SPLICING

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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 
RNA-binding motif protein RBM39 enhances the proliferation of gastric cancer cells by facilitating an oncogenic splicing switch in MRPL33
《Acta Pharmacologica Sinica》2025年第4期1068-1081,共14页Cheng-piao Lu Jia-bin Li Dong-bao Li Yu-hong Wang Xiao-gang Jiang Jing-jing Ma Guoqiang Xu 
supported by the National Natural Science Foundation of China(32171437);the National Key R&D Program of China(2019YFA0802401);the Natural Science Foundation of the Jiangsu Higher Education Institutions of China(22KJB310017);Suzhou Science and Technology Development Project(SZM2023006);Gusu Key Health Talent Program of Suzhou(GSWS2022122);the Young Physician Scientists Program(ML42900323);Interdisciplinary Basic Frontier Innovation Program(YXY2302015)at Suzhou Medical College of Soochow University;the National Center for International Research(2017B01012);the Jiangsu Key Laboratory of Neuropsychiatric Diseases(BM2013003);a project funded by the Priority Academic Program Development(PAPD)of Jiangsu Higher Education Institutions.
Gastric cancer is a malignant gastrointestinal disease characterized by high morbidity and mortality rates worldwide.The occurrence and progression of gastric cancer are influenced by various factors,including the abn...
关键词：RBM39 MRPL33 gastric cancer PROLIFERATION alternative splicing 
Splicing defect of StDRO2 intron 1 promotes potato root growth by disturbing auxin transport to adapt to drought stress
《Horticultural Plant Journal》2025年第2期706-720,共15页Jianping Zhao Baolin Yao Ziai Peng Xinyue Yang Kuixiu Li Xiaoyan Zhang Haiyan Zhu Xuan Zhou Meixian Wang Lihui Jiang Xie He Yan Liang Xiaoping Zhan Xiaoran Wang Yuliang Dai Yanfen Yang Ao Yang Man Dong Suni Shi Man Lu Yi Zhao Mingyun Shen Liwei Guo Changning Liu Hongji Zhang Decai Yu Yunlong Du 
supported by grants from the National Natural Science Foundation of China(Grant Nos.32260085,31860064,31660501,31970609,32260718 and 31901870);the Key Projects of the Applied Basic Research Plan of Yunnan Province(Grant No.202301AS070082);the Start-up fund from Xishuangbanna Tropical Botanical Garden,the‘Top Talents Program in Science and Technology’from Yunnan Province,the Major Science and Technology Project in Yunnan Province(Grant Nos.202102AE090042 and 202202AE090036);the Young and Middle-Aged Academic and Technical Leaders Reserve Talent Program in Yunnan Province(Grant No.202205AC160076);China Postdoctoral Science Foundation(Grant No.2019M653849XB);the High-level Talents Introduction Plan of Yunnan Province-Young Talents Special Project。
The formation of root system architecture(RSA)plays a crucial role in plant growth.OsDRO1 is known to have a function in controlling RSA in rice,however,the role of potato StDRO2,a homolog of rice OsDRO1,in root growt...
关键词：POTATO Root system architecture StDRO2 Drought stress Auxin SPLICING MicroRNA 
A barley SS2a single base mutation at the splicing site leads to obvious changes in starch
《Journal of Integrative Agriculture》2025年第4期1359-1371,共13页Bang Wang Jing Liu Xiaolei Chen Qiang Xu Yazhou Zhang Huixue Dong Huaping Tang Pengfei Qi Mei Deng Jian Ma Jirui Wang Guoyue Chen Yuming Wei Youliang Zheng Qiantao Jiang 
supported by the Major Program of National Agricultural Science and Technology of China(NK20220607);the Sichuan Science and Technology Program,China(2023YFH0041)。
Starch biosynthesis is a complex process that relies on the coordinated action of multiple enzymes.Resistant starch is not digested in the small intestine,thus preventing a rapid rise in the glycemic index.Starch synt...
关键词：BARLEY EMS mutagenesis starch synthase 2a splicing site mutation starch property resistant starch 
PPR21 is involved in the splicing of nad2 introns via interacting with PPR-SMR1 and SPR2 and is essential to maize seed development
《Journal of Genetics and Genomics》2025年第3期379-387,共9页Yan-Zhuo Yang Xin-Yuan Liu Song Gao Shu-Guang Zhang Bao-Cai Tan 
supported by the National Natural Science Foundation of China(32072126 and 32230075);the Shandong Provincial Natural Science Foundation(ZR2019MC005).
