Results 201 to 210 of about 83,578 (286)

SF3A3 Drives Tumorigenesis in Endometrial Cancer by Enhancing c‐FOS Expression and Represents a Potential Therapeutic Target

Advanced Science, EarlyView.
The role of splicing factor 3A subunit 3 (SF3A3) in driving endometrial cancer (EC) progression and potential therapeutic interventions. SF3A3, a core component of the U2 small nuclear ribonucleoprotein (U2 snRNP), is upregulated in endometrial cancer (EC) and promotes tumor growth and cisplatin resistance. RNA‐binding protein immunoprecipitation (RIP)
Wei Yu, Yi Gu, Hengrui Zhang, Wunan Huang, Lei Sun, Liangjian Ma, Xiaolei Liang, Lexin Liu, Guiping Chen, Weihua Wang, Zhongkai Cao, Xue Li, Xiangjun Chen, Lidan Hu   +13 more
wiley   +1 more source

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]

Biochem Genet
Zhang C, Qiao F, Cheng Q, Luo C, Zhang Q, Hu P, Xu Z.   +6 more
europepmc   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency [PDF]

, 2002
Haruo Hanawa
openalex   +1 more source

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy. [PDF]

J Ophthalmic Vis Res
Molaei Ramshe S, Zardadi S, Alehabib E, Nourinia R, Jamshidi J, Soosanabadi M, Darvish H.   +6 more
europepmc   +1 more source

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency [PDF]

, 2002
Consuelo Climent, Vicente Rubio
openalex   +1 more source

Intestinal Clock Promotes Cognitive Memory Through Adenosine Signaling

Advanced Science, EarlyView.
The intestinal clock controls the expression of an adenosine enzyme that modulates systemic adenosine level and A1R signaling in the hippocampus, and in turn, cognitive function involving long‐term potentiation and BDNF‐dependent synaptic changes.
Min Chen, Fugui Zhang, Yifei Xiao, Xuejun Jiang, Zhiqian Yan, Jinyi Wang, Xiting Lv, Jialu Cui, Linna Ha, Hui Chen, Yongkang Dang, Zifei Qin, Jing Yang, Baojian Wu   +13 more
wiley   +1 more source

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome. [PDF]

Front Oncol, 2020
Li J, Li Y, Ni H, Yang Z, Chen J, Li Y, Ding S, Jiang X, Wang M, Li L, Lv X, Ruan X, Jiang Q, Lei Z, Cheng Y, Huang J, Deng A.   +16 more
europepmc   +1 more source

Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation. [PDF]

Epilepsy Behav Rep, 2021
Desai KM, Kumar P, Ravat PS, Ravat SH, Jain N, Agrawal S, Ansari R.   +6 more
europepmc   +1 more source

GmSop20 Functions as a Key Coordinator of the Oil‐To‐Protein Ratio in Soybean Seeds

Advanced Science, EarlyView.
This study investigates the seed oil‐to‐protein ratio as a comprehensive quality metric and identifies GmSop20 as a crucial regulatory gene through forward genetics methodologies. By integrating GmSop20 with superior haplotypes and using gene editing/overexpression, new strategies are provided for precisely tuning the seed oil‐to‐protein ratio, thereby
Haowei Zheng, Xinkang Feng, Longlong Wang, Wentao Shao, Shiyu Guo, Duo Zhao, Jiajia Li, Long Yan, Long Miao, Bincheng Sun, Huihui Gao, Hongmei Qiu, Yu Hu, Linlin Kong, Robert M. Stupar, Ying‐hui Li, Li‐juan Qiu, Xiaobo Wang   +17 more
wiley   +1 more source