Results 91 to 100 of about 3,322,892 (202)

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source

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

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers [PDF]

, 2004
<p>Introduction: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier ...
Antoniou, A.C., Spurdle, A.B., Cook, M.R., Purdie, David M., Susan Peock, Hopper, John L., Easton, Douglas, Newman, B, kConFaB, Antoniou, AC, Kelemen, Livia, Tobias, E.S., Smith, Paula, Pandeya, N, Giles, GG, Beth Newman, Giles, Graham, Chenevix-Trench, Georgia, Cook, Margaret, Apicella, Carmel, Nirmala Pandeya, Easton, Douglas F., Melissa C Southey, Southey, M.C., Antoniou, Antonis, Purdie, David, Chenevix-Trench, G, Cook, MR, Peock, Susan, Apicella, C., Giles, G.G., Apicella, C, Purdie, D.M., Xiaoqing Chen, Antoniou, Antonis C., David L Duffy, Margaret R Cook, Duffy, David, Newman, Beth, ABCFS, Duffy, D.L., Pandeya, N., Amanda B Spurdle, Dite, Gillian S., Giles, Graham G., Georgia Chenevix-Trench, Smith, Paula L., Newman, B., Gillian S Dite, Hopper, J.L., John L Hopper, Southey, MC, Chen, Xiaoqing, Chen, X., Cook, Margaret R., Chen, X, Duffy, David L., EMBRACE Study Collaborators, Purdie, DM, Hopper, JL, Easton, D.F., Dite, Gillian, Douglas F Easton, David M Purdie, Southey, Melissa, Smith, P.L., AJBCS, Chenevix-Trench, G., Dite, GS, Spurdle, Amanda, Peock, S., Antonis C Antoniou, Chevenix-Trench, Georgia, Dite, G.S., Spurdle, Amanda B., Carmel Apicella, Spurdle, AB, Kelemen, L., Pandeya, Nirmala, Smith, PL, Kelemen, L, Easton, DF, Southey, Melissa C., Paula L Smith, Hopper, John, Livia Kelemen, Duffy, DL, Peock, S, Graham G Giles   +88 more
core   +3 more sources

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

A novel A–>G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency.

Journal of Lipid Research, 1996
We have identified the underlying molecular defect in a patient with hepatic lipase (HL) deficiency presenting with hypertriglyceridemia and premature cardiovascular disease.
K Brand, K A Dugi, J D Brunzell, D N Nevin, S Santamarina-Fojo   +4 more
doaj   +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

First detection of the splice donor site IVS-I-2 (T-->B) beta-thalassemia mutation in a Chinese patient

Haematologica, 2005
We present the first description of a Chinese family with a rare b-thalassemia mutation commonly observed in black Americans. This mutation is a splice donor site mutation, and is associated with a phenotype of beta0-thalassemia.
C Liao, J Li, Y Huang, D Li
doaj  

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

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Scientific Reports, 2018
Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in  A).
Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata   +9 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