Impact of the cytotoxic T-lymphocyte associated antigen-4 rs231775 A/G polymorphism on cancer risk.

Background: Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) is an immunosuppressive checkpoint that is involved in the development and metastasis of cancers. Several studies revealed that CTLA-4 rs231775A/G polymorphism may be associated with the risk of cancer in some populations, but the conclusions of these studies are not consistent.

Methods: We conducted a pooled analysis with eligible studies to explore the association between the CTLA-4 rs231775 variant and cancer risk.

OSM May Serve as a Biomarker of Poor Prognosis in Clear Cell Renal Cell Carcinoma and Promote Tumor Cell Invasion and Migration.

Background: Currently, the role of oncostatin M (OSM) in clear cell renal cell carcinoma (ccRCC) has not been investigated. This study will explore the impact of OSM on ccRCC expression, prognosis, and cell function.

Materials And Methods: In this study, we used The Cancer Genome Atlas (TCGA) database to evaluate OSM expression characteristics, pathogenic factor distribution, and prognostic aspects in ccRCC.

Expression Is Associated with PPARG in Bladder Transitional Cell Carcinoma.

Background: The gene was first discovered in acute pancreatitis and functions as an oncogene in cancer progression and drug resistance. However, the role of in bladder transitional cell carcinoma (BTCC) is still unclear.

Methods: The Cancer Genome Atlas database and immunohistochemical analysis were adopted to evaluate expression in BTCC.

NUPR1 imparts oncogenic potential in bladder cancer.

Background: NUPR1, or p8, is a small chromatin protein that plays a central role in the resistance to treatment and progression of cancer. Nevertheless, the molecular mechanism of NUPR1 in bladder cancer (BLCA) remains unclear.

Methods: We used online databases and immunohistochemistry (IHC) to explore the expression of NUPR1 in BLCA tissues and controls.

Gene expression and prognosis of x-ray repair cross-complementing family members in non-small cell lung cancer.

The X-ray repair cross-complementing gene () family participates in DNA damage repair and its dysregulation is associated with the development and progression of a variety of cancers. However, have not been systematically studied in non-small cell lung cancer (NSCLC). Using The Cancer Genome Atlas (TCGA) and Oncomine databases, we compared the expression levels of between NSCLC and normal tissues and performed survival analysis using the data from TCGA.

Effect of interleukin-8 receptor B (IL8RB) rs1126579 C>T variation on the risk to cancer.

Chemokines are a type of cytokine that participate in the migration of macrophages and monocytes to inflammatory cells. In particular, CXC chemokines are involved in the development of many cancers. Evidence for the association between () rs1126579 C > T variation and cancer risk remains contradictory.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.

Background: Optic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity. Compound heterozygous or homozygous variants that lead to severe phenotypes, including Behr syndrome, have been reported rarely.

Case Presentation: Here, we present a 14-month-old boy with early onset optic atrophy, congenital cataracts, neuromuscular disorders, mental retardation, and developmental delay.

Use of magnetic resonance imaging combined with gene analysis for the diagnosis of fetal congenital heart disease.

Background: Fetal deformity is a disease caused by abnormal chromosome structure, which may be influenced by genetic factors as well as the maternal and external environment. Magnetic resonance imaging (MRI) may be used to effectively diagnose fetus deformities. However it has been reported that gene analysis is a more accurate diagnostic method.