Alterations of Sensory-related Functional Brain Network Connectivity in Homozygous Knockout Mice.

Unlabelled: () is a neuro-specific gene linked to neurodevelopmental disorders and has recently been reported to function as a bidirectional emotional regulator, highlighting its molecular roles in the nervous system. However, the connections between , brain architecture, and functionality remain to be fully elucidated. Our study utilized 11.

Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study.

Background: Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) has been widely utilized to select euploid embryos in patients carrying balanced chromosomal rearrangements (BCRs) by chromosome copy number analysis. However, reliable and extensively validated PGT-SR methods for selecting embryos without BCRs in large-cohort studies are lacking.

Methods: In this prospective, multicenter, cohort study, carriers with BCRs undergoing PGT-SR were recruited across 12 academic fertility centers within China.

Causal evidence of the relationship between polycystic ovary syndrome and obstructive sleep apnea in European and East Asian populations: a two-sample Mendelian randomization study.

Background: Several studies have documented the high prevalence of obstructive sleep apnea (OSA) among women with polycystic ovary syndrome (PCOS). However, causal relationships between the two conditions remain unconfirmed. This study aims to assess the causal relationships between OSA and PCOS.

Identification of CCR7 as a potential biomarker in polycystic ovary syndrome through transcriptome sequencing and integrated bioinformatics.

Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder, yet its mechanisms remain elusive. This study employed transcriptome sequencing on granulosa cells from 5 PCOS women and 5 controls, followed by bioinformatic analyses. We identified 684 mRNAs and 167 lncRNAs with significant differential expression.

Transcriptomic profiling with vascular tension analyses reveals molecular targets and phenotypes in preeclamptic placental vasculature.

Introduction: The placental vascular system plays an important role in the development of pregnancy hypertension in preeclampsia. The gene profiles of whole placental tissue (containing blood vessels and many other structural components) and pure vascular tissue should be very different. All previous reports using RNA-seq analysis in the placenta have tested its whole tissue or the villous part, and thus the gene profiles in the pure placental blood vessels are unknown.

Bladder cancer immune-related markers: diagnosis, surveillance, and prognosis.

As an immune-related tumor type, bladder cancer has been attracting much attention in the study of its markers. In recent years, researchers have made rapid progress in the study of immune-related markers for bladder cancer. Studies have shown that immune-related markers play an important role in the diagnosis, prognosis assessment and treatment of bladder cancer.

Causal Link between Gut Microbiota and Infertility: A Two-sample Bidirectional Mendelian Randomization Study.

Objective: To investigate the associations of the gut microbiota with reproductive system diseases, including female infertility, male infertility, polycystic ovary syndrome (PCOS), primary ovarian failure, endometriosis, uterine fibroids, uterine polyps, sexual dysfunction, orchitis, and epididymitis.

Methods: A two-sample bidirectional Mendelian randomization (MR) analysis was performed to evaluate the potential causal relationship between the composition of gut microbiota and infertility, along with associated diseases.

Results: Sixteen strong causal associations between gut microbes and reproductive system diseases were identified.

Gq/G11 oncogenic mutations promote PD-L1 expression and suppress tumor immunity.

Uveal melanoma (UM) is the predominant form of eye cancer. The genes GNAQ and GNA11, encoding Gq and G11 respectively, are most frequently mutated in UM and are considered the major drivers of UM carcinogenesis by activating YAP. However, the mechanisms by which metastatic UM evades the immune system remain poorly understood.

Correlation between cardiometabolic index and female infertility: a cross-sectional analysis.

Background: Obesity and adverse lipid profile leads to female infertility. The cardiometabolic index (CMI) is a promising indicator for predicting obesity-related diseases. The correlation between CMI and female infertility merits further investigation.

The ovarian cancer-associated microbiome contributes to the tumor's inflammatory microenvironment.

A growing body of research has established a correlation between tumors and persistent chronic inflammatory infiltration. As a primary instigator of inflammation, the majority of microbiomes naturally residing within our bodies engage in a mutually beneficial symbiotic relationship. Nevertheless, alterations in the microbiome's composition or breaches in the normal barrier function can disrupt the internal environment's homeostasis, potentially leading to the development and progression of various diseases, including tumors.

An integrated view of the structure and function of the human 4D nucleome.

The dynamic three-dimensional (3D) organization of the human genome (the "4D Nucleome") is closely linked to genome function. Here, we integrate a wide variety of genomic data generated by the 4D Nucleome Project to provide a detailed view of human 3D genome organization in widely used embryonic stem cells (H1-hESCs) and immortalized fibroblasts (HFFc6). We provide extensive benchmarking of 3D genome mapping assays and integrate these diverse datasets to annotate spatial genomic features across scales.

Novel Loss-of-function Variants of ZP3 Associated with Premature Ovarian Insufficiency.

Premature ovarian insufficiency (POI) is one of the leading causes of female infertility. To date, the genetic etiology of POI has been elucidated in approximately 20-25% of the total cases. The human zona pellucida (ZP) plays an important role in the organization and differentiation of granulosa cells, follicle formation, and sperm recognition.

Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non-syndromic Premature Ovarian Insufficiency.

Two novel heterozygous missense mutations in BNC1 (NM_001717): c.1000A>G (p.Arg334Gly) and c.

A spatiotemporal transcriptomic atlas of mouse placentation.

The placenta, a temporary but essential organ for gestational support, undergoes intricate morphological and functional transformations throughout gestation. However, the spatiotemporal patterns of gene expression underlying placentation remain poorly understood. Utilizing Stereo-seq, we constructed a Mouse Placentation Spatiotemporal Transcriptomic Atlas (MPSTA) spanning from embryonic day (E) 7.

The moderation effect of GSTM1/GSTT1 gene polymorphisms on the association of sperm mitochondrial DNA copy number and sperm mobility.

Oxidative stress (OS) is believed to be a significant factor in the decline of semen quality, with mitochondrial DNA copy number (mtDNAcn) serving as a sensitive biomarker for both semen quality and mitochondrial dysfunction resulting from oxidative stress. While glutathione S-transferases (GSTs) are commonly known as 'antioxidant' enzymes, there is ongoing debate regarding the relationship between GST genotypes and semen quality. In a study involving 568 male volunteers from the outpatient department of Puyang Reproductive Medicine Center, sperm mtDNAcn, semen quality, and GSTM1/GSTT1 genotypes were analyzed to investigate the potential link between GSTM1/GSTT1 gene variations and semen quality, as well as the impact of GSTs gene variations on the connection between sperm mtDNAcn and semen quality.

Taurine is essential for mouse uterine luminal fluid resorption during implantation window via the SCNN1A and AQP8 signaling.

Uterine fluid homeostasis during peri-implantation is crucial for successful embryo implantation. Taurine (Tau) plays a crucial role in regulating osmotic pressure and ion transport. However, the precise mechanisms underlying Tau-mediated regulation of uterine fluid homeostasis during peri-implantation in mice remain unclear.

Advanced paternal age exacerbates neuroinflammation in offspring via m6A modification-mediated intergenerational inheritance.

Background: The trend of postponing childbearing age is prevalent worldwide. Advanced paternal age (APA) is associated with adverse pregnancy outcomes and offspring health. However, the underlying mechanism by which paternal aging affects the risk of offspring neuropsychiatric disorders is unclear.

Association of mixed exposure to microplastics with sperm dysfunction: a multi-site study in China.

Background: Microplastics are environmental pollutants detected in various human organs and tissues. These particles originate from multiple sources including the degradation of larger plastic items and the intentional inclusion in consumer goods. Potential risks for human health resulting from microplastics exposure have also been reported.