A novel variant c.7104 + 6T > A of linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the gene.

Chemodynamic therapy combined with endogenous ferroptosis based on "sea urchin-like" copper sulfide hydrogel for enhancing anti-tumor efficacy.

Chemodynamic therapy (CDT) is a promising strategy for cancer treatment, however, its application is restricted by low hydrogen peroxide (HO) concentration, insufficient reactive oxygen species (ROS) generation, and high glutathione (GSH) levels. Here, we developed an injectable thermosensitive hydrogel (DSUC-Gel) based on "sea urchin-like" copper sulfide nanoparticles (UCuS) loaded with dihydroartemisinin (DHA) and sulfasalazine (SAS) to overcome these limitations of CDT. DSUC was cleaved to release DHA, SAS and Cu under acidic tumor microenvironment to enhance CDT.

Circulating immunotherapy strategy based on pyroptosis and STING pathway: Mn-loaded paclitaxel prodrug nanoplatform against tumor progression and metastasis.

Immunotherapy has emerged as a promising strategy against tumors. However, its efficacy is limited by low immunogenicity, poor antigen presentation, and inadequate lymphocyte infiltration. Herein, we develop a nanoplatform (Mn-HSP) loaded with manganese ions (Mn) and paclitaxel (PTX) prodrug based on hyaluronic acid.

TAM-Hijacked Immunoreaction Rescued by Hypoxia-Pathway-Intervened Strategy for Enhanced Metastatic Cancer Immunotherapy.

Immunotherapy is regarded as a prospective strategy against metastatic cancer. However, tumor-associated macrophages (TAMs), which accumulate in hypoxic tumor microenvironment, reduce the effectiveness of immunotherapy by blocking or "hijacking" the initiation of the immune response. Here, a novel tumor-targeted nanoplatform loaded with hypoxia-pathway-intervened docosahexaenoic acid (DHA) and chemotherapeutic drug carfilzomib (CFZ) is developed, which realizes the rescue of TAM-hijacked immune response and effective metastatic cancer immunotherapy.

Downregulation of Circ_0088196 Contributes to the Development of Trophoblastic Cells through miR-133b Sponging Function to Affect the AHNAK Expression.

Objective: Preeclampsia (PE) is the most common gestational disease related to various biomolecules, including circular RNA. Hsa_circ_0088196 (circ_0088196) was aberrantly upregulated in PE tissues.

Design: This study focused on the further exploration of circ_0088196 in PE.

CTRP9 decreases high glucose‑induced trophoblast cell damage by reducing endoplasmic reticulum stress.

C1q/TNF‑α‑related protein 9 (CTRP9) is downregulated in gestational diabetes mellitus (GDM) and may exert a protective effect against GDM, although its mechanism of action is yet to be elucidated. To investigate the specific role of CTRP9 in GDM, the human placental trophoblast cell line HTR8/SVneo was treated with high glucose (HG) to simulate the environment of GDM . The effects of CTRP9 on the HTR8/SVneo cells and endoplasmic reticulum (ER) stress were analyzed before and after CTRP9 overexpression using reverse transcription‑quantitative PCR and western blotting.

A multifunctional nano system based on DNA and CeO for intracellular imaging of miRNA and enhancing photodynamic therapy.

An increased content of reactive oxygen species (ROS) is a primary feature of tumor cells. When the new homeostasis established by cancer cells with a high ROS level is destroyed, this leads to oxidative stress and apoptosis. In this study, a composite nanosystem was designed in which the DNA structure with the functions of miRNA detection and drug delivery is connected to CeO nanoclusters that exhibit enzyme-like activity to enable them to load drugs together.

Knockdown of protein phosphatase 5 inhibits ovarian cancer growth .

Ovarian cancer is the most common cause of gynecological cancer-related mortality. Serine/threonine protein phosphatase 5 (PP5, PPP5C) has been recognized to be involved in the regulation of multiple cellular signaling cascades that control diverse cellular processes, including cell growth, differentiation, proliferation, motility and apoptosis. In this study, to evaluate the functional role of PP5 in ovarian cancer cells, lentivirus-mediated RNA interference (RNAi) was applied to silence PPP5C in the human ovarian cancer cell line CAOV-3.

MicroRNA-145 suppresses mouse granulosa cell proliferation by targeting activin receptor IB.

MicroRNAs (miRNAs) are a class of 21- to 25-nucleotide non-coding RNAs, some of which are important gene regulators involved in folliculogenesis. In this study, we used CCK-8, real-time PCR and Western blot assays to demonstrate that miR-145 inhibits mouse granulosa cell (mGC) proliferation. Combined with the results of luciferase reporter assays that studied the 3'-untranslated region of ACVRIB mRNA, these assays identified ACVRIB as a direct target of miR-145.