Results 281 to 290 of about 1,163,092 (332)

Retinitis Pigmentosa‐Associated Gene TRIM49 Regulates ULK1‐Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium

Advanced Science, EarlyView.
Based on next‐generation sequencing data of retinitis pigmentosa (RP) patients and controls, this study identifies TRIM49 as a novel gene for autosomal recessive RP. TRIM49 is specifically expressed in the retinal pigment epithelium (RPE) of human retina.
Zhen Yi, Chaojuan Wen, Han Du, Yingwei Wang, Shuowei Chen, Jie Liu, Shuhan Zhang, Junwen Wang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Yi Jiang, Jiamin Ouyang, Panfeng Wang, James Fielding Hejtmancik, Wenmin Sun, Huangxuan Shen, Qingjiong Zhang   +17 more
wiley   +1 more source

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation. [PDF]

Cells
Chen G, Rodriguez-Lopez A, Wangsa D, Lomash RM, Huang X, Chen CZ, Bowling RA, Ghousifam N, Banks CJ, Hurd KA, Zou J, Zheng W.   +11 more
europepmc   +1 more source

RPS27L Enhances Myogenesis and Muscle Mass by Targeting IGF1 Through Liquid‐Liquid Phase Separation

Advanced Science, EarlyView.
Muscle‐specific RPS27L knock‐in mice exhibit increased body weight, muscle mass, and enhanced muscle regenerative capacity. RPS27L drives myogenesis by promoting myoblast proliferation, while inhibiting myogenic differentiation. Mechanistically, RPS27L targets IGF1 protein by liquid‐liquid phase separation through its N‐terminal intrinsically ...
Xiaoqin Liu, Yilong Yao, Junyu Yan, Mu Zeng, Xinhao Fan, Yijie Tang, Jiju Li, Yanwen Liu, Shanying Yan, Wei Wang, Lijuan Chen, Ruipu Chen, Yuxin Huang, Honor Calnan, Heng Wang, Graham Gardner, Yalan Yang, Zhonglin Tang   +17 more
wiley   +1 more source

The role of genetic polymorphisms on drug response in Alzheimer's disease: a systematic review. [PDF]

BMC Med Genomics
Climacosa FMM, Ornos EDB, Gapaz NCLL, Guantia MGR, Cruz JMC, Manalo RVM, Yu ML, Qureshi AP, Carampel AC, Asis JLB, Reyes JCB, Dacasin AB, Anlacan VMM.   +12 more
europepmc   +1 more source

Marker Metabolite‐Based Multi‐Omics Analysis Identifies New Loci Controlling Thousand Seed Weight in Brassica Napus

Advanced Science, EarlyView.
Marker metabolite‐based multi‐omics (genome, transcriptome, and metabolome) analysis is conducted firstly to unravel the genetic basis of thousand seed weight (TSW) in Brassica napus. The released metabolite‐QTL‐gene network represents a valuable genetic resource, and the newly validated BnaTGA6 is a promising target for the improvement of TSW in ...
Long Li, Zhitao Tian, Xiaowei Wu, Zengdong Tan, Xu Han, Yuyan Xiang, Jie Chen, Hu Zhao, Wei Chen, Liang Guo, Xuan Yao   +10 more
wiley   +1 more source

An intron SNP rs666088 in SLIT2 increases the risk of acute coronary syndrome in an Iranian population. [PDF]

BMC Med Genomics
Pakdaman P, Naderi N, Farshidi N, Farshidi H, Jafari Z, Rahimzadeh M.   +5 more
europepmc   +1 more source

Activation of USP30 Disrupts Endothelial Cell Function and Aggravates Acute Lung Injury Through Regulating the S‐Adenosylmethionine Cycle

Advanced Science, EarlyView.
USP30 deubiquitinates and stabilizes MAT2A, thereby regulating DNA methylation and miRNA expression, which ultimately leads to disruption of lung endothelial barrier and inflammation. Abstract Microvascular dysfunction is a key contributor to the development of acute inflammatory diseases, characterized by heightened vascular hyperpermeability and ...
Baoyinna Baoyinna, Jinshan He, Jiaxing Miao, Nargis Shaheen, Boyu Xia, Cankun Wang, Qin Ma, Matthew C Bernier, Bryan A Whitson, Nuo Sun, Jing Zhao, Yutong Zhao   +11 more
wiley   +1 more source

Counting the Invisible: New Tools to Estimate the Number of Contributors From Sequence-Based Microsatellite Genotyping of Environmental DNA Samples. [PDF]

Mol Ecol Resour
Lepais O, Paz-Vinas I.
europepmc   +1 more source

Dual Disruption of the Immune Cytokine Spätzle Facilitates Fungal Infection of Diverse Insect Hosts

Advanced Science, EarlyView.
The Toll pathway is essential for insect defense against fungal pathogens. This works reports that fungal parasites employ two divergent virulent effectors to target the Toll receptor ligand Spätzle: a metalloprotease degrading it and a hairpin‐like effector hijacking it to block signal transduction. This dual strategy enables the fungus to kill a wide
Shuangxiu Song, Shiqin Li, Yujuan Luo, Dongxiang Wei, Junmei Shang, Hongyun Wu, Gangqi Fang, Chengshu Wang   +7 more
wiley   +1 more source

Investigation of the characteristics of LDLR gene rs688 polymorphism and its association with dyslipidemia in patients at high to very high cardiovascular risk. [PDF]

BMC Cardiovasc Disord
Sen NTT, Nga PTN, Toan NH, Kien NT.
europepmc   +1 more source