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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Tango knock-ins visualize endogenous activity of G protein-coupled receptors in Drosophila.

Journal of Neurogenetics

G protein-coupled receptors (GPCRs) represent a family of seven-pass transmembrane protein receptors whose ligands include neuropeptides and small-...

A single male auditory response test to quantify auditory behavioral responses in Drosophila melanogaster.

Journal of Neurogenetics

Many animals utilize auditory signals to communicate with conspecific individuals. During courtship, males of the fruit fly Drosophila melanogaster...

Relevance of NAT2 genotype to anti-tuberculosis drug-induced hepatotoxicity in a Chinese Han population.

J Gene Med

Anti-tuberculosis drug-induced hepatotoxicity (ATDH) is a serious adverse drug reaction. The slow acetylator status of N-acetyl transferase 2 (NAT2) is a well-established risk factor for ATDH. One novel tagging single nucleotide polymorphisms (tagging SNP), rs1495741, in NAT2 has been found to be highly predictive of the NAT2 phenotype. The present study aimed to validate the relationships between tagging SNP rs1495741 and ATDH in a Chinese Han population.

A 1:2 matched case-control study was conducted using 235 ATDH cases and 470 controls. Conditional or unconditional logistic regression analysis was used to estimate the association between genotypes and the risk of ATDH according to the odds ratio (OR) with a 95% confidence interval (CI).

Patients carrying the AA genotype of tagging SNP rs1495741 were at a higher risk of ATDH than those carrying the GG genotype (OR=1.653, 95%CI: 1.050-2.601, 0.030). Subgroup analysis suggested that the AA genotype was a risk factor for ATDH in patients older than 50 years old (OR=2.486, 95%CI: 1.313-4.706, 0.005), over 50 kg (OR=1.757, 95%CI: 1.016-3.038, 0.044) or using a hepatoprotectant (OR=1.611, 95%CI: 1.009-2.572, 0.046). Tagging SNP rs1495741 was not a significant risk factor for moderate and severe hepatotoxicity but appears to be relevant to risk of mild hepatotoxicity specifically.

This study is the first to validate the relationships between the tagging SNP rs1495741 and ATDH in a Chinese population. Based on this case-control study, the NAT2 rs1495741 polymorphism is a risk factor for mild but not more severe ATDH in Chinese Han patients.

Evaluation of life cycle defective Adenovirus mutants for production of Adeno-Associated Virus vectors.

J Gene Med

Adeno-Associated Virus-based vectors are efficient and safe drug candidates for different in vivo gene therapy applications. With increasing numbers of clinical studies based on AAV2 vectors that include as therapeutic target not only rare but also common diseases there is an increased demand for the development of improved production technologies.

In this study we compared two life cycle defective Adenovirus mutants as helper viruses for AAV2 vector production. They had deletions either in the gene coding for the preterminal protein (pTP) that is expressed early in the viral life cycle and is essential for genome replication or in the gene coding for the 100K protein, a protein with many functions, of which one is involved in virus assembly. AAV2 vector production efficiencies were evaluated analyzing genome-containing particles by real-time PCR and functional units by transduction assays.

Somewhat contrary to our expectations the ∆100K mutant virus showed only a moderate efficiency as helper virus for AAV2 vector production, while the replication-deficient ∆pTP mutant supported AAV2 production nearly as efficiently as Adenovirus wild type. We also showed that temperature shift to 32 °C together with extended incubation times improved AAV2 vector productivity.

This study suggests advantages of using a ∆pTP mutant adenovirus rather than adenovirus wild type as helper virus for AAV2 production and also indicates that temperature shifts to lower temperatures may improve AAV2 vector production rates.

Design and construction of a recombinant LV with specific tropism to HER-overexpressed cancer cells: developing a new retargeting system for lentivirus vectors.

J Gene Med

Targeting of specific tissues and cells by viruses is one of the challenges faced by researchers. Lentiviral vectors (LVs) are one of the most promising gene delivery systems in cancer gene therapy. Therefore, we decided to design a novel lentiviral delivery system which expresses anti-Her2 DARPin on vector envelope to create a pseudotyped lentivirus for targeting Her2-positive cancer cells.

A helper plasmid producing the viral vector envelope containing anti-Her2 DARPin-G3 was constructed. LV was produced by transfer vector containing the GFP gene, and helper plasmids in HEK293 cells. The human breast cancer cell lines, SKBR3 (normal and with inhibited endocytosis) (Her2-positive), MDA-MB-231 (Her2-negative) were transduced by the recombinant viral vector. The GFP-based transduction rate determined by flow cytometry and fluorescence microscopy.

Anti-Her2 DARPIn concentration in DARPIn-LVs was significantly higher than VSV-G-LVs (no anti-Her2 control) (p < 0.0001). In flow cytometry assays, the percentage of transduction by recombinant LV was significantly higher in SKBR3 cells than SKBR3 cells with inhibited endocytosis (p = 0.0074) and MDA-MB-231 cells (p = 0.0037). In fluorescence microscopy assays, the percentage of transduction by new LV was significantly higher in SKBR3 cells was higher than SKBR3 cells with inhibited endocytosis (p = 0.0026) and MDA-MB-231 cells (p = 0.0014).

We constructed a new recombinant LV with a defect in cell entry directly, containing an anti-Her2 DARPin on vector envelope with specific tropism to Her2 receptor on Her2-positive cancer cells. We assumed that this viral vector transduces cells through an endocytosis-dependent process.

Correction to: Morphological diversity and connectivity of hippocampal interneurons.

Cell and Tissue Research

The original version of this article inadvertently presented a mistake regarding the termination zones of entorhinal cotex in the dentate gyrus. Th...

Expression and localization of MrgprD in mouse intestinal tract.

Cell and Tissue Research

MrgprD, a Mas-related G protein-coupled receptor, is initially identified in sensory neurons of mouse dorsal root ganglia (DRG) and has been sugges...

Healing potential of injectable Aloe vera hydrogel loaded by adipose-derived stem cell in skin tissue-engineering in a rat burn wound model.

Cell and Tissue Research

Adipose stem cells (ASCs) are a great promise in wound healing due to their potential in differentiating into various cell lineages and secreting g...

Gastric pentadecapeptide body protection compound BPC 157 and its role in accelerating musculoskeletal soft tissue healing.

Cell and Tissue Research

There is a current need for a therapy that can alleviate the social and economic burden that presents itself with debilitating and recurring muscul...

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 ...