Results 101 to 110 of about 606,407 (214)

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

Gm26550 Modulates Learning and Memory by Increasing IGF1 mRNA Expression and Stability in Nrf2−/− Mice

Advanced Science, EarlyView.
The present study shows that Nrf2 directly binds to the Gm26550 promoter, thereby activating Gm26550 transcription and increasing its expression. Mechanistically, Gm26550 promotes IGF1 expression by functionally antagonizing miR‐26a‐5p‐mediated repression and sequestering the RBP KHSRP, thereby enhancing hippocampal neuronal synaptic plasticity and ...
Hongfang Wang, Ziyao Wang, Dongyue Zuo, Zhaowen Su, Bowen Song, Jiamin Gao, Yizhou Zhang, Ruiting Zhao, Linjie Sun, Mengdi Li, Yirui Fan, Dandan Geng, Lei Wang   +12 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs [PDF]

, 2006
We report the first genome-wide identification and characterization of alternative splicing in human gene transcripts based on analysis of the full-length cDNAs.
Go, M., Nakao, M., Thierry-Mieg, J., Imanishi, T., Otsuki, T., Isogai, T., Takeda, J-I, Hata, H., Koyanagi, K.O., Gojobori, T., Suzuki, Y., Nomura, N., Yura, K., Shionyu, M., Jin, L., Motono, C., Kuryshev, V., Barrero, R.A., Wiemann, S., Nagai, K., Thierry-Mieg, D., Sugano, S.   +21 more
core  

Microprotein MP104 Promotes Malignant Progression of Colorectal Cancer Through Regulating Protein Translation

Advanced Science, EarlyView.
A previously unrecognized microprotein, MP104, encoded by ZEB1‐AS1, emerges as a critical driver of colorectal cancer progression. MP104 links ubiquitin‐mediated protein degradation with translational reprogramming via the UBE2O–AMPKα2–mTOR–EIF4B axis, revealing an unrecognized layer of oncogenic regulation.
Fang Chen, Miao Wang, Hongmei Yong, Jin Ding, Shiping Xu, Qirui Ge, Yan Wang, Lei Zhang, Qianqian Xiao, Benli Li, Li Lin, Sufang Chu, Qianqing Wang, Jin Bai, Pingfu Hou   +14 more
wiley   +1 more source

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +1 more source

Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes

Molecular Therapy: Nucleic Acids, 2017
Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans-splicing, exon skipping, and gene replacement in a mouse model of hypertrophic cardiomyopathy (HCM) carrying a mutation ...
Maksymilian Prondzynski, Elisabeth Krämer, Sandra D. Laufer, Aya Shibamiya, Ole Pless, Frederik Flenner, Oliver J. Müller, Julia Münch, Charles Redwood, Arne Hansen, Monica Patten, Thomas Eschenhagen, Giulia Mearini, Lucie Carrier   +13 more
doaj   +1 more source

CA9‐Targeted PET Imaging for Noninvasive Discrimination of Clear Cell Renal Cell Carcinoma and Associated Tumor Biological Features

Advanced Science, EarlyView.
CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen, Sixuan Cheng, Jian Shi, Ruijie Liu, Yilong Wu, Xin Zheng, Xinlun Song, Yunxuan Zhang, Lei Liu, Zhihao Wei, Qi Wang, Xinwei Li, Zirui Dong, Yuenan Liu, Hongmei Yang, Xiaoli Lan, Chunxia Qin, Dawei Jiang, Keshan Wang, Xiaoping Zhang   +19 more
wiley   +1 more source

Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations [PDF]

, 2007
Premi a l'excel·lència investigadora. Àmbit de les Ciències de la Salut. 2008FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses.
Detlev Schindler, Casado, José A., Bueren, Juan, Schindler, Detlev, Arleen D. Auerbach, Holger Hoehn, Schneider, Hildegard, Kornelia Neveling, Elsa Callén, Kalba, Reinhard, Berwick, Marianne, Jean Soulier, Hunt, Curtis, Pals, Gerard, Rosalina van Spaendonk, Gluckman, Eliane, Callén Moréu, Elsa, Joenje, Hans, Kalb, Reinhard, Batish, Sat Dev, Soulier, Jean, Juan Bueren, Hanenberg, Helmut, Helmut Hanenberg, C. Michel Zwaan, Linka, Yvonne, Winter, Johan P. de, Eliane Gluckman, Neveling, Kornelia, Yvonne Linka, Hans Joenje, Markus Grompe, Johan P. de Winter, Grompe, Markus, Zwaan, C. Michel, Reinhard Kalb, Hoehn, Holger, Auerbach, Arleen D., Jordi Surrallés, Ángeles Dasí, de Winter, Johan P., Dasí, Ángeles, Marianne Berwick, José A. Casado, Sat Dev Batish, Curtis Hunt, Van Spaendonk, Rosalina, Callén, Elsa, Hildegard Schneider, Batishb, Sat Dev, Gerard Pals, Bueren, J, Dasi, A, Neveling, K, Schindler, D, Hunt, C, Berwick, M, Hanenberg, H, Callen, E, Gluckman, E, de Winter, JP (Johan), Auerbach, AD, Zwaan, C.M., Surralles, Jordi, Schneider, H, van Spaendonk, RML (Rosalina), Joenje, H, Grompe, M, Hoehn, H, Casado, JA, Pals, G, Soulier, J, Surralles, J, Kalb, R, Batish, SD, Linka, Y   +75 more
core   +1 more source

A Phosphorylation‐Induced Micellization Switch in the Low‐Complexity Domain of TDP‐43

Advanced Science, EarlyView.
Phosphorylation of TAR DNA‐binding protein's 43 kDa (TDP‐43) low‐complexity domain by casein kinase 1 delta (CK1δ) acts as a molecular switch, redirecting its self‐assembly from macroscopic phase separation toward finite‐sized, spherical block‐copolymer micelles of ∼30 nm.
Rodrigo F. Dillenburg, Anastasia Lopatina, Hao Ruan, Tom Scheidt, Simone Mosna, Emre Pekbilir, Julia Bieber, Frank Schäfer‐Depoix, Katharina Landfester, Carla Schmidt, Martin M. Möckel, Svenja Morsbach, Friederike Schmid, Dorothee Dormann, Lukas Stelzl, Martin Girard, Edward A. Lemke   +16 more
wiley   +1 more source