A homozygous loss-of-function mutation in CEP250 is associated with acephalic spermatozoa syndrome in humans.

Background: The presence of predominantly headless sperm in semen is a hallmark of acephalic spermatozoa syndrome, which is primarily caused by gene mutations in humans.

Purpose: To identify genetic causes for acephalic spermatozoa syndrome.

Methods: Polymerase chain reaction and Sanger sequencing were performed to define mutations in SUN5 and PMFBP1.

A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation.

During meiosis, at least one crossover must occur per homologous chromosome pair to ensure normal progression of meiotic division and accurate chromosome segregation. However, the mechanism of crossover formation is not fully understood. Here, we report a novel recombination protein, C12ORF40/REDIC1, essential for meiotic crossover formation in mammals.

Three-Dimensional Fe Single-Atom Catalyst for High-Performance Cathode of Zn-Air Batteries.

Designing cost-effective and highly active oxygen reduction reaction (ORR) catalysts is critical for the development of Zn-air batteries (ZABs). Iron-nitrogen-carbon (Fe-N-C) catalysts with single-atom Fe-N active sites are considered as one of the most promising alternatives to noble Pt but are hindered by unsatisfactory activity and durability. Herein, a NaCl template-assisted pyrolysis technique is utilized to massively fabricate Fe-N-C single-atom catalysts (SACs) anchored on the three-dimensional open-pore carbon networks (denoted as 3D SAFe).

A nomogram model based on MRI and radiomic features developed and validated for the evaluation of lymph node metastasis in patients with rectal cancer.

Purpose: The aim of this study was to develop and validate a nomogram model to evaluate lymph node metastasis (LNM) in patients with rectal cancer (RC).

Methods: A total of 162 patients with RC were included in the study. The MRI reported model, the Radscore model, and the Complex model were constructed using the logistics regression (LR) algorithm.

A clinical study on relationship between visualization of cardiac fibroblast activation protein activity by AlF-NOTA-FAPI-04 positron emission tomography and cardiovascular disease.

Objective: FAP plays a vital role in myocardial injury and fibrosis. Although initially used to study imaging of primary and metastatic tumors, the use of FAPI tracers has recently been studied in cardiac remodeling after myocardial infarction. The study aimed to investigate the application of FAPI PET/CT imaging in human myocardial fibrosis and its relationship with clinical factors.

The Machine Learning Model for Distinguishing Pathological Subtypes of Non-Small Cell Lung Cancer.

Purpose: Machine learning models were developed and validated to identify lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC) using clinical factors, laboratory metrics, and 2-deoxy-2[F]fluoro-D-glucose ([F]F-FDG) positron emission tomography (PET)/computed tomography (CT) radiomic features.

Methods: One hundred and twenty non-small cell lung cancer (NSCLC) patients (62 LUAD and 58 LUSC) were analyzed retrospectively and randomized into a training group (n = 85) and validation group (n = 35). A total of 99 feature parameters-four clinical factors, four laboratory indicators, and 91 [F]F-FDG PET/CT radiomic features-were used for data analysis and model construction.

Preliminary evaluation of a small interfering RNA molecular probe targeting murine double minute 2 in breast cancer.

Introduction: Murine double minute 2 (MDM2) is an oncogene that is important in tumorigenesis, tumor metastasis and chemotherapy resistance. We aimed to synthesize a molecular imaging probe, 99m Tc-HYNIC-siRNA 1489, which could specifically bind to MDM2. The [ 99m Tc]HYNIC-siRNA 1489 molecular probe provided an effective way of assessing MDM2 expression via single-photon emission computed tomography.

Molecular imaging and treatment of PSMA-positive prostate cancer with Tc radiolabeled aptamer-siRNA chimeras.

Introduction: Prostate-specific membrane antigen (PSMA) is highly expressed in prostate cancer (PCa). The aptamer (Apt) A10-3.2 can be used as a specific ligand for the early diagnosis and targeted treatment of PCa.

Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.

Study Question: Can whole-exome sequencing (WES) reveal pathogenic mutations in two consanguineous Pakistani families with infertile patients?

Summary Answer: A homozygous spermatogenesis associated 22 (SPATA22) frameshift mutation (c.203del), which disrupts the interaction with meiosis specific with OB-fold (MEIOB), and a MEIOB splicing mutation (c.683-1G>A) that led to loss of MEIOB protein cause familial infertility.

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.

Human infertility is a multifactorial disease that affects 8%-12% of reproductive-aged couples worldwide. However, the genetic causes of human infertility are still poorly understood. Synaptonemal complex (SC) is a conserved tripartite structure that holds homologous chromosomes together and plays an indispensable role in the meiotic progression.

LncRNA GAS5 sponges miR-362-5p to promote sensitivity of thyroid cancer cells to I by upregulating SMG1.

This study aims to investigate the role of lncRNA growth arrest-specific transcript 5 (GAS5)/miR-362-5p/suppressor of morphogenesis in the genitalia 1 (SMG1) axis in I-resistance in thyroid cancer (TC). GAS5, miR-362-5p, and SMG1 expression in TC tissues was assessed and the I-resistant TC cells were established, which were treated with altered GAS5, miR-362-5p, and SMG1. The proliferation and apoptosis of I-resistant TC cells were detected, and the expression of Akt/mTOR signaling pathway-related proteins was assessed.

-dependent programmed Sertoli cell proliferation is indispensable for testis cord development and germ cell mitotic arrest.

As the major somatic cell type, Sertoli cells undergo active proliferation and play essential roles to establish testis cord at fetal stage. They also function to maintain germ cell development throughout the life of testicular development. However, the significance of Sertoli cell number for testis cord development and gonocyte fate is still unclear.

Reprogramming of Meiotic Chromatin Architecture during Spermatogenesis.

Chromatin organization undergoes drastic reconfiguration during gametogenesis. However, the molecular reprogramming of three-dimensional chromatin structure in this process remains poorly understood for mammals, including primates. Here, we examined three-dimensional chromatin architecture during spermatogenesis in rhesus monkey using low-input Hi-C.