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| 1 | STUDIES ON PATHOGENESIS OF WAARDENBURG SYNDROME TYPE Ⅱ AND TIETZ SYNDROME RESULTING FROM MITF GENE MUTATIONS显示文摘Microphthalmia-associated transcription factor(MITF) controls melanocyte survival and differentiation through directly regulating the expression of the tyrosinase(TYR) and tyrosinase- related proteins 1 and 2(TYRP1 and TYRP2) genes. MITF mutations have been reported to result in an abnormal melanocyte development and lead to Waardenburg syndrome type 2(WS2), characterized by variable degrees of sensorineural hearing loss and patchy regional distribution of hypopigmentation. Recently, MITF was also indicated as a causative gene for a more severe syndrome, the Tietz Syndrome(TS), characterized by generalized hypopigmentation and complete hearing loss. However, few functional studies have been performed to compare the diseases-causing mutations. Here, we analyzed the in vitro activity of two recent identified WS2-associated mutation(p.R217I and p.T192fsX18) and one TS-associated mutation p.N210K. The R217I MITF retained partial activity, normal DNA-binding ability and nuclear distribution, whereas the T192fsX18 MITF failed to activate TYR promoter due to loss of DNA-binding activity, and aberrant subcellular localization.The aberrant subcellular localization of T192fsX18 MITF may be caused by deletion of a putative nuclear localization signal(NLS) at aa 213-218(ERRRRF). Indeed, MITF with deletion of the NLS fragment failed to translocate into the nucleus and activated the TYR promoter. Tagging this NLS to GFP promoted the green fluorescence protein(GFP) translocated into the nucleus. The surprising finding of our study is that a TS-associated MITF mutation, N210K, showed comparable in vitro activity as WT. Thus, the possible involvement of MITF in TS and its underlying mechanisms still need further investigation. | ZHANG Hua LI Jiada LUO Hunjin CHEN Hongsheng MEI Lingyun HE Chufeng JIANG Lu FENG Yong | 2013 | Journal of Otology2013，8，2： | 2 |
| 2 | FERONIA is involved in phototropin 1-mediated blue light phototropic growth in Arabidopsis显示文摘Plant shoot phototropism is triggered by the formation of a light-driven auxin gradient leading to bending growth.The blue light receptor phototropin 1(phot1)senses light direction,but how this leads to auxin gradient formation and growth regulation remains poorly understood.Previous studies have suggested phot1’s role for regulated apoplastic acidification,but its relation to phototropin and hypocotyl phototropism is unclear.Herein,we show that blue light can cause phot1 to interact with and phosphorylate FERONIA(FER),a known cell growth regulator,and trigger downstream phototropic bending growth in Arabidopsis hypocotyls.fer mutants showed defects in phototropic growth,similar to phot1/2 mutant.FER also interacts with and phosphorylates phytochrome kinase substrates,the phot1 downstream substrates.The phot1-FER pathway acts upstream of apoplastic acidification and the auxin gradient formation in hypocotyl under lateral blue light,both of which are critical for phototropic bending growth in hypocotyls.Our study highlights a pivotal role of FER in the phot1-mediated phototropic cell growth regulation in plants. | Chiyu Li Jia Chen Xiaoyan Li Xin Zhang Ying Liu Sirui Zhu Long Wang Heping Zheng Sheng Luan Jiada Li Feng Yu | 2022 | Journal of Integrative Plant Biology2022，64，10： | 1 |
| 3 | CNx Films Deposited by Laser Ablation of Graphite Under Low Energy Nitrogen-Ion Beam Bombardment显示文摘Deposition of CN_(x) thin films on Si(111)has been performed by laser ablation of graphite under a low-energy nitrogen ion beam bombardment.Films with a maximum N-concentration of 34%are obtained.The N species is found to be relatively constant along the depth of films.X-ray spectroscopy data confirm the existence of covalent C-N bonds.Nanocrystallites structure has been detected in the amorphous matrix of the films.Qualitative hardness tests indicate that the films are relatively hard and adhesive. | REN Zhongmin XIONG Xiaxing DU Yuancheng WU Jiada YING Zhifeng QIU Yuanxun LI Fuming | 1994 | Chinese Physics Letters1994，11，7： | 0 |
| 4 | PINK1-mediated Drp1^(S616) phosphorylation modulates synaptic development and plasticity via promoting mitochondrial fission显示文摘Dynamic change of mitochondrial morphology and distribution along neuronal branches are essential for neural circuitry formation and synaptic efficacy.However,the underlying mechanism remains elusive.We show here that Pink1 knockout(KO)mice display defective dendritic spine maturation,reduced axonal synaptic vesicles,abnormal synaptic connection,and attenuated long-term synaptic potentiation(LTP).Drp1 activation via ^(S616) phosphorylation rescues deficits of spine maturation in Pink1 KO neurons. | Qingtao Gao Runyi Tian Hailong Han Jesse Slone Caifang Wang Xiao Ke Tongmei Zhang Xiangyu Li Yuhong He Panlin Liao Fang Wang Ye Chen Shiqing Fu Kexuan Zhang Fangfang Zeng Yingxuan Yang Zhuo Li Jieqiong Tan Jiada Li Youming Lu Taosheng Huang Zhonghua Hu Zhuohua Zhang | 2022 | Signal Transduction and Targeted Therapy2022，7，5： | 0 |
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