Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology.

Mutations in the PRPF8 gene frequently result in retinitis pigmentosa (RP), an autosomal dominant inherited retinal disease that can lead to nyctalopia and progressive vision loss. Currently, no effective treatment is available. In this study, we used CRISPR/Cas9 technology to introduce a heterozygous point mutation inthe PRPF8 gene of a normal induced pluripotent stem cell (iPSC) line.

ABFML: A problem-oriented package for rapidly creating, screening, and optimizing new machine learning force fields.

Machine Learning Force Fields (MLFFs) require ongoing improvement and innovation to effectively address challenges across various domains. Developing MLFF models typically involves extensive screening, tuning, and iterative testing. However, existing packages based on a single mature descriptor or model are unsuitable for this process.

SMILE-Derived Corneal Stromal Lenticule: Experimental Study as a Corneal Repair Material and Drug Carrier.

Purpose: A detailed study of the physicochemical properties of SMILE-derived lenticules and evaluation of their drug delivery after loading with silver nanoparticles (AgNPs).

Methods: The lenticules were decellularized and modified with crosslinking concentrations of 0.01 (0.

Novel full-thickness biomimetic corneal model for studying pathogenesis and treatment of diabetic keratopathy.

Diabetic keratopathy (DK), a significant complication of diabetes, often leads to corneal damage and vision impairment. Effective models are essential for studying DK pathogenesis and evaluating potential therapeutic interventions. This study developed a novel biomimetic full-thickness corneal model for the first time, incorporating corneal epithelial cells, stromal cells, endothelial cells, and nerves to simulate DK conditions .

CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa.

PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.

Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene.

Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation.

Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.

X-linked retinoschisis (XLRS) is a common retinal genetic disease that occurs in juvenile males and causes progressive visual impairment. This presents a schisis in the macula or peripheral retina of bilateral eyes, which has no effective treatment. Here, we introduced the RS1 (c.

Identification, Expression, Characteristic Analysis, and Immune Function of Two Genes in Grass Carp ().

Intensive aquaculture of grass carp often leads to decreased immunity and increased disease prevalence, resulting in economic losses. Improving grass carp immunity is therefore a critical strategy for addressing these challenges. Akirin reportedly participates in myogenesis, growth, and immune responses.

Molecular dynamics-guided optimization of BGM0504 enhances dual-target agonism for combating diabetes and obesity.

The dual activation of glucagon-like peptide-1 receptor (GLP-1R) and glucose-dependent insulinotropic polypeptide receptor (GIPR) has emerged as a promising therapeutic strategy for managing type 2 diabetes and obesity. Tirzepatide, a dual agonist peptide, has exhibited superior clinical efficacy in glycemic and weight control compared to selective GLP-1R agonists. Nevertheless, the structural basis of Tirzepatide's extended half-life, attributed to an acylation side chain on the parent peptide, raises questions regarding its partial agonistic activity.

Somatic mutation contributes to tetralogy of Fallot.

Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart pathology and causes infant morbidity and mortality worldwide. GATA-binding protein 4 (GATA4) serves as a pivotal transcriptional factor for embryonic cardiogenesis and germline mutations are causally linked to TOF. However, the effects of somatic mutations on the pathogenesis of TOF remain to be ascertained.

Inhibition of gasdermin D palmitoylation by disulfiram is crucial for the treatment of myocardial infarction.

To investigate the role of S-palmitoylation in pyroptosis following acute myocardial infarction (AMI). Myocardial ischemic injury is mainly related to the death of terminally differentiated cardiomyocytes. Pyroptosis is a new form of programmed cell death and recently is identified a potential mechanism of cardiomyocyte loss.

Methods for RPE Sheet Construction Using iPS-CM in Conjunction with Natural Scaffold of Corneal Lenticule Derived from SMILE.

In vitro generation of a functional retinal pigment epithelium (RPE) monolayer sheet is useful and promising for RPE cell therapy. Here, we outline a method to construct engineered RPE sheets treated by induced pluripotent stem cell-conditioned medium (iPS-CM) in conjunction with femtosecond laser intrastromal lenticule (FLI-lenticule) scaffold to aid in enhanced RPE characteristics and cilium assembly. Such a strategy to construct RPE sheets is a promising avenue for developing RPE cell therapy, disease models, and drug screening tools.

One-stop assembly of adherent 3D retinal organoids from hiPSCs based on 3D-printed derived PDMS microwell platform.

The three-dimensional (3D) retinal organoids (ROs) derived from human induced pluripotent stem cells (hiPSCs), mimicking the growth and development of the human retina, is a promising model for investigating inherited retinal diseases. However, the efficient generation of homogenous ROs remains a challenge. Here we introduce a novel polydimethylsiloxane (PDMS) microwell platform containing 62 V-bottom micro-cavities for the ROs differentiation from hiPSCs.

Carbodiimide crosslinked decellularized lenticules as a drug carrier for sustained antibacterial eye treatments.

