Results 61 to 70 of about 64,503 (262)

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation [PDF]

Journal of Clinical Investigation, 1999
Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of
T N, Darling, C, Yee, J W, Bauer, H, Hintner, K B, Yancey   +4 more
openaire   +2 more sources

β‐Elemene Rescues Radiation‐Induced Enteritis by Orchestrating a Host‐Microbiome Circuit That Fuels Epigenetic DNA Repair

Advanced Science, EarlyView.
This study elucidates that β‐elemene promotes cellular uptake of L. gasseri‐derived lactate by enhancing the membrane translocation of MCT1 in a CD147‐dependent manner. Intracellular lactate, through the lactylation of RBBP4 at the K26 site, recruits EP300 to the promoter regions of downstream genes (POLD1/POLD3), catalyzing H3K27ac modification.
Jiancheng He, Jiapeng Bao, Shukang Deng, Weijie Zang, Haoming Yan, Zihao Zhao, Guangze Zhang, Ruiqing Liu, Junjie Chen, Yilin Hu, Wanjiang Xue   +10 more
wiley   +1 more source

Auto‐Downregulation of the Florigen FT Production Prevents Precocious Flowering in Plants

Advanced Science, EarlyView.
This study shows that the leaf vein‐expressed FD complexes with the florigen FT to bind DNA motifs in FT promoter, which antagonizes CONSTANS‐mediated FT activation to feedback down‐regulate FT expression. This prevents an excessive induction of FT expression by inductive photoperiods, thereby precluding precocious transition to flowering in ...
Shu Tian, Xiao Luo, Bowen Cui, Yuehui He
wiley   +1 more source

Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene

Stem Cell Research, 2020
Induced pluripotent stem cell (iPSC) line, THSJTUi001-A, was generated from a 26-year-old Chinese male patient with Wilson's disease carrying a homozygous Arg778Leu mutation in ATP7B gene, using non-integrated episomal reprogramming vectors.
Shu-Hong Wang, Xiao-Ping Wang
doaj   +1 more source

Histone Modification Complex JMJ704‐HDA709 Negatively Regulates Salinity Tolerance in Rice

Advanced Science, EarlyView.
This study reveals that the rice histone demethylase JMJ704 interacts with HDA709―a H3K9ac deacetylase characterized herein―to form a chromatin‐modifying complex. Under salt stress, OsWRKY72 recruits this complex through interaction with JMJ704 to target loci, repressing the expression of oxidative stress and salt‐responsive genes via removal of ...
Jing Wang, Zhengting Chen, Pengxiang Bai, Biao Liu, Lingling Meng, Jian Zhang, Xu Li, Dao‐Xiu Zhou, Xuan Ma, Yu Zhao   +9 more
wiley   +1 more source

Leonurine Ameliorates Doxorubicin‐Induced Cardiotoxicity via STING/NF‐κB/NLRP3 Inflammasome Signaling Pathway

Advanced Science, EarlyView.
ABSTRACT Doxorubicin‐induced cardiomyopathy (DIC) remains a dose‐limiting clinical challenge. This study reveals that cardiac vascular endothelial cells (CVECs) act as initial sensors of doxorubicin cardiotoxicity: circulating doxorubicin activates the cGAS‑STING pathway in CVECs, triggering NLRP3 inflammasome‑mediated pyroptosis and release of ...
Wang Jun, Chen Xiaoyang, Xu Jianglin, Yang Zhi, Tao Meijiao, He Jiale, Zhao Jiangfeng, Hei Xuanding, Xu Xuegong, Wang Wei, Li Chun   +10 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene

Stem Cell Research
Familial hypercholesterolemia is an autosomal dominant genetic disorder that often leads to abnormally high cholesterol levels in the body, which is closely related to early-onset coronary heart disease.
Yongjuan Ruan, Xiaowei Li, Jianzeng Dong, Youjian Zhang   +3 more
doaj   +1 more source

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

Stem Cell Research, 2020
We derived an integration-free induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 23-year-old male patient.
Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan   +12 more
doaj   +1 more source

A Conserved DT2‐bZIP66‐NF‐YC4 Regulatory Module Confers Drought Tolerance in Rice and Arabidopsis

Advanced Science, EarlyView.
This study identifies a conserved tripartiteDT2–bZIP66–NF‐YC4 transcriptional module that enhances rice drought tolerance by activating stress‐responsive genes. This regulatory complex is functionally conserved across cereals and Arabidopsis, providing promising targets for engineering drought‐resilient crops. ABSTRACT Drought stress severely restricts
Jun Shen, Yuchen Li, Liang Zhang, Xiaosong Ma, Chenyin Peng, Chunting Yuan, Yu Wu, Kaiyu Zhao, Sheng Zhao, Jiazhuo Guo, Run Li, Ziqian Yan, Shule Ren, Yige Han, Xin Lin, Xinyue Li, Ming Li, Pingfang Yang, Shiyong Song   +18 more
wiley   +1 more source

Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del)

Stem Cell Research
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is a rare autosomal dominant disorder caused by a heterozygous mutation in the NOVA2 gene on chromosome 19q13.
Tingting Yin, Yanyan Qian, Xi Zhang, Yunfei Liao, Bingbing Wu, Sujuan Wang, Huijun Wang   +6 more
doaj   +1 more source