COL4A5 (Collagen Type IV Alpha 5 Chain)

Tnfsf15 homozygous knockout mice exhibited increased proteinuria and exacerbated glomerular injury compared with Tnfsf15(+/+) Alport mice during early disease. These findings support a protective role for Tnfsf15 in the early stages of Alport syndrome, mitigating proteinuria and limiting glomerular injury.

This study revealed uterine leiomyoma subtypes to have distinct chromosomal aberration landscapes. Our large sample collection, detailed subclassification and extensive expression data integration enabled the identification of rare aberrations and subtype-specificity not previously feasible. Further research is implicated in studying the recurrently aberrant regions to identify the specific targets. This study shows, once again, the benefits for accurate subtype information in leiomyoma research and provides a new framework for further studies - towards comprehensive knowledge on the tumorigenesis and potential subtype-specific diagnostic and therapeutic strategies.

Saccular IAs harbor somatic low AF variants in coding genes predicted to alter protein function. AFs occurred in a similar range within and between samples, suggesting a cell- based population driving the pathogenesis of saccular IAs. Recurrent variants in genes known to be involved in IAs such as COL4A5 as well as novel genes (eg, ERBb4 and PABIR3) also suggests a new frontier for further research.

The overexpression of NFIC and COL4A5 was closely related to the tumor, node, metastases stage of NPC patients. Collectively, our results suggest that NFIC transcriptionally activates COL4A5 and upregulates its expression, which mediates DDR1/Akt signaling and promotes the malignant behavior of NPC cells, leading to NPC progression.

Experimental validation with RT-qPCR confirmed the differential expression of the candidate biomarkers (ARRB1, RPS3A, COL4A5, COL1A2 and MED10) across the three CRC stages reinforcing their potential as stage-specific biomarkers in CRC progression. These findings provide a foundation to distinguish between the CRC stages and for the development of accurate stage-specific diagnostic and prognostic biomarkers, which helps in the development of more effective therapeutic strategies for CRC.

Integrating biomarker-based diagnostics and genetic profiling could transform fibroid detection and management, reducing reliance on invasive procedures. This review highlights the urgent need for improved diagnostic tools, prognostic markers, and targeted therapies for uterine fibroids.

P2, N=67, Recruiting, Travere Therapeutics, Inc. | Trial completion date: Jun 2025 --> Apr 2027 | Trial primary completion date: May 2025 --> Mar 2027

P=N/A, N=440, Recruiting, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine; Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Me

This study highlights the utility of bulk RNA sequencing studies in conjunction with IHC to identify target genes and biological processes responsible for RIF in tissues at final breast reconstruction. Due to the sample size limitation, further research is warranted to understand the role of keratin and collagen genes in regulating epidermal changes, vascularity, and fibrosis.

Diffuse leiomyomatosis, a rare benign neoplasm associated with AS, typically manifests as dysphagia, but in this case, it presented initially with asthma-like symptoms. This case emphasizes the importance of imaging when asthma treatment fails, particularly in patients with coexisting conditions of another system.

In the study population, we observed various causes and clinical differences in the retinal fleck patterns among Koreans, including RDH5-related fundus albipunctatus and Alport syndrome. Despite reports of night blindness symptoms in some cases, all patients demonstrated satisfactory corrected visual acuity.