Results 221 to 230 of about 159,772 (339)

NUDT21‐mediated Alternative Polyadenylation of CDK19 Reprograms Cholesterol Biosynthesis to Drive Colorectal Cancer Progression

Advanced Science, EarlyView.
NUDT21 is overexpressed in colorectal cancer tumors and promotes colorectal cancer progression. NUDT21 promotes the production of a cyclin‐dependent kinase 19 (CDK19) mRNA isoform with a long 3′ UTR, which enhances cytoplasmic export and translation. Truncation of the CDK19 long 3′ UTR phenocopies NUDT21 loss, recapitulating the defects in cholesterol ...
Yeping Yu, Jixin Ma, Minwei Zhou, Xiaodong Gu, Yiming Zhou, Zhenyang Li, Tianyu Zhang, Wei Gong, Chuanxin Huang, Jianbin Xiang   +9 more
wiley   +1 more source

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency. [PDF]

Genes Dis
Ding F, Zhang H, Liu X, Lei L, Zhang H, Liu Z, Fang M, Lu S.   +7 more
europepmc   +1 more source

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. [PDF]

Clin Genet, 2022
Canpolat N, Liu D, Atayar E, Saygili S, Kara NS, Westfall TA, Ding Q, Brown BJ, Braun TA, Slusarski D, Karli Oguz K, Ozluk Y, Tuysuz B, Tastemel Ozturk T, Sever L, Sezerman OU, Topaloglu R, Caliskan S, Attanasio M, Ozaltin F.   +19 more
europepmc   +1 more source

A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with variation in flowering time

, 2009
Yuxiang Yuan, Jian Wu, Rifei Sun, Xiao-Wei Zhang, Donghui Xu, Guusje Bonnema, Xiaowu Wang   +6 more
openalex   +2 more sources

Reply to BRCA2 splice site mutations in an Italian breast/ovarian cancer family [PDF]

, 2009
Matilde Pensabene, Ilaria Spagnoletti, I. Capuano, Caterina Condello, Stefano Pepe, Alma Contegiacomo, Giovanni Lombardi, Generoso Bevilacqua, Maria A. Caligo   +8 more
openalex   +1 more source

Tumor Extracellular Vesicles lncOSLMT Drives Lung Inflammatory Premetastatic Niche Formation in Osteosarcoma via m6A‐Dependent hnRNPA2B1/COX‐2 Axis

Advanced Science, EarlyView.
Tumor‐derived extracellular vesicles program inflammatory lung premetastatic niches through selective delivery of long noncoding RNAs. This work reveals EVs‐associated lncOSLMT as a key driver of lung fibroblast activation via m6A‐dependent PTGS2 stabilization.
Hongbo Li, Zehao Guo, Yutong Zou, Jiongfeng Zhang, Jixiang Shi, Xihong Fu, Jian Tu, Hao Yao, Xuanxuan Lu, Lili Wen, Xianbiao Xie   +10 more
wiley   +1 more source

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation. [PDF]

J Transl Med
Luo M, Wang Y, Liang J, Wan X.
europepmc   +1 more source

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome. [PDF]

Front Pediatr, 2021
Li L, Bu X, Ji Y, Tan P, Liu S.
europepmc   +1 more source

Gut Microbe‐Driven Resistance Mechanisms in Propylea Japonica: Insights from Horizontal Gene Transfer and Oxidative Phosphorylation

Advanced Science, EarlyView.
Acinetobacter regulates dinotefuran tolerance in Propylea japonica by mediating the expression of the horizontally transferred gene PjDUF1. Abstract Insect–microbial symbiont relationships are widespread in nature and often involve lateral gene transfer.
Ningbo HuangFu, Xiangzhen Zhu, Zhijuan Tang, Li Wang, Kaixin Zhang, Dongyang Li, Jichao Ji, Jinjie Cui, Zhaojiang Guo, Junyu Luo, Xueke Gao   +10 more
wiley   +1 more source

Clinical and Genetic Characterization of Factor XI Deficiency in Jordan: Identification of a Novel Splice-Site Mutation Associated with Severe Deficiency. [PDF]

Clin Appl Thromb Hemost
Al-Fararjeh F, Al-Aqrabwi S, Al-Nazer F, Al-Shorman A, Al-Hyari S, Mahmoud L, Neqresh O, Abbasi L, Abuelsamen T, Awidi A.   +9 more
europepmc   +1 more source