Pentatricopeptide repeat(PPR)proteins are a large group of eukaryote-specific RNA-binding proteins that play pivotal roles in plant organelle gene expression.Here,we report the function of PPR21 in mitochondrial intro...
关键词：Intron splicing Maize(Zea mays) MITOCHONDRION PPR21 Seed development Small MutS-related domain-containing PPR protein 1(PPR-SMR1) SPR2 
KHSRP promotes cancer stem cell maintenance,tumorigenesis,and suppresses anti-tumor immunity in gastric cancer
《Oncology Research》2025年第2期309-325,共17页YARU DU ZHIHUI PEI SHUQIN HU CHUANWEN LIAO SHUHAO LIU 
Supported by the Jiangxi Provincial Health Technology Project(No.202130037 to CWL);was also sponsored by the Jiangxi Provincial Health Technology Project(No.202410009 to SHL)。
Objectives:KH-type splicing regulatory protein(KHSRP)is an RNA-binding protein involved in several cellular processes,including nuclear splicing,mRNA localization,and cytoplasmic degradation.While KHSRP’s role has be...
关键词：KH-type splicing regulatory protein(KHSRP) Gastric cancer(GC) Cancer stem cell TUMORIGENESIS 
A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops
《Genes & Diseases》2024年第6期107-110,共4页Wei Hou Guifang Huang Hongyu Wei Wenwei Li Houfeng Huang Yuling Qiu Hengying Zhu Huifeng Han Ping Chen Xue Zhang 
funded by the Guangxi Science and Technology Department (China) (No.Guike AD23026025).
Fetal hydrops is a rare but serious fetal developmental abnormality characterized by the abnormal accumulation of large amounts of fluid in the fetus resulting in generalized edema,and clinically manifested by abnorma...
关键词：FETAL ORGANS FETUS 
A decoy receptor derived from alternative splicing fine-tunes cytokinin signaling in Arabidopsis
《Molecular Plant》2024年第12期1850-1865,共16页Michaela Králová Ivona Kubalová Jakub Hajný Karolina Kubiasová Karolína Vagaská Zengxiang Ge Michelle Gallei Hana Semerádová Anna Kuchařová Martin Hönig Aline Monzer Martin Kovačik JiříFriml Ondřej Novák Eva Benková Yoshihisa Ikeda David Zalabák 
Czech Science Foundation via project 23-07363S(to D.Z.,J.H.,K.V.,and O.N.);Scientific Service Units(SSU)of ISTA through resources provided by the Imaging and Optics Facility and the Life Science Facility.
Hormone perception and signaling pathways have a fundamental regulatory function in the physiological processes of plants.Cytokinins,a class of plant hormones,regulate cell division and meristem maintenance.The cytoki...
关键词：SPLICING ARABIDOPSIS DECOY 
The HD-Zip transcription factor LcATHB15 is involved in litchi seed development by promoting the expression of the splicing regulator LcSR45
《Horticultural Plant Journal》2024年第6期1463-1466,共4页Hanhan Xie Fei Wang Zidi He Zhijian Liang Jianguo Li Minglei Zhao 
supported by grants from the Laboratory of Lingnan Modern Agriculture Project (Grant No.NZ NT2021004);China Litchi and Longan Industry Technology Research System (Grant No.CARS-32-07)。
Litchi (Litchi chinensis Sonn.) is a well-known tropical and subtropical woody fruit that originated from southern China (Wei et al.,2017;Hu et al.,2022).Based on the development of the embryo,litchi varieties can be ...
关键词：CULTIVAR originated development 
XBP1 splicing contributes to endoplasmic reticulum stress-induced human islet amyloid polypeptide up-regulation
《Genes & Diseases》2024年第5期350-359,共10页Yun Zhang Susan Lin Jing Yao Wantong Cai Huaqiu Chen Ailikemu Aierken Zhe Wang Weihong Song 
This work was supported by the National Natural Science Foundation of China(No.82201576);Beijing Hospitals Authority Youth Programme(China)(No.QML20210804);Beijing Medical Research 2021-8;Key Laboratory of Alzheimer's Disease of Zhejiang Province of China(No.ZJAD-2021004 to YZ);the National Natural Science Foundation of China(No.82230043 to WS).
As a pathological hallmark of type 2 diabetes mellitus(T2DM),islet amyloid is formed by the aggregation of islet amyloid polypeptide(IAPP).Endoplasmic reticulum(ER)stress interacts with IAPP aggregates and has been im...
关键词：b-cell function Endoplasmic reticulum stress Islet amyloid polypeptide Type 2 diabetes mellitus XBP1 
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