Results 191 to 200 of about 5,783,756 (283)

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome. [PDF]

BMC Med Genomics, 2023
Shen Y, Lu C, Cheng T, Cao Z, Chen C, Ma X, Gao H, Luo M.   +7 more
europepmc   +1 more source

Mitochondrial SLC25A46 Rewires Fatty Acid Oxidation to Promote Cell Proliferation and Ferroptosis Evasion in Ovarian Cancer by Stabilizing CACT

Advanced Science, EarlyView.
Mitochondrial SLC25A46 is upregulated in ovarian cancer (OC) and correlates with poor prognosis. SLC25A46 stabilizes CACT to activate fatty acid oxidation, increasing ATP and NADPH production to drive cell proliferation and ferroptosis evasion. SLC25A46 silencing sensitizes OC cells to ferroptosis and carboplatin, offering a promising therapeutic ...
Yunge Gao, Jiatao Hao, Xiaohong Zhang, Meiting Long, Yujing Feng, Xiaoyue Liu, Xuejian Li, Shujuan Liu, Xin Guo, Xiaohui Lv   +9 more
wiley   +1 more source

A novel translation initiation codon single nucleotide variant of the SLC14A1 (c.2T>G) from a Chinese blood donor with Jk(a-b-) phenotype. [PDF]

Transfusion
Jiang J, Tian J, Gao Z, Xie L, Zheng J.
europepmc   +1 more source

Association of the ACTN3 Gene's Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals. [PDF]

Genes (Basel), 2023
Balberova OV, Shnayder NA, Bykov EV, Zakaryukin YE, Petrova MM, Soloveva IA, Narodova EA, Chumakova GA, Al-Zamil M, Asadullin AR, Vaiman EE, Trefilova VV, Nasyrova RF.   +12 more
europepmc   +1 more source

RNAi in the Rhizarian Phytopathogen Plasmodiophora brassicae: The Causal Agent of Clubroot Disease in Cruciferous Crops

Advanced Science, EarlyView.
This study uncovers an unusual RNAi pathway in the rhizarian pathogen Plasmodiophora brassicae. In the absence of Dicer, a Drosha‐like RNase III protein supports the biogenesis of predominant 21‐nt small RNAs, and two Argonaute proteins mediate small RNA‐guided silencing.
Xiong Zhang, Yupo Wu, Jiachang Hou, Lixia Gao, Longqi Pan, Cuicui Shen, Chuanji Zhao, Feng Gao, Yi Zhang, Li Ren, Xiaoping Fang, Xiaoling Dun, Shengyi Liu, Lijiang Liu   +13 more
wiley   +1 more source

A novel Dual-guide CRISPR-Cas13 strategy improves specificity for single-nucleotide variant detection. [PDF]

Nucleic Acids Res
Aguilar-González A, Martos-Jamai I, Ramos-Hernández I, Molina-Estévez FJ, Villao NV, Puig-Serra P, Rodríguez-Perales S, Torres R, Labun K, Sánchez-Martín RM, Díaz-Mochón JJ, Martín F.   +11 more
europepmc   +1 more source

PLK2 Single Nucleotide Variant in Gastric Cancer Patients Affects miR-23b-5p Binding. [PDF]

J Gastric Cancer, 2022
Dominkuš PP, Mesic A, Hudler P.
europepmc   +1 more source

Gm26550 Modulates Learning and Memory by Increasing IGF1 mRNA Expression and Stability in Nrf2−/− Mice

Advanced Science, EarlyView.
The present study shows that Nrf2 directly binds to the Gm26550 promoter, thereby activating Gm26550 transcription and increasing its expression. Mechanistically, Gm26550 promotes IGF1 expression by functionally antagonizing miR‐26a‐5p‐mediated repression and sequestering the RBP KHSRP, thereby enhancing hippocampal neuronal synaptic plasticity and ...
Hongfang Wang, Ziyao Wang, Dongyue Zuo, Zhaowen Su, Bowen Song, Jiamin Gao, Yizhou Zhang, Ruiting Zhao, Linjie Sun, Mengdi Li, Yirui Fan, Dandan Geng, Lei Wang   +12 more
wiley   +1 more source

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation. [PDF]

Front Genet
Wang T, Norgan Radler CR, Sathyamoorthy M.   +2 more
europepmc   +1 more source

VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases. [PDF]

Brief Bioinform, 2022
Fang M, Su Z, Abolhassani H, Itan Y, Jin X, Hammarström L.   +5 more
europepmc   +1 more source