Results 221 to 230 of about 2,990,182 (255)

Extracellular Vesicle Packaged TDP43 Derived From ECs Exacerbates Cigarette Tar‐Related Atherosclerosis Progression via Enhancing Macrophage Extracellular Traps

Advanced Science, EarlyView.
Cigarette tar triggers EC‐derived EVs carrying TDP43, which binds VDAC1 to boost MAMs, mitochondrial Ca2+ overload, and METs formation in macrophages, accelerating smoking‐related AS progression, while retinoic acid binds TDP43 to block this pathogenic cascade.
Xinxin Zhu, Yuwu Chen, Wei Meng, Biyi Xu, Junke Mou, Xiaolin Liu, Mengyang Wang, Qishuo Gu, Qianhui Sun, Man Li, Chen Zhao, Ming Zeng, Ying Lv, Boling Yi, Sheng Qu, Xiaoxuan Bai, Ji Li, Xing Luo, Sining Hu, Bo Yu, Haibo Jia   +20 more
wiley   +1 more source

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review. [PDF]

Front Pediatr
Yousaf H, Zonash Z, Manzoor J, Ali A, Khalid LB, Zafar G, Ali S, Toft M, Fatima A, Iqbal Z.   +9 more
europepmc   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

Characterization of a novel inherited splice-site variant in <i>MAPK8IP3</i> expands the genetic and phenotypic spectrum of neurodevelopmental disorders. [PDF]

Biochem Biophys Rep
Yi S, Yang Q, Song X, Huang L, Yi S, Qin Z, Luo J.   +6 more
europepmc   +1 more source

Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design

Advanced Science, EarlyView.
This review systematically elaborates on the mechanisms underlying physiological regulation and pathological dysregulation of biomolecular phase separation. It also summarizes advances in phase‑separation‑targeted therapeutic strategies and the design of functional biomaterials inspired by this process.
Jiawei Zhu, Jingbo Dong, Qiufang Gong, Xuejiao Song, Zhifa Shen, Chao Liang   +5 more
wiley   +1 more source

Splice site diversity and abundance of noncanonical introns in diplonemids (Diplonemea, Euglenozoa). [PDF]

RNA
Thakur PK, Butenko A, Karásek F, Svobodová M, Faktorová D, Pavlisková H, Varga V, Horák A, Lukeš J, Staněk D.   +9 more
europepmc   +1 more source

Digoxin Alleviates Osteoarthritis by Inhibiting Macrophage Extracellular Trap Formation via Disruption of the LSP1‐SOD1 Interaction

Advanced Science, EarlyView.
Synovial macrophages in osteoarthritis upregulate LSP1, which directly binds and inhibits SOD1, triggering a redox imbalance that activates both NOX and mitochondrial ROS pathways. This cascade drives the release of macrophage extracellular traps (METs), causing chondrocyte damage and disease progression.
Yankai Pan, Xinzhe Feng, Chuanju Liu, Jianfei Tong, Zhi Li, Chenxu Liu, Yutong Dong, Chen Meng, Yihong Xu, Weidong Xu   +9 more
wiley   +1 more source

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians. [PDF]

J Clin Invest
Li F, Shinomiya H, Kuramoto Y, Kanaoka K, Sakahashi Y, Ishihara Y, Kioka H, Ide S, Yamaguchi-Kabata Y, Tadaka S, Motoike IN, Kinoshita K, Ohneda K, Sakurai H, Okumura T, Miyashita Y, Jojima K, Kato H, Matsuoka K, Tanabe K, Nishimura S, Takashima S, Asano Y, Sakata Y.   +23 more
europepmc   +1 more source

SEC Mediates m6A Deposition and Transcription Pause Release to Drive Cell Identity Transition

Advanced Science, EarlyView.
The SEC promotes cell identity transitions by facilitating transcription pause release at key identity‐associated genes, including Klf4 and Myc during iPSC reprogramming and Nes and Tubb3 during ESC‐to‐neuroectodermal differentiation. During early iPSC reprogramming, this function additionally involves cooperation with METTL3‐associated m6A regulation.
Zhijing Zhang, Jingyi Xu, Yonghong Wu, Yitong Qu, Xinglin Hu, Yuchen Sun, Yanshuang Wu, Zhonghua Liu, Jiaqiang Wang, Lei Lei   +9 more
wiley   +1 more source

Mixed Movement Disorder in a Patient With a Novel Biallelic KCNMA1 Splice-Site Variant: Expanding the Genotype-Phenotype Correlation. [PDF]

J Mov Disord
Farsana MK, Holla VV, Raval MA, Kamble N, Yadav R, Pal PK.   +5 more
europepmc   +1 more source