Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome [0.03%]
全外显子组测序揭示新的遗传学系带脊髓综合征见解
Shuang Liu,Benzhang Tao,Gan Gao et al.
Shuang Liu et al.
Tethered cord syndrome (TCS) is a neurodevelopmental disorder associated with neural tube defects (NTD), yet its genetic underpinnings remain poorly characterized. To elucidate its molecular basis, we conducted whole-exome sequencing (WES) ...
Pan-SSR architecture in Acrossocheilus fasciatus links cross-assembly repeat conservation, repeat-unit count variation, and genomic context [0.03%]
花鱼全基因组串联重复序列的组成、单元数目变异和基因组背景分析
Kai Liu,Nan Xie
Kai Liu
Microsatellites, or simple sequence repeats (SSRs), are abundant genomic features, but their evolutionary interpretation is often limited by detector-dependent discovery and single-reference surveys that count repeats without resolving homo...
Recurrent PIK3CA-E545K mutation promotes cervical cancer growth and invasion via AKT/mTOR signaling [0.03%]
PIK3CA-E545K recurrent突变通过AKT/mTOR信号促进宫颈癌的生长和侵袭
Congxiu Huang,Wei Zhang,Xiaoyu Ma et al.
Congxiu Huang et al.
Cervical cancer remains a leading cause of cancer-related morbidity and mortality among women worldwide. Although genomic alterations in oncogenic signaling pathways have been implicated in cervical carcinogenesis, the functional impact of ...
Lactate derived from CAFs mediates H3K18la in stemness gene promoters, which promotes tumor malignant phenotype formation [0.03%]
来源于CAF的乳酸介导H3K18la在干性基因启动子上促进肿瘤恶性表型形成
Jie Yao,Guangbin Li,Ke Chen et al.
Jie Yao et al.
Non-small cell lung cancer (NSCLC) is the most common subtype of lung cancer, characterized by high invasiveness, poor prognosis, and limited therapeutic options. Cancer-associated fibroblasts (CAFs), as a core component of the tumor microe...
Cross-population proteome-wide mendelian randomization study identifies likely causal proteins for cardiovascular diseases [0.03%]
横跨人群的蛋白质组范围内的孟德尔随机化研究确定了心血管疾病的可能原因蛋白
Hua Zhong,Jingjing Zhu,Shuai Liu et al.
Hua Zhong et al.
Blood proteins may play causal roles in cardiovascular diseases (CVDs) such as heart failure (HF) and peripheral artery disease (PAD). Proteome-wide Mendelian randomization (MR) has been widely used to prioritize drug targets for CVD in Eur...
Detection of the NPHP4 c.2999_3005del (p.Asn1000SerfsTer4) variant in an Iranian family with nephronophthisis-4 [0.03%]
检测NPHP4 c.2999_3005del (p.Asn1000SerfsTer4)变异在一名患有第4型纤细症的伊朗家族中的应用
Motahareh Jadidi,Shima Booali,Kolsoum InanlooRahatloo
Motahareh Jadidi
Nephronophthisis type 4 (NPHP4) is a rare genetic kidney disorder progressing to end-stage renal disease (ESRD). In this study, we aimed to identify the genetic cause of NPHP4 in a pedigree with three affected individuals. Whole-exome seque...
RMRP mediates neuroprotection as a downstream effector of RBM3 in human neuroblastoma SH-SY5Y cells [0.03%]
RBM3下游调控蛋白RMRP介导的人神经母细胞瘤SH-SY5Y细胞的神经保护作用
Shuangping Ma,Xianting Liu,Yiming Xie et al.
Shuangping Ma et al.
As a non-coding RNA (lncRNA), the RNA component of mitochondrial RNA processing endoribonuclease (RMRP) is implicated in ribosome biogenesis. In recent years, its role in the neurodegenerative system has been reported; however, the molecula...
High-coverage paleo-genome research identifies a pathogenic mutation on EXT1 in a Qing-period Chinese individual with multiple osteochondromas [0.03%]
高覆盖率古基因组研究鉴定出一名清代多发性软骨外生灶患者EXT1致病突变
Bangyan Wang,Haodong Chen,Fanhao Xi et al.
Bangyan Wang et al.
Multiple osteochondromas (MO) is a rare bone disease with variable manifestations that make it difficult to distinguish from phenotypically similar diseases, both morphologically and radiologically. As a monogenic disorder associated with m...
Long non-coding RNA LOXL1 antisense RNA 1 promotes the malignancy of non-small cell lung cancer cells via modulating the microRNA-122-5p/E2F transcription factor 3 axis [0.03%]
长非编码RNA LOXL1反义RNA通过调节microRNA-122-5p/E2F转录因子3轴促进非小细胞肺癌恶性进展
Zhijian Wang,Zhenkui Zhang,Liqiang Zhao et al.
Zhijian Wang et al.
Long non-coding RNA (lncRNA) antisense RNA 1 (LOXL1-AS1), reportedly, exerts carcinogenic effects in cancers including non-small cell lung cancer (NSCLC) via competitive endogenous RNA (ceRNA) mechanism. Additionally, previous studies have ...
Association of TRPV3 gene polymorphisms with wool production traits in Zhexi Angora rabbits [0.03%]
TRPV3基因多态性与浙西长毛兔产毛性状的关联分析
Rongrong Li,Bohao Zhao,Ning Shen et al.
Rongrong Li et al.
Hair yield is the main economic value of Zhexi Angora rabbit, and it is an important index to measure its productive traits. The TRPV3 gene has been found to be associated with wool yield. This study aims to investigate the correlation betw...