The latest medical research on Clinical Genetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical genetics gathered by our medical AI research bot.

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Ginsenoside Rh2 inhibits proliferation but promotes apoptosis and autophagy by down-regulating microRNA-638 in human retinoblastoma cells.

Experimental and Molecular Medicine

Even though recent therapeutic advances make retinoblastoma (RB) becomes a curable tumor, the outcome of long-term survival is poor due to the risk...

TRAF4 promotes endometrial cancer cell growth and migration by activation of PI3K/AKT/Oct4 signaling.

Experimental and Molecular Medicine

Endometrial cancer (EC) is ranked as the most common gynecologic malignancy of the female genital tract and the fourth most common neoplasia in women. Accumulated evidences revealed that TRAF4 plays a critical role in the progress of various cancers, but its functions in EC remains unclear. This study aimed to explore the role and mechanism of TRAF4 in EC progress.

TRAF4 expression in EC tissues were assessed by qRT-PCR, IHC and western blot. TRAF4 expression in Ishikawa and primary EC cells was inhibited and overexpressed by transient transfections. Thereafter, cell proliferation was identified by combination of clone formation assay and Ki67 staining assay. Cell viability, apoptosis and migration were respectively measured by MTT assay, flow cytometry assay and transwell migration assay. Furthermore, qRT-PCR and western blot analysis were mainly performed to assess the expression levels of apoptosis-related proteins and PI3K/AKT/Oct4 pathway proteins.

TRAF4 was up-regulated in EC tissues. Knockdown of TRAF4 induced cell apoptosis and inhibited cell proliferation and migration. However, TRAF4 overexpression increased cell proliferation and migration. Furthermore, we found TRAF4 down-regulation repressed the activation of PI3K/AKT signaling pathway in Ishikawa and primary EC cells. We also found that Oct4 was a downstream factor of PI3K/AKT pathway and was positively regulated by TRAF4. TRAF4 may increase cell viability through PI3K/AKT/Oct4 pathway.

The present study demonstrated that TRAF4 may exert an oncogenic role in EC progress via its regulation of PI3K/AKT/Oct4 pathway.

Expression of Slc35f1 in the murine brain.

Cell and Tissue Research

The solute carrier (SLC) group of membrane transport proteins includes about 400 members organized into more than 50 families. The SLC family that ...

Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.

Eur J Med

Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosai...

Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.

Eur J Med

Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental ret...

Telomeres and genomic instability during early development.

Eur J Med

Genomic instability is widespread during early embryo development. Aneuploidy, mosaicism, and copy number variants (CNVs) commonly appear in human ...

LncRNA MIR22HG inhibits cell proliferation and migration in cholangiocarcinoma through negatively regulating Wnt/β-catenin signaling pathway.

J Gene Med

Cholangiocarcinoma (CCA), one of the most common primary biliary malignant tumors with high mortality. MIR22HG has been reported to act as a tumor-suppressor gene in several types of cancers. But, the role and molecular regulatory mechanism of MIR22HG in CCA are still unclear.

The aim of the present study is to investigate the role and the underlying mechanism of MIR22HG in CCA.

In this study, we firstly found that MIR22HG expression was significantly downregulated in CCA tissues and cell lines. Moreover, MIR22HG expression was related to TNM stage and bore prognostic significance in CCA patients. Function experiments demonstrated that overexpression of MIR22HG inhibited cell proliferation, migration and invasion in CCA, while knockdown of MIR22HG caused an opposite result. It was discovered that MIR22HG negatively regulated the mRNA and expression levels proteins in Wnt/β-catenin signaling pathway (β-catenin, cyclin D1 and c-myc). The effect of MIR22HG overexpression on CCA progression could be partly rescued by activating Wnt/β-catenin signaling pathway. MIR22HG suppressed CCA tumorigenesis in vivo.

In summary, these data illustrated that MIR22HG repressed cell proliferation, migration and invasion in CCA through negatively regulating Wnt/β-catenin signaling pathway, and that MIR22HG may be a novel target for diagnosis and therapy in CCA.

MDM2 and its functional polymorphism SNP309 contribute to the development of esophageal carcinoma.

J Gene Med

Overexpression of the Murine Double Minute 2 (MDM2) has been explored in many tumors with high proliferation and anti-apoptosis ability. However, the role of MDM2 and its functional SNP rs2279744 (also known as SNP309) in esophageal squamous cell carcinoma (ESCC) remains unclear.

We performed genotype study of blood samples through 360 ESCC patients and 360 healthy control to determine the risk of rs2279744 various in ESCC. To further evaluate the role of rs2279744 in regulating MDM2 expression, we performed allele-specific reporter assay and tested if the SNP-containing sequences functioned as an active enhancer. To examine functional role of MDM2 on esophageal cancer cell lines, we carried out MTS assay and flow cytometry analysis.

From genotyping study, we found GG genotype of SNP309 has significantly increased the risk of ESCC in additive model (OR=2.55, 95% CI=1.66-3.89, p=1.5E-5) and in recessive model (OR=2.44, 95%CI= 1.69-3.51, p=1.60E-06). Furthermore, G allele was significant associated with higher risk of ESCC (OR=1.56, 95%CI= 1.26-1.92, p=2.81E-05). In multivariate logistic regression analysis, GG genotype had 2.39 fold (95%CI=1.48-3.8) increased the occurrence of ESCC. Compared to allele T, the variant allele G had significant higher luciferase activity on promoter of MDM2 in both cell lines. By transfecting the gene to ESCC lines, we evaluated that overexpression of MDM2 significantly promote cell proliferation and anti-apoptosis.

MDM2 promoter SNP309 would be a risk factor for esophageal cancer. MDM2 promotes the proliferation and anti-apoptosis of ESCC.

Correction: Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution.

Genet Med

In the original version of this Article, the data for Mother ID 8; 13; 25; 31; and 47 of Table 2 was merged. This has now been corrected in both th...

Organic/inorganic nanohybrids as multifunctional gene delivery systems.

J Gene Med

In this review, we summarize the rational design and versatile applications of organic/inorganic hybrid gene carriers as multifunctional delivery systems.

All these information might offer guidance for the understanding of organic/inorganic nanohybrids as multifunctional gene delivery systems.

The transformation of medical genetics by clinical genomics: hubris meets humility.

Genet Med

There is no question that the advent of massively parallel ("next-generation") DNA sequencing has thrust Medical Genetics and Molecular Diagnostics...

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Genet Med

Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly.

We performed clinical assessment, high-resolution chromosomal microarray analysis, exome sequencing, and functional studies in 62 patients (58% with primary microcephaly [PM], 27% with secondary microcephaly [SM], and 15% of unknown onset).

We found severity of developmental delay/intellectual disability correlating with severity of microcephaly in PM, but not SM. We detected causative variants in 48.4% of patients and found divergent inheritance and variant pattern for PM (mainly recessive and likely gene-disrupting [LGD]) versus SM (all dominant de novo and evenly LGD or missense). While centrosome-related pathways were solely identified in PM, transcriptional regulation was the most frequently affected pathway in both SM and PM. Unexpectedly, we found causative variants in different mitochondria-related genes accounting for ~5% of patients, which emphasizes their role even in syndromic PM. Additionally, we delineated novel candidate genes involved in centrosome-related pathway (SPAG5, TEDC1), Wnt signaling (VPS26A, ZNRF3), and RNA trafficking (DDX1).

Our findings enable improved evaluation and genetic counseling of PM and SM patients and further elucidate microcephaly pathways.