support. Differential gene expression analysis and gene ontology enrichment has revealed that epigenetic modifications has got activated during the MODS deterioration to ECMO. In addition, signature of 6 genes were identified using logistic regression, which can be used as putative diagnostic markers for patients needed ECMO support.
Project description:Medulloblastoma (MB) is the most prevalent pediatric cerebral cancer, but is rare in adults. The vast majority of MB arises sporadically but some few cases occur in association with germline alterations in genes such as PTCH1, SUFU, APC, and TP53. Additional genes are responsible for MB predisposition including some that have probably not been described so far either due to the rarity of the cases and/or to the low penetrance. Here we report the case of a 27 years old woman affected by Pitt Hopkins syndrome due to a heterozygous germline pathogenic variant in TCF4 who has developed a Sonic Hedgehog (SHH)-driven MB. Somatic loss of function variants of TCF4 have been identified in SHH MB especially among adults and this case raises the question of a predisposition to late-onset SHH MB associated with TCF4 germline alteration.
