Results 211 to 220 of about 1,102,607 (331)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

The interaction of XPG with TFIIH through p62 and XPD is required for the completion of nucleotide excision repair. [PDF]

Nucleic Acids Res
Kim M, Jeong E, Park J, D'Souza A, Tsai MS, Yan C, Ivanov I, Chazin WJ, Kim HS, Schärer OD.   +9 more
europepmc   +1 more source

NSUN2‐Mediated m5C Modification of TGFB1 in Trophoblasts Remodels Macrophage Function to Prevent URSA

Advanced Science, EarlyView.
NSUN2 and m5C decline in URSA villous tissues. Trophoblast Nsun2 ablation disrupts macrophage‐mediated maternal‐fetal tolerance and triggers embryo resorption. Mechanistically, NSUN2‐YBX1 axis stabilizes m5C‐modified TGFB1 mRNA to maintain TGF‐β1 secretion and M2 polarization, and restoring this signaling rescues maternal‐fetal immune tolerance to ...
Xiaoxiao Zhu, Xinkui Liu, Xiaoyan Yu, Qiaoqiao Han, Feifei Shi, Weiwei Song, Lu Liu, Chu Chu, Chenyang Shen, Zhen Zhang, Xia Li   +10 more
wiley   +1 more source

Transcription-coupled nucleotide excision repair protects against genomic instability and cell death induced by the liver toxin methyleugenol. [PDF]

Cell Death Dis
Quarz C, Walter RS, Hens LE, Carlsson MJ, Vollmer AS, Llerena Schiffmacher DA, Pätzold N, Ackermann G, Heylmann D, Stegmüller S, Meabed M, Cartus AT, Amelio I, Richling E, Vermeulen W, Pines A, Khobta A, Fahrer J.   +17 more
europepmc   +1 more source

Bone Marrow Macrophage STING Signaling is a Direct Nexus Linking Marrow Adipose Expansion to NAD+ Depletion and Osteogenic Decline in Skeletal Aging

Advanced Science, EarlyView.
This study reveals that during skeletal aging, bone marrow adipocyte‐derived sDPP4 primes STING signaling in macrophages. In combination with mitochondrial DNA, this signaling activates CD38 and depletes local NAD+/NMN, thereby impairing osteogenesis.
Zhichao Li, Kuanhui Gao, Mengjie Wang, Songlin Liang, Dandan Li, Guoqing Tan, Haipeng Xue, Yujie Liu, Peng Zhang, Zhanwang Xu, Wenxiang Cheng, Yongjun Wang, Nianhu Li   +12 more
wiley   +1 more source

Transcription-Coupled Nucleotide Excision Repair: A Faster Solution or the Only Option? [PDF]

Biomolecules
Khobta A, Sarmini L.
europepmc   +1 more source

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Development of a competitive immunoassay platform for quantifying the oligonucleotide products of nucleotide excision repair in UV-irradiated cells. [PDF]

Nucleic Acids Res
Kim GH, Kwon HJ, Kim Y, Kemp MG, Choi JH.   +4 more
europepmc   +1 more source

Phase Separation of SF3B1 Serves as a Critical Post‐Transcriptional Regulator During Early Mouse Embryogenesis

Advanced Science, EarlyView.
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao, Ting‐Yu Han, Yan‐Li Cheng, Yi‐Dan Zhang, Yu‐Wei Zhang, JinJian Guo, ShaoJun Zhang, WenZe Huang, Jing Zhang, Pei‐Yu Liao, Ying Xin, ChuanChen Chu, Qing‐Yuan Sun, ZhiZhen Liu, Xiang‐Hong Ou, Jun Xie   +15 more
wiley   +1 more source

Nucleotide excision repair and poly(ADP-ribose) polymerase 1 cooperate in HBV cccDNA synthesis: A potential viral therapeutic target. [PDF]

JHEP Rep
Hung HC, Tsai HW, Li YT, Liu WC, Cheng KH, Yen CJ, Lee YP, Fang YH, Chuang CH, Wu HL, Chang TT, Huang W.   +11 more
europepmc   +1 more source