Anyou Wang
Anyou Wang
The mechanisms underlying the evolution of lifespan across organisms remain mysterious. This study computes multiple large datasets and reveals that noncoding RNAs (ncRNAs), rather than proteins, drive animal lifespan evolution. Species in ...
Exploring molecular mechanisms of drug resistance in bacteria and progressions in CRISPR/Cas9-based genome expurgation solutions [0.03%]
探索细菌的药物抗性分子机制及CRISPR/Cas9基因编辑技术的进展
K E Vivekanandan,P Vinoth Kumar,R C Jaysree et al.
K E Vivekanandan et al.
Antibiotic resistance in bacteria is a critical global health challenge, driven by molecular mechanisms such as genetic mutations, efflux pumps, enzymatic degradation of antibiotics, target site modifications, and biofilm formation. Horizon...
PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance [0.03%]
PROKR2突变和SPRY4基因意义未明的变异在一个科尔曼综合症家族中的研究：不完全贯穿困境
Yuanfan Yuan,Qianqian Huang,Jiehan Zhang et al.
Yuanfan Yuan et al.
Kallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype. Herein, we reported a 32-year-old male ...
Role of agonistic autoantibodies to the angiotensin II type 1 receptor (AT1-AA) in pathogenesis of preeclampsia [0.03%]
血管紧张素II受体自身抗体(AT1-AA)在子痫前期发病机制中的作用研究
Jing Wang,Lijuan Shan,Yanhui Zhao et al.
Jing Wang et al.
Preeclampsia(PE) is the most prevalent complication during pregnancy and constitutes a significant cause of morbidity and mortality among pregnant women and their fetuses. Recent studies have demonstrated elevated levels of angiotensin II t...
Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum [0.03%]
戊酸尿症I型所致的急性髓鞘神经病：表型谱系的扩展
Dipti Baskar,Rita Christopher,Gautham Arunachal et al.
Dipti Baskar et al.
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-onset GA-1 with acute myelo-neuropathy and chronic renal failure. Instituti...
Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES [0.03%]
解锁杜氏肌营养不良的遗传蓝图：使用MLPA和WES的个性化方法
Priyanshu Mathur,Ashmeet Kaur,Kamlesh Kumar Agarwal et al.
Priyanshu Mathur et al.
Background: Duchenne muscular dystrophy (DMD) is a progressive X-linked disorder causing muscle degeneration and multisystem involvement, requiring precise genetic diagnosis for timely intervention and treatment. ...
Min Zhao,Minting Lin,Zhibo Zhang et al.
Min Zhao et al.
Circular RNAs (circRNAs) are a newly discovered class of endogenous non-coding RNAs with a closed-loop structures, and they exert crucial regulatory functions in diverse biological processes and disease development through the modulation of...
Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report [0.03%]
GLI3和TBX5突变相关的多指症及并指症的儿科病例报告
R Leonardi,G Pellino,E Floridia et al.
R Leonardi et al.
Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentat...
A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome [0.03%]
罕见病例：I型神经纤维瘤病与克莱恩费尔特综合征并存
Haniyeh Rahbar Kafshboran,Neşe Akcan,Doğa Ceren Polat et al.
Haniyeh Rahbar Kafshboran et al.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a heterogeneous group of symptoms, including characteristic cafe-au-lait macules, axillary or inguinal freckling, Lisch nodules, as well as skeletal deformation, scoliosi...
Cytochrome P450 3A gene family and medication in childhood nephrotic syndrome: An update [0.03%]
儿童肾病综合征的细胞色素P450 3A基因家族和药物治疗：最新研究进展
Praveenkumar Kochuthakidiyel Suresh,Yogalakshmi Venkatachalapathy,Sudha Ekambaram et al.
Praveenkumar Kochuthakidiyel Suresh et al.
Background: Nephrotic syndrome (NS) is a renal disease characterized by excessive proteinuria (greater than 3.5 g/dl per 24 h), which results in hypoalbuminemia and leads to hyperlipidemia, edema, and various complication...