Results 191 to 200 of about 80,852 (330)

Case Report: unmasking pseudo-homozygosity in <i>CYP21A2</i>: intergenerational gene conversion expansion and the necessity of multimodal genetic testing. [PDF]

Front Endocrinol (Lausanne)
Altintas Z, Karaca S, Coskun A.
europepmc   +1 more source

CXCL3 Antagonism Reverses Systemic Antitumor Immune Memory Impairment Associated With High Tumor Burden and Sensitizes Anti‐PD‐1 Therapy

Advanced Science, EarlyView.
This study reveals that large tumors secrete more chemokine CXCL3, which recruits immunosuppressive neutrophils to the periphery, thereby impairing the activation and memory of systemic tumor‑reactive CD8+ T cells. CXCL3 antagonism restores systemic immune memory and enhances the antitumor efficacy of anti‑PD‑1 therapy, offering a potential strategy to
Ji Wang, Xinyu Tang, Zeju Li, Qi Qi, Chang Sun, Wen Sun, Weiya Zhang, Yue Yin, Ya Deng, Peiwen Ling, Yifan Xu, Guangshun Sun, Yi Ren, Hong Pan, Shui Wang, Wenbin Zhou   +15 more
wiley   +1 more source

MN•CS•IO System: Cross‐Species Study for HBB Function in High‐Altitude Hypoxia Adaptation

Advanced Science, EarlyView.
We developed an integrative mesh‐nanorod sorting, chitosan nanoparticle delivery, and intraosseous injection (MN•CS•IO) system to investigate HBB in high‐altitude hypoxia adaptation. Transplanting Tibetan animals' HBB‐modified Lin‐ cells into mice achieved 95.59% transfection efficiency and 8.15% HBB expression. High‐altitude HBB recipients upregulated
Wenqiao Hui, Lin Mao, Binggang Li, Hanyue Kang, Zhengquan Tang, Sheng Chen, Hui Yang, Yu Qiao, Huiqian Ding, Yuhuan Wang, Min Li, Junjie Hu, Shoudong Ye, Xin Wang, Xiaobin Xu, Yupeng Wang, Tana Wuren, Qian Ban, Baowei Zhang   +18 more
wiley   +1 more source

Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic <i>POLG</i> Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Melo CF, de Vasconcelos LT, Evangelista LAB.   +2 more
europepmc   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East. [PDF]

JPGN Rep
Gillette L, Safar MA, Mochida GH, Johnson C, Babcock S, Schmitz-Abe K, Field M, Yang J, Bearup R, Megahed A, Abbas MEER, Baraket T, Elziny S, Sobh A, Eren G, AlRefaee F, Bitar R, Miqdady M, Agrawal PB, Snapper SB, Thiagarajah JR, Ouahed J.   +21 more
europepmc   +1 more source

Blue Light Receptor PHR2‐Mediated Spectrum Antiviral Immunity

Advanced Science, EarlyView.
Blue light suppresses RBSDV through the blue‐light receptor ZmPHR2, which interacts with ZmISP in chloroplasts to trigger ROS burst and antiviral defense. The viral effector P6 enhances ZmPHR2–ZmISP interaction, alters their distribution, and suppresses ROS.
Runyi Chen, Yuxin Tai, Xinyu Wang, Chunhua Mu, Xia Liu, Gongjian Li, Jiayi Liu, Xin Lu, Duo Shi, Zhiqiang Zhou, Jienan Han, Zhuanfang Hao, Mingshun Li, Degui Zhang, Hongjun Yong, Zhennan Xu, Jianfeng Weng, Xinhai Li   +17 more
wiley   +1 more source

Genetic diversity and genomic inbreeding trends in the Japanese Thoroughbred population. [PDF]

J Equine Sci
Ishige T, Kawate K, Kikuchi M, Furukawa R, Tozaki T, Kakoi H.   +5 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

Genetic Diversity and Runs of Homozygosity in Three Masu Salmon (<i>Oncorhynchus masou</i>) Populations Based on Whole-Genome Resequencing Data. [PDF]

Biomolecules
Bai S, Geng C, Wang W, Yan X, Dong T, Song H, Hu H.   +6 more
europepmc   +1 more source