Results 131 to 140 of about 143,230 (264)

Inhibition of KDEL Receptors Remodels the Tumor Microenvironment for T Cell Independent Tumor Regression

Advanced Science, EarlyView.
Inhibition of KDELR2 in a small fraction of tumor cells generates sustainable immunogenic cell death conditions within the tumor microenvironment. These conditions promote the regression of tumors in a T cell independent manner. During regression, macrophages prime T cells that subsequently provide systemic protection against recurrence. The potency of
Shakti P Pattanayak, Hong Wang, Belinda Willard, Timothy A. Chan, William C Merrick, Zheng‐Rong Lu, Boaz Tirosh   +6 more
wiley   +1 more source

Splice-site mutations in POU2AF1 are associated with B-cell lymphomagenesis and therapeutic response. [PDF]

Sci Rep
Yanguas-Casás N, Pedrosa L, Horcajo B, Gómez S, Garcia-Grande A, Muñoz-Viana R, Fernández-Miranda I, Pérez-Aguilera M, Torres-Ruiz R, Rodríguez-Perales S, Sánchez-Beato M.   +10 more
europepmc   +1 more source

Targeting the HSPA8‐CMA‐ATP6V1A Axis Triggers Lysosomal Hyperacidification and Catastrophic Vacuolation in Prostate Cancer

Advanced Science, EarlyView.
Our experimental evidence supports a model in which ALO targets the HSPA8‐CMA‐ATP6V1A axis to induce lysosomal hyperacidification and initiate osmotic and lipidomic stress. These changes are associated with LMP and loss of lysosomal integrity in prostate cancer cells.
Bingzheng An, Ze Gao, Shuo Chen, Liwei Meng, Chen Zhang, Kefan Song, Haochen Cui, Lei Yan, Zhiqing Fang   +8 more
wiley   +1 more source

A Familial X-Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice-Site Variant. [PDF]

Anim Genet
Letko A, Jagannathan V, Drögemüller C, Lühken G.   +3 more
europepmc   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly. [PDF]

Front Pediatr
Liu X, Pang L, Li J, Zhang J, Wu W, Li X, Gong Y, Dou Y, Chen F, Sun S.   +9 more
europepmc   +1 more source

Splice-Site Mutation [PDF]

, 2020
openaire   +1 more source

RBM12 Maintains Glioma Stem Cells by Activating Amino Acid‐Dependent mTORC1 Signaling via SLC7A5 mRNA Stabilization

Advanced Science, EarlyView.
This study shows that in glioma stem cells (GSCs), RBM12 recruits ALKBH5 to remove m6A from SLC7A5 transcripts, thereby enhancing mRNA stability, which elevates large neutral amino acid (LNAA) levels and activates mTORC1, promoting GSC proliferation, self‐renewal, and tumor growth.
Hong Lei, Wenlong Luo, Shu Zhou, Lihao Wan, Peng Ling, Zhihua Huang, Zhihua Qian, Chenfei Lu, Mengyue Guo, Zhen Xue, Jun Qin, Ningwei Zhao, Jianghong Man, Wenchao Zhou, Zhiqiang Dong, Shutong Xu, Zhipeng Zhou, Xiuxing Wang, Weiwei Tao   +18 more
wiley   +1 more source

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved. [PDF]

Hum Genet
Beale HC, Tse V, Lee JY, Akutagawa J, Mavura Y, Saint-John B, Cheney A, Mulligan DR, Chacaltana G, Gutierrez M, Tenney J, Shieh JT, Martin PM, Yip T, Hodoglugil U, Fay AJ, Brooks AN, Van Ziffle J, Stone MD, Risch N, Sanford JR, Devine P, Saba JD, Vaske OM, Slavotinek A.   +24 more
europepmc   +1 more source

Splice Site SNP [PDF]

, 2020
openaire   +1 more source