Oliver-McFarlane syndrome (OMCS) is a rare autosomal recessive disorder characterized by trichomegaly, severe chorioretinal dystrophy, and multiple pituitary hormone deficiencies. Its marked genetic and clinical heterogeneity presents significant challenges for definitive diagnosis.

This study investigates a rare case of Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome, focusing on prenatal diagnosis, family analysis, and genetic counseling for a pregnant woman with repeated adverse pregnancy outcomes.

In order to explore the genetic background and genetic basis of the parental population of Qinghai spruce ( Kom.) seed orchard, to reduce the cycle of genetic improvement of Qinghai spruce and the scale of germplasm resources, and to enhance the level of genetic improvement of Qinghai spruce. This study utilized the SLAF-seq technology to conduct genetic and evolutionary analysis on 165 germplasms from 11 provenances of Qinghai spruce seed orchards, and developed a total of 1964178 high-consistency single nucleotide polymorphism markers. Phylogenetic analysis classified them into three major groups, while population structure analysis revealed two subgroups. Through the Core Hunter II software, 33 (20%) core germplasms were selected, retaining all genetic diversity. This research provides a scientific basis for the genetic improvement of Qinghai spruce.

The purpose of this retrospective study was to investigate the imaging phenotype and genetic variation of three fetuses with FLT4 gene mutations in three families.

[This corrects the article DOI: 10.3389/fgene.2025.1646032.].

We aimed to explore the mechanisms and pathways of exercise-based interventions in the treatment of polycystic ovarian syndrome (PCOS).

This study aims to identify key genes that are common to both breast cancer and thyroid cancer, as well as to determine shared therapeutic targets relevant to both conditions.

To analyze the distribution characteristics of MTHFR C677T gene polymorphism in Shaanxi Province, thereby providing a genetic basis for folic acid supplementation strategies and the reduction of adverse pregnancy outcomes among reproductive-aged women in this region.

Single-cell sequencing (SCS) techniques have the potential to offer precise insights into cellular diversity by revealing unique genetic and transcriptomic profiles at the single-cell level. This advanced technology has been used extensively in research, but it has still not translated to clinical diagnostics, despite its potential. SCS provides more accurate granular information about heterogeneous cell populations and the creation of personalized treatment strategies. However, the integration of SCS into clinical practice is challenging. This review discusses the potential of SCS technologies in improving clinical molecular diagnostics in various clinical areas including oncology, genetics and rare diseases, infectious diseases, and autoimmune disorders and inflammation. We review recent advances, current uses, integration challenges, and their contribution to the development of these fields. SCS provides significant opportunities in oncology to analyze tumor heterogeneity and develop personalized treatments. In autoimmune and rare diseases, SCS has helped to define novel biomarkers and understand complex immune pathways. SCS has also been used to understand pathogen diversity and host-pathogen interactions in the context of infectious diseases, leading to targeted therapeutic approaches. Despite this progress, there remain challenges in data analysis, standardization, and routine clinical application. The future of SCS in clinical molecular diagnostics is promising. Further technological and research developments in SCS are expected to increase the precision and personalization of medical diagnostics and treatment. To overcome current limitations, interdisciplinary cooperation and innovative approaches to data analysis are needed.

Despite advancements in targeted therapies, the prognosis for clear cell renal cell carcinoma (ccRCC) remains poor, particularly for metastatic cases. PANoptosis, a newly discovered programmed cell death pathway involving crosstalk among pyroptosis, apoptosis, and necroptosis, has an undefined role in ccRCC pathogenesis and prognosis, representing a critical knowledge gap.

The polymorphisms in fat mass and obesity-associated gene () have been implicated in metabolic dysregulation. This study aimed to investigate the associations between the rs9939609 and rs17817449 polymorphisms and MetS risk, and to assess whether glucolipid parameters mediate these associations.

Bladder cancer (BLCA) is a common malignant tumor of the urinary system. The development and progression of BLCA are controlled by multiple regulatory molecules, which have not been widely investigated.

Obstructive sleep apnea (OSA) and major depressive disorder (MDD) impose substantial quality-of-life burdens and socioeconomic costs. Growing evidence indicates bidirectional disease interactions that exacerbate clinical outcomes. This study identifies diagnostic biomarkers and explores therapeutic targets underlying OSA-MDD comorbidity.

