First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish RPGR Pedigree with X-Linked Retinitis Pigmentosa [0.03%]
遗传性视网膜变性在X连锁色素性视网膜炎的爱尔兰RPGR系谱中检测到首个外显子隐秘分支位点变异
Ella Kopčić,Laura Whelan,Ciara Shortall et al.
Ella Kopčić et al.
Objectives: This study investigated a variant, RPGR NM_001034853.2 c.1307G>A, p.[Gly436Asp, p?], in a large Irish pedigree with severe X-Linked Retinitis Pigmentosa (XLRP). The effect of the variant on RNA splicing was in...
Non-Coding RNAs as Emerging Biomarkers in HPV-Associated Cervical Precancer and Cancer: Molecular Mechanisms and Clinical Perspectives [0.03%]
人乳头瘤病毒相关宫颈癌前病变和癌症中非编码RNA新兴生物标志物：分子机制与临床应用视角
Matteo Terrinoni,Valerio Caputo,Michele Palisciano et al.
Matteo Terrinoni et al.
Background/Objectives: Cervical cancer is mainly driven by persistent infection with high-risk human papillomaviruses (HPV), particularly HPV16 and HPV18. Despite advances in cytology, HPV-DNA testing and vaccination, challenges remain in t...
Neuropsychiatric Phenotype in a Patient with Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy (NEDEGE) [0.03%]
神经发育障碍伴或不伴有早期发作的全面性癫痫(NEDGE)患者的神经精神表型特征
Dominika Szczęśniak,Anna Wilczek,Magdalena Mroczek
Dominika Szczęśniak
We report the oldest female identified to date with a pathogenic NBEA variant who has been followed longitudinally. She presented with a complex, diagnostically inconclusive psychiatric phenotype extending in adulthood and a suspected mild ...
Case Reports
Genes. 2026 Jun 21;17(6):713. DOI:10.3390/genes17060713 2026
Genome-Wide Identification and Expression Profiling of the Di19 Gene Family in Sweet Potato and Its Two Diploid Relatives [0.03%]
甘薯及其两个二倍体近缘植物染色体上Di19基因家族的鉴定与表达分析
Zitong Yang,Jiaquan Pan,Sitong Liu et al.
Zitong Yang et al.
Background: Di19 (drought-induced 19)proteins belong to the C2H2-type zinc-finger family and play a crucial role in regulating plant growth, developmental processes, hormone signal transduction, and abiotic stress adaptation. However, resea...
VEXAS Syndrome Beyond UBA1: Genetic Architecture and the Role of Co-Occurring Somatic Mutations-A Focused Review [0.03%]
UBA1基因以外的VEXAS综合征：遗传结构和共存体细胞突变的作用-专题评论
Konstantin N Konstantinov,Nikifor K Konstantinov,Vijayalakshmi Kumar
Konstantin N Konstantinov
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset inflammatory disorder caused by acquired mutations in UBA1, the gene encoding the primary ubiquitin-activating enzyme. The recognition of VEXAS has ...
Genetic Association and Clinical Relevance of TNFSF13B/BAFF and PADI4 Polymorphisms in ANCA-Associated Vasculitis: A Case-Control Study with Genetic Model Analysis in Guangxi Population [0.03%]
广西人群血管炎相关性抗中性粒细胞胞浆抗体遗传关联及基因模型分析：TNFSF13B/BAFF和PADI4多态性的病例对照研究
Jiafu Lu,Simei Huang,Shuwen Wei et al.
Jiafu Lu et al.
Objective:TNFSF13B, which encodes B-cell-activating factor (BAFF) and peptidylarginine deiminase 4 (PADI4), plays crucial roles in the pathogenesis of ANCA-associated vasculitis (AAV). This study investigated the associations of single-nucl...
Association of Ascending Aortic Aneurysm with NOX4 and miRNA 146a [0.03%]
NOX4和microRNA 146a与升主动脉瘤的关系研究
Recep Çalışkan,Osman Eren Karpuzoğlu,Fatma Hande Karpuzoğlu et al.
Recep Çalışkan et al.
Objective: To evaluate the efficacy of NADPH oxidase 4 and miR-146a-5p in current treatment planning for ascending aortic aneurysms, independent of aortic diameter, and to develop protocols that will ensure the treatment of ascending aortic...
A Novel LAS1L Gene Mutation Associated with Impaired Growth and Developmental Delay and a Review with Previously Reported Cases [0.03%]
一种新的LAS1L基因突变与生长发育迟缓有关及对先前报道的病例回顾性分析
Niusha Mostafavi,Anran Tian,Yuan Gao et al.
Niusha Mostafavi et al.
Wilson-Turner syndrome (WTS) is an X-linked developmental disorder associated with variants in the LAS1L gene, which plays a role in ribosome biogenesis. We report a 6-year-and-5-month-old boy presenting with growth retardation, early devel...
OBP-Mediated Molecular Mechanism Underlying the Olfactory Repellent Effect of Mosla chinensis Essential Oil Against Culex quinquefasciatus [0.03%]
荆芥油通过OBP介导的分子机制驱避库蚊的机理研究
Jinfeng Xiong,Rui Ma,Ya Wu et al.
Jinfeng Xiong et al.
Background/objectives: Mosquitoes, including Culex quinquefasciatus and Aedes aegypti, are important vectors of dengue fever, Zika virus, West Nile virus, Japanese encephalitis virus, Eastern equine encephalitis virus, et...
Genome-Wide Identification and Characterization of NAC Transcription Factors in Avocado (Persea americana): Expression Analysis During Fruit Development [0.03%]
牛油果(NAC转录因子的全基因组鉴定和特征分析：果实发育过程中的表达分析
Zhijiao Song,Chengxian Wang,Mingliang Zhang et al.
Zhijiao Song et al.
Background: The NAC family constitutes one of the largest families of plant-specific transcription factors and plays crucial roles in fruit development, ripening, seed life, and stress responses. However, comprehensive characterization of N...