Results 121 to 130 of about 261,179 (217)

Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment. [PDF]

RNA Biol
Singh NN, Ottesen EW, Singh RN.
europepmc   +1 more source

Natural Variation of COLD and CATECHINS REGULATOR 1 Coordinately Fine‐Tunes Cold Tolerance and Tea Quality in Tea Plants

Advanced Science, EarlyView.
Multi‐trait genome‐wide association mapping identifies a central hub regulator, COLD AND CATECHINS REGULATOR 1 (CCR1), and its excellent natural allele variation, coordinately enhancing cold tolerance and promoting catechins biosyntheis. CsCCR1 interacts with CsCBF1/3 and is transcriptionally activated by CsLUX and CsKUA1 to promote catechins ...
Yanli Wang, Wei Tong, Qiong Wu, Didi Wu, Yanrui Zhang, Qijuan Gao, Fangdong Li, Zhaoliang Zhang, Wenjie Wang, Chuankui Song, Enhua Xia   +10 more
wiley   +1 more source

Novel African American Colorectal Cancer <i>MSH3</i> Variants Associate With Major Genomic Instability. [PDF]

Hum Mutat
Rashid M, Brim H, Teng S, Sobitan A, Cruz-Cosme R, Qiyi T, Koi M, Casazza K, Surtees JA, Carethers JM, Ashktorab H.   +10 more
europepmc   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Alu-mediated RNA duplexes are associated with widespread exon skipping across primate transcriptomes. [PDF]

Genome Biol
Lee H, Cao X, Parada GE, Li JD, Iosub IA, Braunschweig U, Rebelo K, Ule J, Wan Y, Blencowe BJ.   +9 more
europepmc   +1 more source

eEF1G Orchestrates Translation to Ensure Meiotic Progression in Transcriptionally Quiescent Spermatocytes

Advanced Science, EarlyView.
eEF1G supports translation elongation of meiotic mRNAs in transcriptionally quiescent leptotene and zygotene spermatocytes. Its depletion in germ cells causes meiotic arrest at the zygotene stage, with defective homologous synapsis and unstable recombination intermediates.
Jianze Xu, Yuwei Hu, Xukun Lu, Yuling Cai, Tongtong Li, Ming Gao, Jinlong Ma, Yuan Gao, Shangming Liu, Zi‐Jiang Chen, Jing Meng, Hongbin Liu, Xiaohua Jiang   +12 more
wiley   +1 more source

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder. [PDF]

Neurol Genet
Sabbagh Q, Villa Tobón F, Kazemi Z, Lentini L, Dilenge ME, Buhas D, Pastinen T, Thiffault I, Bernard G.   +8 more
europepmc   +1 more source

ZER1 Restrains Pressure Overload‐Induced Cardiac Remodeling by Targeting DVL2 for Gly/N‐Degron‐Dependent Degradation

Advanced Science, EarlyView.
Pressure overload suppresses cardiomyocyte ZER1, weakening CRL2Zer1‐mediated DVL2 degradation and allowing DVL2 accumulation. Elevated DVL2 activates CaMKII‐HDAC4‐MEF2C signaling, drives fetal gene reactivation, and promotes pathological remodeling.
Mingchao Jiang, Zhehao Lin, Lu Chen, Ying Ni, Jun Zhou, Wenjuan Zhang, Huilin Wang, Peifeng Ying, Xiu Lu, Kai Wang, Qingran Kong, Naxin Xu, Dingsheng Zhao, Jianwei Li, Guohui Zhong, Xingchen Meng, Sarkawt Hamad, Junmeng Zheng, Yuan Fu, Rongjiang Qin, Xuran Chu, Shangxuan Li, Youyou Li, Yili Wu, Yi Wang, Weihong Song, Yingxian Li, Shukuan Ling   +27 more
wiley   +1 more source

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]

Front Pediatr
Li N, Lu C, Gu HF, An X.
europepmc   +1 more source

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source