Infertility affects approximately one in six individuals globally and represents a complex public health concern influenced by a range of biological, environmental, and socioeconomic factors. fertilization (IVF) has emerged as a pivotal assisted reproductive technology (ART), yet its success is often hindered by recurrent implantation failure (RIF) and hypertensive complications such as preeclampsia (PE). Recent research highlights the critical role of the immune system particularly non-classical Human Leukocyte Antigen (HLA) class I molecules (HLA-G, HLA-E, HLA-F) and MHC class I chain-related proteins (MICA/B) in modulating maternal-fetal tolerance and determining IVF outcomes. This review synthesizes emerging evidence on the structure, expression, receptor interactions, and polymorphisms of these molecules, emphasizing their roles in embryo implantation, immune modulation, and pregnancy maintenance. Soluble HLA-G (sHLA-G) has shown promise as a biomarker for embryo viability, while variations in KIR-HLA interactions and polymorphisms in non-classical HLA genes have been linked to RIF and adverse reproductive outcomes. Despite promising findings, routine clinical testing of these markers remains limited due to methodological inconsistencies, lack of large-scale validation, and the multifactorial nature of implantation. Future research priorities include functional genomics, standardized diagnostic assays, AI-driven predictive tools, and translational trials of immunomodulatory therapies. Understanding the immunogenetic landscape offers new avenues for personalized reproductive care and improved IVF success rates.

Heat stress is among the most significant welfare challenges facing modern swine production systems worldwide. Pigs are particularly susceptible to heat stress due to their inactive sudoriferous glands, which limits their capacity for evaporative cooling. As a result, they rely predominantly on behavioral strategies for thermoregulation. This behavioral dependence underscores the potential value of integrating behavioral assessments with genetic analyses to identify heritable components of climatic resilience. In this context, the main objectives of this study were as follows: 1) to develop an ethogram to evaluate the response of lactating sows to a novel event (i.e., hair shaving); 2) to derive the traits' responsiveness score (RS), vocalization score (VS), and shave time (ST) from the ethogram, and identify key systematic effects influencing these behavioral responses of lactating sows under heat-stress conditions; 3) to estimate variance components for all the derived traits; 4) to assess genetic correlations between the behavioral traits and both direct indicators of heat tolerance and maternal ability traits; and 5) to perform genome-wide association studies (GWAS) to identify genomic regions associated with sow behavioral traits. RS, VS, and ST were found to be heritable with heritability estimates of 0.17 ± 0.05, 0.15 ± 0.05, and 0.10 ± 0.05, respectively. These traits had null-to-low genetic correlations with maternal performance and low-to-moderate genetic correlations with direct indicators of heat tolerance. Twelve genomic markers were found to be significantly associated with the three behavioral traits, including regions overlapping with genes known to influence heat stress response, such as and . In conclusion, sow behavioral responses to a novel event under heat-stress conditions are heritable and highly polygenic but uncorrelated or lowly correlated with climatic resilience and maternal traits.

Hereditary spherocytosis (HS) is an inherited disorder characterized by spherical erythrocytes and abnormalities of several erythrocyte membrane proteins with extreme genotypic and phenotypic heterogeneity. HS patients were clinically diagnosed by the presence of spherical erythrocytes on the peripheral blood smear, hemolytic anemia, jaundice, and splenomegaly, with or without cholelithiasis or gallstones. To date, mutations of five genes (, , and ) have been reported to be associated with different subtypes of HS. Germline mutations of the gene cause autosomal dominant HS (Spherocytosis 2, SPH2), the rarest subtype of HS.

[This corrects the article DOI: 10.3389/fgene.2025.1626083.].

Psoriasis is a chronic immune-mediated skin disorder characterized by excessive keratinocyte proliferation and localized inflammation. A comprehensive understanding of its molecular mechanisms is crucial for improving disease management and developing targeted therapies.

Coronary heart disease (CHD) and type 2 diabetes (T2D) represent a significant global comorbidity burden, with shared yet incompletely understood molecular mechanisms. This study aimed to identify shared diagnostic biomarkers and elucidate core pathways linking CHD and T2D pathogenesis.

Rubinstein-Taybi syndrome type 2 (RSTS2; OMIM #613684) is a rare autosomal dominant disorder caused by loss-of-function variants in the gene (OMIM #602700), characterized by intellectual disability, distinctive craniofacial features, and skeletal anomalies.