EXON

作品数:161被引量:414H指数:11
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相关领域:医药卫生生物学更多>>
相关作者:贾天军赵铁军张庶民李萍金鑫燕更多>>
相关机构:河北北方学院中国药品生物制品检定所青海大学南京军区福州总医院更多>>
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相关基金:国家自然科学基金国家高技术研究发展计划河北省自然科学基金国家科技支撑计划更多>>
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The abnormal splicing regulation network caused by synonymous mutations in FBN1 exon 39 leads to Marfan syndrome
《Genes & Diseases》2025年第3期4-6,共3页Fudan Wu Mingjie Li Xuan Zhou Qianyun Wang Yan’an Wu 
supported by the Fujian Provincial Health Technology Project(China)(No.2023QNA016);the Guidance in Medical and Health Program of Xiamen,China(No.3502Z20209120);Scientific Research Foundation for Advanced Talents,Xiang’an Hospital of Xiamen University(China)(No.PM201809170018).
Mutations in fibrillin-1 gene(FBN1)have been shown to be associated with Marfan syndrome and most FBN1 mutations display missense or nonsense.Recently,reports on synonymous mutation-related diseases have attracted wid...
关键词:Marfan syndrome marfan syndrome splicing regulation abnormal splicing synonymous mutation synonymous mutations FBN saccharomyces cerevisiae 
NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression被引量:1
《Neural Regeneration Research》2022年第11期2530-2536,共7页Li-Li Du Jun-Jie Sun Zhi-Heng Chen Yi-Xiang Shao Liu-Cheng Wu 
the National Natural Science Foundation of China,No.32000841(to JJS);a grant from Science and Technology Project of Nantong of Jiangsu Province,No.JC2018090(to LCW);a grant from Graduate Research and Innovation Project of Jiangsu Province,No.KYCX18-2415(to LLD)。
Spinal muscular atrophy(SMA)is a rare hereditary neuromuscular disease with a high lethality rate in infants.Variants in the homologous genes survival of motor neuron(SMN)1 and SMN2 have been reported to be SMA pathog...
关键词:exon 7 inclusion motor neuron neuro-oncological ventral antigen 1 SMN2 splicing spinal cord spinal muscular atrophy splicing factors UCAC motif 
Targeted editing of intronic-splicing silencer enhancement of SMN2 Exon 7 inclusion by CRISPR/Case 9
《BIOCELL》2021年第6期1501-1507,共7页LIUCHENG WU YI WANG LILI DU GUIQING JI RUI ZHOU ZEYI ZHAO JUN CHEN SHUNXING ZHU 
Nantong Science and Technology Program,grant number(JC2018090);the Practice Innovation Training Program Projects for the Jiangsu College Students,grant number(201810304028z);the Scientific Innovation Research of College Graduates in Jiangsu Province,grant number(KYCX18-2415)。
Spinal muscular atrophy(SMA)is an autosomal recessive hereditary neuromuscular disease.Exon 7 and 8 of survival of motor neuron 1(SMN1)gene or only exon 7 homology deletion leads to the failure to produce a full-lengt...
关键词:Spinal muscular atrophy ISS sequence sgRNA HSMN2 CRISPR/Case 9 Inclusion of Exon 7 SMN2 full length 
Fuzzy splicing in precursor-mRNA sequences: prediction of aberrant splice-junctions in viral DNA context
《Journal of Biomedical Science and Engineering》2011年第4期272-281,共10页Perambur S. Neelakanta Sharmistha Chatterjee Mirjana Pavlovic Abijit Pandya Dolores de Groff 
RNA splicing normally generates stable splice- junction sequences in viruses that are important in the context of virus mimicry. Potential variability in envelop proteins may occur with point-mutations inducing crypti...
关键词:DNA Exon/intron Aberrant/Cryptic Splice–Junction MRNA Sequence FUZZY Subspace Spatial SNR 
Exon structure requirements for yeast tRNA ligase
《Science China(Life Sciences)》1997年第6期665-669,共5页刘建华 金由辛 王德宝 
Project supported by the National Natural Science Foundation of China and Shanghai Research Center of Life Sciences, Chinese Academy of Sciences.
Different nucleotides were introduced into nucleotides 32, 37 and 38 of yeast tRNAphe precursors via oligonucleotide directed mutations. Pre-tRNAs were prepared using T7-transcription in vitro and spliced with the pur...
关键词:pre-tRNAs SPLICING TRNA ENDONUCLEASE TRNA ligase. 
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