ABCA3 (ATP Binding Cassette Subfamily A Member 3)

Our findings reveal that Sri-/- mice, compared to wild-type controls, exhibit: (1) impaired alveolarization and abnormal development of bronchi and bronchioles, as observed in histological sections; (2) decreased expression of genes encoding branching morphogenesis markers (e.g., Fgf10) and surfactant proteins (e.g., Sp-b, Sp-c and Abca3), as shown by real-time PCR; (3) increased glycogen content decreased lipid droplets, indicative of type II pneumocyte immaturity and impaired surfactant lipid production; (4) reduced levels of EGFR, RAS and RAB5C proteins, consistent with defects in lung maturation and surfactant protein recycling, as demonstrated by Western blot analysis; and (5) increased expression of phalloidin, α-smooth muscle actin and vimentin, suggesting increased bronchial thickening associated with airway tissue remodeling. Collectively, these data reveal a novel role for Sorcin in lung alveolarization, pulmonary surfactant production, and airway remodeling associated with bronchial contractility, supporting its involvement in respiratory diseases such as respiratory distress syndrome (RDS), asthma and chronic obstructive pulmonary disease (COPD).

This study highlights the specific patient's characteristics associated with a high or low molecular diagnostic yield in clinical practice. Furthermore, it emphasises the importance of establishing a molecular diagnosis in order to provide genetic counselling to the family.

Oral mucositis risk and severity in a pediatric population being treated for OS with HDMTX, doxorubicin, and cisplatin were associated with genes in the ABC family (ABCA3, ABCC2, and ABCC6 genes).

However, we found reduced relapse-free survival correlating with reduced RNA expression in select ABC transporters in 4929 breast cancer patients in a KMplot analysis. These findings highlight the potential role of ABC transporters in prostate and breast cancer prognosis and warrant further investigation into their therapeutic implications.

Furthermore, advanced feature extraction methods for analyzing neonatal cry signals offer a non-invasive means to differentiate between conditions like sepsis and nRDS. Overall, these findings emphasize the importance of combining biomarker analysis with advanced computational techniques to improve clinical decision-making and intervention strategies for managing BPD and nRDS in vulnerable preterm infants.

P1, N=60, Recruiting, Children's Hospital of Fudan University | Not yet recruiting --> Recruiting

Subsequently, the ceRNA network between miR-326 and LncRNAs was exhibited and the impact of exogenous miR-326 on the expression levels of its molecular sponges, H19 and SNHG1 was examined using RT-qPCR. Future studies will explore the potential impact of miR-326 on its targets, and how this may influence the development of novel therapeutic strategies for ALL.

CsA treatment might be helpful for certain patients with ABCA3 deficiency, however, currently strong clinical supporting evidence is lacking. Appropriate trials are necessary to overcome this unmet need.

P1, N=60, Not yet recruiting, Children's Hospital of Fudan University | Trial completion date: Oct 2026 --> Apr 2027 | Trial primary completion date: Apr 2026 --> Oct 2026

The high risk of lung cancer among SRG variant carriers suggests specific screening and diagnostic and therapeutic challenges. The benefit of regular CT scan follow-up should be evaluated.

Forty-nine DEGs were identified as potential candidate diagnostic biomarkers for patients with CRC lung metastasis in present study. Enrichment analysis indicated that immune responses and chemokine receptors bind chemokines may play a leading role in lung metastasis of CRC, and further studies are needed to validate these findings.