In this study, the drug-loading and antibacterial activity of carbodiimide/N-hydroxysuccinimide (EDC/NHS) crosslinked decellularized lenticules (CDLs) were evaluated. Small incision lenticule extraction derived lenticules were decellularized and modified with crosslinking concentrations of 0.00 (E/L00, non-crosslinked), 0.

VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.

Dilated cardiomyopathy (DCM), characteristic of left ventricular or biventricular dilation with systolic dysfunction, is the most common form of cardiomyopathy, and a leading cause of heart failure and sudden cardiac death. Aggregating evidence highlights the underlying genetic basis of DCM, and mutations in over 100 genes have been causally linked to DCM. Nevertheless, due to pronounced genetic heterogeneity, the genetic defects underpinning DCM in most cases remain obscure.

Pathways from self-disclosure to medical coping strategy among adolescents with moderate and major depression during the COVID-19 pandemic: A mediation of self-efficacy.

Background: The prevalence of adolescent depression in China during the COVID-19 pandemic is increasing. Self-disclosing depressive emotions could help release stress. Self-disclosure, which is a prerequisite for self-efficacy, can directly contribute to people's psychological health, and depression and the choice of coping strategy are determined by the level of self-efficacy perceived.

Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene.

Retinitis pigmentosa (RP) is one of the most common inherited retinal diseases characterized by nyctalopia, progressive vision loss and visual field contraction. we previously generated an induced pluripotent stem cell line (CSUASOi004-A) from a RP patient with heterozygous PRPF6 c.2699 G>A (p.

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.

Pre-mRNA processing factors (PRPFs) are vital components of the spliceosome and are involved in the physiological process necessary for pre-mRNA splicing to mature mRNA. As an important member, mutation resulting in autosomal dominant retinitis pigmentosa (adRP) is not common. Recently, we reported the establishment of an induced pluripotent stem cells (iPSCs; CSUASOi004-A) model by reprogramming the peripheral blood mononuclear cells of a -related adRP patient, which could recapitulate a consistent disease-specific genotype.

LM22B-10 promotes corneal nerve regeneration through in vitro 3D co-culture model and in vivo corneal injury model.

Corneal nerve wounding often causes abnormalities in the cornea and even blindness in severe cases. In this study, we construct a dorsal root ganglion-corneal stromal cell (DRG-CSC, DS) co-culture 3D model to explore the mechanism of corneal nerve regeneration. Firstly, this model consists of DRG collagen grafts sandwiched by orthogonally stacked and orderly arranged CSC-laden plastic compressed collagen.

SOX7 loss-of-function variation as a cause of familial congenital heart disease.

Introduction: As the most frequent type of birth defect in humans, congenital heart disease (CHD) leads to a large amount of morbidity and mortality as well as a tremendous socioeconomic burden. Accumulating studies have convincingly substantiated the pivotal roles of genetic defects in the occurrence of familial CHD, and deleterious variations in a great number of genes have been reported to cause various types of CHD. However, owing to pronounced genetic heterogeneity, the hereditary components underpinning CHD remain obscure in most cases.

Association Between METS-IR and Prehypertension or Hypertension Among Normoglycemia Subjects in Japan: A Retrospective Study.

Aim: Our study aimed to investigate the association between the novel non-insulin-based metabolic score for insulin resistance (METS-IR) index and pre-hypertension (HTN) or HTN in normoglycemia Japanese participants.

Methods: The NAGALA medical examination program at Murakami Memorial Hospital in Gifu, Japan was found in 1994. 15,453 participants enrolled in this program from 2004 to 2015 was included in this retrospective study to explore the association between the METS-IR index and pre-HTN or HTN.

MAPK-pathway inhibition mediates inflammatory reprogramming and sensitizes tumors to targeted activation of innate immunity sensor RIG-I.

Kinase inhibitors suppress the growth of oncogene driven cancer but also enforce the selection of treatment resistant cells that are thought to promote tumor relapse in patients. Here, we report transcriptomic and functional genomics analyses of cells and tumors within their microenvironment across different genotypes that persist during kinase inhibitor treatment. We uncover a conserved, MAPK/IRF1-mediated inflammatory response in tumors that undergo stemness- and senescence-associated reprogramming.

Complex renal cysts combined with hemorrhage during crizotinib treatment for ALK-rearranged lung adenocarcinoma.

The oral small-molecule tyrosine kinase inhibitor (TKI), crizotinib has been approved as a first-generation anaplastic lymphoma kinase (ALK) inhibitor in treatment of advanced ALK-positive non-small cell lung cancer (NSCLC). Recently, development of complex renal cysts has been reported with crizotinib usage, highlighting the importance of accurate differentiation between complex renal cysts and new metastasis in NSCLC. Here we describe a case study with confirmed EGFR wild-type and ALK-rearranged lung adenocarcinoma who developed complex renal cysts combined with hemorrhage during crizotinib treatment, with no abnormal clinical symptoms or kidney functions observed.