Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.

Background: Congenital unilateral renal agenesis (URA) is a kind of rare birth defect during fetal development with varies clinical phenotypes. The pathogenesis and the relationship between gene and phenotype are still unclear.

Methods: Ten URA fetuses were followed up after birth using postnatal renal ultrasound examination to confirm the diagnosis with nine children were URA and one was Renal Ectopy (RE).

Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.

Oral-facial-digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI.

Eukaryotic initiation factor 3, subunit C silencing inhibits cell proliferation and promotes apoptosis in human ovarian cancer cells.

Ovarian cancer remains the leading cause of death among all gynaecological cancers, illustrating the urgent need to understand the molecular mechanisms involved in this disease. Eukaryotic initiation factor 3c (EIF3c) plays an important role in protein translation and cancer cell growth and proliferation, but its role in human ovarian cancer is unclear. Our results showed that EIF3c silencing significantly up-regulated 217 and down-regulated 340 genes.

Prognostic Significance of Cytokeratin 19 and Squamous Cell Cancer Antigen in Histologically Negative Sentinel Lymph Nodes of Cervical Squamous Cell Carcinoma.

Objective: The aim of the study was to evaluate the prognostic value of positive cytokeratin 19 (CK19) and squamous cell cancer antigen (SCCAg) expression in histologically negative sentinel lymph nodes after surgery for cervical squamous cell carcinoma.

Methods: Immunohistochemistry was performed to detect the expression of CK19 and SCCAg using polyclonal antibody on 149 pair of formalin-fixed, paraffin-embedded cervical squamous cell carcinoma and histologically negative sentinel lymph node tissue samples, and results were compared with data from the prospectively registry of cervical squamous cell carcinoma by univariate and multivariate logistic regression model focusing specifically on recurrence. The survival was assessed by the Kaplan-Meier method and proportional hazards model.

Danusertib Induces Apoptosis, Cell Cycle Arrest, and Autophagy but Inhibits Epithelial to Mesenchymal Transition Involving PI3K/Akt/mTOR Signaling Pathway in Human Ovarian Cancer Cells.

Ovarian carcinoma (OC) is one of the most common gynecological malignancies, with a poor prognosis for patients at advanced stage. Danusertib (Danu) is a pan-inhibitor of the Aurora kinases with unclear anticancer effect and underlying mechanisms in OC treatment. This study aimed to examine the cancer cell killing effect and explore the possible mechanisms with a focus on proliferation, cell cycle progression, apoptosis, autophagy, and epithelial to mesenchymal transition (EMT) in human OC cell lines C13 and A2780cp.