Rare and common genetic variants underlying the risk of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.

Prognostic Impact of 1-Year Changes in Creatinine- and Cystatin C-Based Estimated Glomerular Filtration Rate After Stroke on 5-Year Outcomes: Insights From the Third China National Stroke Registry.

Background: The impact of long-term renal function change on stroke outcomes remains unclear. This study used the CNSR-III (Third China National Stroke Registry) cohort to determine whether changes in estimated glomerular filtration rate based on creatinine and cystatin C (eGFR) during the first year post stroke were associated with 5-year stroke outcomes.

Methods And Results: We included 4270 patients with centrally tested serum creatinine and cystatin C at admission and 1 year post admission and evaluated 5-year follow-up data.

Drimane-type sesquiterpenoids and triterpenoids from the whole plant of with their antiproliferative and anti-inflammatory activities.

Saline-tolerant medicinal plants possess novel chemical constituents with high bioactivity because of their unique secondary metabolic pathways. an aquatic plant found in the coastal wetlands of the Yellow River Delta, was collected and studied in the present work. Ten drimane-type sesquiterpenoids and four triterpenoids, including six new ones (sinenseines A-F), were isolated from a whole plant of for the first time.

Automated tuning of a ring-assisted MZI-based interleaver for Kerr frequency combs.

We demonstrate a compact ring-assisted Mach-Zehnder interferometer (RAMZI)-based silicon photonic interleaver with a 400 GHz free spectral range (FSR), featuring flat passbands exceeding a spectral range of 50 nm. Additionally, we introduce a novel, to the best of our knowledge, add-on structure and tuning method enabling automated compensation for fabrication imperfections, precise shaping of the RAMZI flat-top passbands, and alignment with Kerr comb lines. Experimental results have shown successful interleaving of eight channels of distributed-feedback (DFB) lasers as well as a 200 GHz Kerr comb, both achieving an extinction ratio of approximately 20 dB.

Targeting FOXM1 condensates reduces breast tumour growth and metastasis.

Identifying phase-separated structures remains challenging, and effective intervention methods are currently lacking. Here we screened for phase-separated proteins in breast tumour cells and identified forkhead (FKH) box protein M1 (FOXM1) as the most prominent candidate. Oncogenic FOXM1 underwent liquid-liquid phase separation (LLPS) with FKH consensus DNA element, and compartmentalized the transcription apparatus in the nucleus, thereby sustaining chromatin accessibility and super-enhancer landscapes crucial for tumour metastatic outgrowth.