Results 271 to 280 of about 1,186,851 (331)

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Association Between Gene Polymorphisms of RSPO2 of the Wnt Signaling Pathway and Schizophrenia in the Korean Population. [PDF]

Psychiatry Investig
Lee AR, Park HJ, Kang WS, Kim JW.
europepmc   +1 more source

Mendelian Randomization and Double Machine Learning Modeling Reveal Brain Imaging‐Derived Phenotypes as Functional Contributors to 18 Autoimmune Inflammatory Diseases

Advanced Science, EarlyView.
This schematic integrates the eight statistically significant causal relationships identified between 1,366 brain imaging‐derived phenotypes (IDPs) and 18 autoimmune inflammatory diseases (AIDs). Arrows indicate the direction of causality inferred from bidirectional two‐sample MR analyses.
Jinbin Chen, Xin Wang, Haifeng Ding, Bosheng Zheng, Keni Zeng, Chuying Hu, Jiayi Liu, Xiao Zhu, Haibing Yu   +8 more
wiley   +1 more source

Comparison of different methods for the detection of HLA-B* 57:01 allele in people living with HIV in Eastern Uttar Pradesh, India. [PDF]

BMC Infect Dis
Rai TK, Chakravarty J, Priyanka K, Gautam A, Srivastva S.   +4 more
europepmc   +1 more source

Endothelial Cell‐Specific Molecule‐1 (ESM1): An Endogenous Anticoagulant and Protective Factor in Venous Thrombosis

Advanced Science, EarlyView.
This study identifies ESM1 as an endogenous anticoagulant that modulates venous thrombosis. It shows that ESM1 deficiency triggers vascular occlusion in zebrafish and mice, whereas its restoration or overexpression prolongs clot‐formation time. Mechanistic analyses reveal that ESM1 activates HCII through its dermatan‐sulfate chain, uncovering a ...
Changsheng Chen, Xiaojuan Ge, Dongxu Fu, Haijun Mei, Feng Lv, Chao Yang, Jiahao Lu, Xiaozhong Shen, Bowen Li, Xiaoning Wang, Dong Liu   +10 more
wiley   +1 more source

Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia. [PDF]

BMC Med Genomics
Arikan Y, Mercan TK, Embel M, Kurtoglu E.   +3 more
europepmc   +1 more source

Pirin Transcriptionally Regulates PLA2G4A To Inhibit Ferroptosis in Colorectal Cancer via Lipid Profile Remodeling

Advanced Science, EarlyView.
This study identifies Pirin (PIR), an iron‐binding protein, as a critical ferroptosis suppressor in colorectal cancer through lipid membrane remodeling. PIR, induced by NRF2 during ferroptotic stress, transcriptionally regulates PLA2G4A to shift cellular lipid composition away from ferroptosis‐permissive polyunsaturated phospholipids.
Wei Shi, Yue Qi Ong, Prativa Majee, Esther SM Wong, Amhed Missael Vargas Velazquez, Kerem Fidan, Pierce Kah‐Hoe Chow, Wai Leong Tam, Ker Kan Tan, Iain Beehuat Tan, Vinay Tergaonkar   +10 more
wiley   +1 more source

Association of the Endothelial Nitric Oxide Synthase (eNOS) G894T Gene Polymorphism With Type 2 Diabetes Mellitus in a Tunisian Population. [PDF]

Endocrinol Diabetes Metab
Ba A, Ayoub M, Aboulkacem S, Belhedi M, Aouni Z, Mazigh C.   +5 more
europepmc   +1 more source

TOGR3, a Proteasome β4 Subunit, Orchestrates Sugar Homeostasis to Trade Off Growth and Thermotolerance in Rice

Advanced Science, EarlyView.
This study identifies a novel thermoregulatory mechanism in rice: TOGR3 partners with 26S proteasome subunits, including TT1, to drive thermoresponsive ubiquitin–proteasome activity, maintaining sugar homeostasis in stomatal regulation to balance growth and stress resistance.
Biyao Zhang, Xiaoyan Wu, Ting Xu, Feifei Guo, Xiaolu Shen, Cuiping Meng, Yanan Wang, Xue Han, Hong Zhao, Yongbiao Xue   +9 more
wiley   +1 more source

Species-Specific Parent-Of-Origin Expression of Adam23 in the Mammalian Brain. [PDF]

Genes Cells
Meguro-Horike M, Saito K, Shimazu M, Shinmyo Y, Kawasaki H, Horike SI.   +5 more
europepmc   +1 more source