Clinical and Genetic Characterization of Esophageal Atresia: A Contemporary Cohort Integrating Phenotyping and Genomic Testing [0.03%]
食管闭锁的临床和基因特征：整合表型和基因组检测的当代队列研究
Purificacion Marin-Reina,Irene Reig Talamante,Anna Parra Llorca et al.
Purificacion Marin-Reina et al.
Background: Esophageal atresia (EA) is a complex congenital anomaly frequently associated with additional malformations and genetic conditions. Despite advances in prenatal imaging and genomic technologies, establishing an etiologic diagnos...
The Microbiome-Mitochondria-Extracellular Vesicle Axis in HPV Persistence and Cervical Carcinogenesis [0.03%]
人乳头瘤病毒持续感染和宫颈癌变中的微生物组-线粒体-细胞外囊泡轴
Efthalia Moustakli,Stylianos Makrydimas,Emmanouil D Oikonomou et al.
Efthalia Moustakli et al.
Persistence of human papillomavirus (HPV) infection leading to cervical carcinogenesis can be attributed to the action of high-risk HPVs, but there are still some unclear factors involved in the mechanisms of either viral clearance or persi...
Molecular Evidence for the Parallel Evolution of Anosmia in Multiple Odontoceti (Toothed Whales) Clades [0.03%]
分子证据表明多种齿鲸科中失嗅症的并行演化
Mark S Springer,Michael R McGowen,John Gatesy
Mark S Springer
Background/Objectives. Living odontocetes are the only extant mammals that lack anatomical features associated with olfaction. A leading hypothesis for the presumed complete loss of smell (i.e., anosmia) in odontocetes is that olfaction was...
Transcription Start Site Choice Regulates m6A Stoichiometry in Cap-Proximal Regions [0.03%]
转录起始位点选择调控顶帽子邻近区域m6A修饰的摩尔比例
Jianheng Fox Liu,Samie R Jaffrey
Jianheng Fox Liu
Background/Objectives:N6-methyladenosine (m6A) is the most prevalent and functionally significant internal modification within eukaryotic mRNA. While m6A is known to be regulated at internal sites by factors such as splice junctions, the me...
The Role of AKR1B1 in Diabetic Nephropathy: A Genetic Association Study and Meta-Analysis [0.03%]
醛酮还原酶1B1在糖尿病肾病中的作用：遗传关联研究和荟萃分析
Maria Tziastoudi,Christos Cholevas,Efthimios Dardiotis et al.
Maria Tziastoudi et al.
Background: Diabetic nephropathy (DN) is a major microvascular complication of diabetes mellitus with a strong genetic component. The aldo-keto reductase family 1 member B (AKR1B1) gene has been implicated in hyperglycemi...
Isolation and Genome Characterization of Escherichia Phage vB_EcoA-Sparklingdew [0.03%]
斯氏Escherichia噬菌体vB_EcoA_Sparklingdew的分离及基因组特征分析
Ivan M Pchelin,Vladimir M Shutov,T N Suong Nguyen et al.
Ivan M Pchelin et al.
Background: Escherichia coli remains a critical multidrug-resistant nosocomial pathogen, driving interest in bacteriophage-based biocontrol. The genus Kayfunavirus (family Autotranscriptaviridae) exhibits obligately lytic...
Shared Genetic Architectures and Causal Associations Between Diabetic Retinopathy Progression and Frailty-Related Phenotypes [0.03%]
糖尿病视网膜病变进展与脆弱相关表型的共享遗传结构和因果关系
Renxin Luo,Xiaotong Yu,Chen Huang et al.
Renxin Luo et al.
Background/Objectives: Observational studies have reported comorbidity between diabetic retinopathy (DR) and physical frailty, but their genetic interplay remains incompletely understood. This study evaluated shared genetic architecture and...
Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [0.03%]
ACADVL变异谱的扩展：极长链酰基辅酶A脱氢酶缺乏症中综合表征p.Ser72Phe变异
Francesca Dinatolo,Lucia D&#x;Antona,Radha Procopio et al.
Francesca Dinatolo et al.
Background/objectives: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disorder of mitochondrial fatty acid β-oxidation caused by pathogenic variants in ACADVL. The clinical spectrum ...
Case Reports
Genes. 2026 May 31;17(6):649. DOI:10.3390/genes17060649 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases [0.03%]
罕见单基因疾病的多模态测序和再分析方法结束诊断历程
Catherine A Brownstein,Jill A Madden,Wanqing Shao et al.
Catherine A Brownstein et al.
Background/objectives: Genomic testing has transformed rare-disease diagnostics, yet a substantial proportion of individuals remain without a molecular diagnosis even after short-read exome sequencing (SR-ES) or short-rea...
Cancer Genetic Predisposition and Clinical Applications-A Narrative Review on Germline Genetic Testing, High-Risk Cancer Surveillance and Management [0.03%]
癌症遗传易感性和临床应用-关于遗传性基因检测、高危癌种的筛查和管理的综述性评论文章
Xia Wang
Xia Wang
Understanding germline genetic variation is essential for improving human cancer care. Cancer predisposition genetic testing has become a part of the landscape of healthcare. Clinical guidelines have been established to identify individuals...