Results 161 to 170 of about 159,772 (339)

Positive Feedback Loop of Histone Lactylation‐Driven HNRNPC Promotes Autophagy to Confer Pancreatic Ductal Adenocarcinoma Gemcitabine Resistance

Advanced Science, EarlyView.
Histone 3 lysine18 lactylation (H3K18la) drives heterogeneous nuclear ribonucleoprotein C (HNRNPC) overexpression, activating autophagy to mediate gemcitabine resistance by stabilizing TNF receptor‐associated factor 6 (TRAF6) mRNA. Concurrently, HNRNPC stabilizes aldehyde dehydrogenase 1 family member A3 (ALDH1A3) mRNA, which enhances glycolysis and ...
Xi‐Tai Huang, Jiao Chen, En‐Liang Zhu, Ming‐Jian Ma, Yang‐Yin‐Hui Yu, Ying‐Qin Zhu, Jing‐Yuan Ye, Jin‐Zhao Xie, Zi‐Yi Zhao, Xiao‐Yu Yin   +9 more
wiley   +1 more source

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Molecular Vision, 2019
Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef   +14 more
doaj  

Allelic Variation in Maize Malate Dehydrogenase 7 Shapes Promoter Methylation and Banded Leaf and Sheath Blight Resistance

Advanced Science, EarlyView.
In this study maize chloroplastic malate dehydrogenase7 (ZmMDH7), is identified as a Rhizoctonia solani resistance gene in maize. ZmMDH7 is regulated by transcription factor ZmWRKY44 via pathogens challenge to elevate mitochondrial ROS and SA signaling pathway.
Luyang Wei, Junbin Chen, Chuang Liu, DanDan Liu, Meida Du, Shengfeng He, Wenyu Cheng, Vijai Bhadauria, You‐Liang Peng, Wangsheng Zhu   +9 more
wiley   +1 more source

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect [PDF]

, 2011
Nikolay A. Barashkov, Lilya U. Dzhemileva, С.А. Федорова, Fedor M. Teryutin, Olga L. Posukh, Elvira E. Fedotova, Simeon L Lobov, Э. К. Хуснутдинова   +7 more
openalex   +1 more source

Domestication of Tartary Buckwheat Shaped a Regulatory Module for Seedling Salt Tolerance by Targeting the Magnesium Transporter Gene FtMGT2

Advanced Science, EarlyView.
Domestication of Tartary buckwheat is selected for a salt tolerance mechanism involving the magnesium transporter FtMGT2. Its expression is controlled by the FtAGL16‐FtMYB15L module, which is stabilized under salt stress through a competitive interaction that blocks its degradation by the E3 ligase FtBRG1, ultimately boosting Na⁺ efflux and plant ...
Xiang Lu, Yuqi He, Wenfeng Weng, Zebin Liu, Yuanfen Gao, Yaliang Shi, Wei Li, Dili Lai, Mengyu Zhao, Rintu Jha, Hui Zhao, Guangsheng Li, Chaonan Guan, Shuai Shao, Jingjun Ruan, Sun Hee Woo, Yinan Ouyang, Muriel Quinet, Milen I. Georgiev, Alisdair R. Fernie, Congcong Hou, Kaixuan Zhang, Xu Liu, Meiliang Zhou   +23 more
wiley   +1 more source

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report. [PDF]

Hum Genome Var, 2023
Mashayekhi P, Omrani MD, Tonekaboni SH, Dehghanifard A.   +3 more
europepmc   +1 more source

Splice-Site Mutation [PDF]

, 2020
openaire   +1 more source

Dual Targeting of Mutant p53 and SNRPD2 via Engineered Exosomes Modulates Alternative Splicing to Suppress Ovarian Cancer

Advanced Science, EarlyView.
Mutant p53 drives oncogenic splicing to promote the progression of ovarian cancer by partnering with the spliceosome factor SNRPD2. Therefore, it is engineered iRGD‐exosomes to co‐deliver siRNAs against both targets. This approach restored tumor‐suppressive mRNA isoforms, effectively enhanced sensitivity to cisplatin, and ultimately blocked tumor ...
Wei Zhao, Qian Hao, Yu Gan, Jing Tong, Xiaodan Chen, Shuran Tan, Ruiwen Ruan, Yingdan Huang, Mingming Cao, Jun Deng, Tao Han, Getao Shi, Bo Gao, Yu Zhang, Xiang Zhou   +14 more
wiley   +1 more source

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle. [PDF]

Genet Sel Evol, 2023
Boussaha M, Boulling A, Wolgust V, Bourgeois-Brunel L, Michot P, Grohs C, Gaiani N, Grivaud PY, Leclerc H, Danchin-Burge C, Vilotte M, Rivière J, Boichard D, Gourreau JM, Capitan A.   +14 more
europepmc   +1 more source

Identification of a novel splice‐site mutation in the CYP1A2 gene [PDF]

, 2003
Delphine Allorge, Dany Chevalier, Jean‐Marc Lo‐Guidice, Christelle Cauffiez, Françoise Suard, Pierre Baumann, Chin B. Eap, Franck Broly   +7 more
openalex   +1 more source