CNNKSCEC: a deep learning-based framework for chromatin loop prediction with multi-source feature integration [0.03%]
基于深度学习的多模态特征整合染色质环预测框架CNNKSCEC
Junfeng Wang,Bingzi Zheng,Lili Wu et al.
Junfeng Wang et al.
Motivation: Chromatin in the cell nucleus adopts a complex three-dimensional (3D) structure shaped by folding and interactions, with chromatin loops serving as fundamental organizational units. Accurate loop prediction is...
Precision obesity medicine: a translational perspective on epigenetics, the gut microbiome, and AI-assisted multi-omics integration [0.03%]
精准肥胖医学：表观遗传学、肠道微生物组和人工智能辅助多组学整合的转化视角
Ammar A Jairoun,Sabaa S Al-Hemyari,Moyad Shahwan et al.
Ammar A Jairoun et al.
Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis [0.03%]
NTRK1深处内含子变异与先天性无痛无汗症相关
Xin Chen,Shuang Li,Zhe Liu et al.
Xin Chen et al.
Objectives: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder caused by mutations in NTRK1 that is characterized by pain insensitivity, anhidrosis, and recurrent fever. While g...
S100A9 as a shared biomarker and mediator of metabolic dysfunction in peripheral artery disease and sarcopenia [0.03%]
S100A9作为外周动脉疾病和肌少症中代谢功能障碍的共享生物标志物和介导因素
Yaming Guo,Wenxin Zhao,Hai Feng et al.
Yaming Guo et al.
Backgrounds: Peripheral artery disease (PAD) frequently causes to persistent functional impairment in skeletal muscle even after successful revascularization, implicating non-ischemic pathological mechanisms. Sarcopenia, ...
Clinical and neuropsychological profile of Alzheimer's disease in Tunisia and the impact of APOE gene [0.03%]
突尼斯阿尔茨海默病的临床和神经心理学特征以及APOE基因的影响
Alya Gharbi,Ikram Sghaier,Mohamed El Habibi et al.
Alya Gharbi et al.
Introduction: Alzheimer's disease (AD), the leading cause of major neurocognitive disorder (MNCD) worldwide and in Tunisia, is strongly associated with Apolipoprotein E (APOE). In the present study our aims are to charact...
Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China [0.03%]
病例报告：SPG20基因新型纯合致病突变导致中国人群Troyer综合征
Lina Zhu,Siqi Hu,Xinyang Jiang et al.
Lina Zhu et al.
Hereditary spastic paraplegia (HSP) comprises a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Troyer syndrome (MIM #275900), an autosomal recessive form of complicated HSP, was initially de...
Disease-predominant loci across Alzheimer's disease, Parkinson's disease and Lewy body dementia: evidence from the UK Biobank prospective cohort, conditional GWAS and colocalization [0.03%]
基于UK Biobank前瞻性队列、条件GWAS和共定位的证据揭示阿尔茨海默病、帕金森病和路易体痴呆的疾病主导位点
Ying Zhang,Zhishuai Zhang,Shizheng Qiu et al.
Ying Zhang et al.
Background: Alzheimer's disease (AD), Parkinson's disease (PD) and Lewy body dementia (LBD) overlap clinically, pathologically and genetically, complicating interpretation of cross-disorder genome-wide association study (...
Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita [0.03%]
疑似父母生殖细胞/体细胞嵌合导致两个患有先天性角化不良症姐妹携带TINF2基因突变
Tao Xie,Hanying Nong,Jiali Jiang et al.
Tao Xie et al.
Background: Dyskeratosis congenita (DC; OMIM: 127550) is a rare inherited bone marrow failure syndrome. TINF2 mutations are the second most common genetic cause of DC, and most cases arise from de novo mutations. Although...
Integrative serum metabolite prioritization and functional screening identify N-acetyl-L-glutamine as a protective candidate in premature ovarian insufficiency [0.03%]
整合血清代谢物优先排序和功能筛选鉴定N-乙酰-L-谷氨酰胺可保护早发性卵巢功能不全患者
Xinyue Zhang,Chen Chen,Xiaolan Zhu
Xinyue Zhang
Background: Premature ovarian insufficiency (POI) is a major cause of female infertility and is increasingly associated with systemic metabolic dysregulation. However, whether circulating metabolic alterations contribute ...
Application of acute myocardial infarction-related key genes in noninvasive diagnosis: a comprehensive analysis based on transcriptome and single-cell transcriptome [0.03%]
急性心肌梗死相关关键基因的非侵入性诊断应用：基于转录组和单细胞转录组的综合分析研究
Mingbin Xie,Yuanhong Wu,Xinyao Jin et al.
Mingbin Xie et al.
Background: Acute myocardial infarction (AMI), a highly fatal cardiovascular emergency, presents ongoing clinical challenges in both early diagnosis and the elucidation of its associated immuno-inflammatory processes. By ...