Results 191 to 200 of about 426,507 (329)

Acod1 Promotes PAD4 Ubiquitination via UBR5 Alkylation to Modulate NETosis and Exert Protective Effects in Sepsis

Advanced Science, EarlyView.
In this study, Acod1 knockout in CLP mice significantly increases peripheral blood NET levels, exacerbating inflammation, organ damage, and reducing survival. Further research shows that UBR5 interacts with PAD4, a key NET formation protein. Acod1/itaconate (ITA) enhances the enzymatic activity of UBR5 by alkylating the Cys2768 site, promoting the K48 ...
Huifan Liu, Guoqing Jing, Shujuan Wu, Min Yuan, Yingyue Dong, Xue Chen, Huimin Zhou, Hailong Gong, Jing Zuo, Xiaojing Wu, Xuemin Song   +10 more
wiley   +1 more source

SSLpheno: a self-supervised learning approach for gene-phenotype association prediction using protein-protein interactions and gene ontology data. [PDF]

Bioinformatics, 2023
Bi X, Liang W, Zhao Q, Wang J.
europepmc   +1 more source

GO PaD: the Gene Ontology Partition Database [PDF]

, 2006
Gil Alterovitz, Michael Xiang, Mamta Mohan, Marco Ramoni   +3 more
openalex   +1 more source

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source

Genetics of ovulatory dysfunction and infertility: a scoping review and gene ontology analysis. [PDF]

Front Endocrinol (Lausanne)
DiPietro EE, Sarasua SM, Hopkins CS, Ganakammal SR, Boccuto L, Hurwitz J.   +5 more
europepmc   +1 more source

Microbial Gene Ontology informed deep neural network for microbe functionality discovery in human diseases. [PDF]

PLoS One, 2023
Liu Y, Zhang YZ, Imoto S.
europepmc   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Structural Changes in Gene Ontology Reveal Modular and Complex Representations of Biological Function. [PDF]

Mol Biol Evol
Valverde S, Vidiella B, Martínez-Redondo GI, Duran-Nebreda S, Fernández R, Bombarely A, Rojas AM, Bentley RA.   +7 more
europepmc   +1 more source

DGH-GO: dissecting the genetic heterogeneity of complex diseases using gene ontology. [PDF]

BMC Bioinformatics, 2023
Asif M, Martiniano HFMC, Lamurias A, Kausar S, Couto FM.   +4 more
europepmc   +1 more source

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source