Project description:To investigate the transcriptomic profile and molecular mechanisms using single cell RNA sequecning (scRNA-seq) analysis for the iPSC derived midbrain organoids from the patient of POLG Disease
Project description:Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication has not yet been reported. We first report the 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies. 11p11.12p12 duplication syndrome was identified by karyotype analysis. Next-generation sequencing (NGS) analysis clarified the location of the chromosomal variations, which was confirmed by chromosome microarray analysis (CMA). Whole-exome sequencing (WES) was performed to exclude single nucleotide variations (SNVs). The raw data of NGS analysis and WES have been submitted to SRA, the accession number is PRJNA713823.
Project description:The Xuanwei area is a hot spot of lung adenocarcinoma in females in China, which is strongly associated with the consumption of local smoky coal. Comprehensive characterization of its genomic and immunological landscapes is crucial for cancer prevention and the development of precision therapy. Here, we report extensive genomic, transcriptomic, and immunological profiles of 117 Xuanwei female lung adenocarcinoma (XWFA), comprising 112 pairs of tumour-normal whole-exon sequencing (WES) profiles and 33 normal and 115 tumour mRNA-seq profiles.
Project description:Acne inversa (AI) is an inflammatory skin disease associated with the nicastrin (NCSTN) mutations. Family history with autosomal dominant inheritance has heen reported in AI patients and are associated with mutations in the γ-secretase subunit, nicastrin (NCSTN), presenilin enhancer 2 (PSENEN), and presenilin-1 (PSEN1). Among them, NCSTN gene has the highest mutation rate. To detect the impact of NCSTN deficiency on AI keratinocytes. Here, using the short hairpin RNA (shRNA)-mediated gene knockdown and RNA sequencing technology, we explored the differentially expressed genes regulated by NCSTN deficiency in HaCaT cells.