Results 141 to 150 of about 419,485 (330)

NOX2 Contributes to High‐Frequency Outer Hair Cell Vulnerability in the Cochlea

Advanced Science, EarlyView.
This study first identifies NOX2 as a differentially expressed gene related to oxidative damage in the apical and basal turns through single‐cell RNA sequencing. NOX2 gene knockout mitigates OHCs damage caused by neomycin and noise and enhances Nrf2 expression and nuclear translocation.
Meihao Qi, Zejun Gao, Yang Qiu, Renfeng Wang, Keyong Tian, Bo Yue, Xinyu Zhang, Peng Zhang, Ziqi Wu, Qingwen Zhu, Zhenzhen Liu, Zhuoyao Ma, Xueying Zhou, Yu Han, Jun Chen, Jianhua Qiu, DingJun Zha   +16 more
wiley   +1 more source

EGR1 Promotes Craniofacial Bone Regeneration via Activation of ALPL⁺PDGFD⁺ Periosteal Stem Cells

Advanced Science, EarlyView.
ALPL+PDGFD+ (AP+) cells are distinct calvarial periosteal stem cells (PeSCs) with diminished postnatal activity. EGR1 drives PeSCs development via BMP signaling through its Znf2 domain and activates them via CTNNB1/WNT10B signaling through its Znf2/3 domains.
Yang Li, Dazhuang Lu, Fanqing Xu, Jun Yang, Dong Li, Chenlong Yang, Xin Chen, Xu Wang, Jia Qing, Hui Zhang, Yingfei Zhang, Fuchou Tang, Jie Qiao, Ophir D. Klein, Ping Zhang, Yongsheng Zhou   +15 more
wiley   +1 more source

Nucleotide sequence of the human c-myc locus: provocative open reading frame within the first exon. [PDF]

, 1984
Claude Gazin, S. Dupont de Dinechin, A Hampe, Jean‐Yves Masson, Patrick Martin, D. Stéhelin, Francis Galibert   +6 more
openalex   +1 more source

LRRC8A Regulates Outer Hair Cell Volume and Electromotility and is Required for Hearing

Advanced Science, EarlyView.
This study identifies LRRC8A‐dependent volume‐regulated anion channels (VRACs) as essential for cochlear outer hair cells' electromotility and auditory signal amplification. LRRC8A deficiency disrupts cell volume control, impairs auditory sensitivity, and causes deafness, while targeted LRRC8A re‐expression restores auditory function.
Shengnan Wang, Yuehui Xi, Qiaojun Fang, Sai Shi, Fei Wang, Fuyu Xian, Zhongyang Zhang, Yuxin Yang, Xishuo Jin, Xiaomin Wang, Chen Cao, Hailin Zhang, Nikita Gamper, Zhigang Xu, Haitao Shen, Ping Lv   +15 more
wiley   +1 more source

MSIQ: Joint Modeling of Multiple RNA-seq Samples for Accurate Isoform Quantification

, 2017
Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling us to better ...
Li, Jingyi Jessica, Li, Wei Vivian, Zhang, Shihua, Zhao, Anqi   +3 more
core   +2 more sources

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source

Self-splicing of a group II intron in yeast mitochondria: dependence on 5′ exon sequences. [PDF]

, 1987
Renske M. van der Veen, A.C. Arnberg, Les Grivell   +2 more
openalex   +1 more source

Designer Exons Inform a Biophysical Model for Exon Definition

, 2013
Pre-mRNA molecules in humans contain mostly short internal exons flanked by long introns. To explain the removal of such introns, recognition of the exons instead of recognition of the introns has been proposed. This thesis studies this exon definition mechanism using a bottom-up approach.
openaire   +3 more sources

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a various collection of heart diseases with autosomal dominant inheritance affecting 0.2% of the global population.
Behnaz Sadat Abedi, Seyedeh Zohreh kiyani, Morteza Hashemzadeh Chaleshtori, Shahrbanoo Parchami, Abbas Doosti   +4 more
doaj