Results 121 to 130 of about 3,322,892 (202)

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract [PDF]

, 2018
Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant (AD) posterior nuclear cataract in a four generation British family ...
Plagnol, V, Moore, AT, Albarca-Aguilera, M, Michaelides, M, Massouras, A, Berry, V, Pontikos, N, Prescott, D, Cheetham, ME, Arno, G   +9 more
core   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

An engineered U1 snRNP redefines SMN1 exon 7 carrying a pathogenic mutation at the splice donor site [PDF]

, 2016
The human genome has two copies of the Survival Motor Neuron (SMN) gene, SMN1 and SMN2. The absence of SMN1 results in spinal muscular atrophy (SMA), a leading genetic disease among infants and children.
Del Rio-Malewski, José
core  

circZNF148 Drives Glucose Metabolism Reprogramming to Enhance Metastasis and Immune Evasion via HK1 Stabilization in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
CircZNF148 stabilizes HK1 through deubiquitinase recruitment, thereby enhancing glycolysis and lactate production. Elevated lactate promotes PD‑L1 lactylation and membrane accumulation while suppressing CD8+ T‐cell cytotoxicity, collectively facilitating immune evasion and malignant progression in TNBC.
Yuhan Jin, Wenjing Zhao, Lei Wang, Jianing Wang, Keying Zhao, Dan Luo, Yifei Wang, Yuxia Yang, Jingze Yang, Yaming Li, Tong Chen, Dianwen Han, Zekun Wang, Xiaoyan Li, Bing Chen, Lijuan Wang, Yiran Liang, Qifeng Yang   +17 more
wiley   +1 more source

Novel donor splice site mutation in the KvLQT1 gene is associated Long QT syndrome

, 1998
Introduction: Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents ...
Agner, Erik, Agner, E., Andersen, P.S., Vuust, Jens, Christiansen, M., Orholm, M., Larsen, L.A., Kanters, Jørgen K., Orholm, Marianne, Christiansen, Michael, Larsen, Lars Allan, Andersen, Paal Skytt, Vuust, J.   +12 more
core   +1 more source

EP300‐Mediated MTF1‐K218 Lactylation Buffers AR‐Driven Copper Overload to Suppress Cuproptosis in Castration‐Resistant Prostate Cancer

Advanced Science, EarlyView.
Androgen receptor (AR) drives copper accumulation in prostate cancer while inducing MTF1 to buffer copper toxicity. EP300‐mediated lactylation of MTF1 at K218 promotes its nuclear translocation and metallothionein expression, sequestering cytosolic copper and preventing mitochondrial cuproptosis.
Kai Li, Yong Wei, Yongshan Li, Yuxiang Dong, Jiancheng Lv, Mingzhi Yuan, Ao Shen, Fuyang Liu, Yetao Zhang, Youjian Li, Ruixi Yu, Yang Liu, Tong Zhao, Jun Wang, Kai Zhou, Zongyao Fan, Manning Wang, Jun Xu, Mulong Du, Min Gu, Bing Yao, Qingyi Zhu   +21 more
wiley   +1 more source

Endothelial miR‐15a/16‐1 Regulation of SYNE1 Mediates Structural and Functional Recovery after Traumatic Brain Injury

Advanced Science, EarlyView.
Endothelial miR‐15a/16‐1 deletion promotes long‐term recovery after traumatic brain injury by restoring SYNE1 expression. Enhanced endothelial SYNE1 preserves vascular integrity, protects white and gray matter, and improves neurological function. The endothelial miR‐15a/16‐1–SYNE1 axis emerges as a key regulator of neurovascular repair and a potential ...
Shun Li, Na Qiu, Chao Zhou, Andrew Ni, Ping Sun, Jia‐Jun Liu, Xin‐Lei Huang, Tian‐Qing Xiong, Yu‐Chi Zhang, Hai‐Zhou Liu, Xiao‐Tao Xu, Rui Wang, Shi‐Qing Zhang, Yu‐Xin Zhang, Silvia Liu, C. Edward Dixon, Jun Chen, Ke‐Jie Yin   +17 more
wiley   +1 more source

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

Advanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li, Jiao Qiao, Qiuyuan Zhang, Peipei Liu, Chenjun Zheng, Qi Zhou, Mengqi Ji, Zhihui Zhu, Xiaoxue Li, Hongyu Zhang   +9 more
wiley   +1 more source

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

, 2015
We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866 + 1G > A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing.
Matsui Naoko, Mori Atsuko, Orlacchio Antonio, Izumi Yuishin, Kaji Ryuji, Miyazaki Yoshimichi, Kawarai Toshitaka, Oki Ryosuke, Nishida Yoshihiko, Miyamoto Ryosuke, Tsukamoto-Miyashiro Ai   +10 more
core   +1 more source

WTAP Transcriptional Suppression by KLF9 Drives Osteoclastogenesis via M6A‐Mediated Regulation of CSF1R Signaling in Estrogen‐Deficient Osteoporosis

Advanced Science, EarlyView.
Scheme of the KLF9/WTAP/YTHDF2/m6A/CSF1R regulatory axis in osteoclastogenesis and estrogen‐deficient osteoporosis. WTAP‐mediated m6A modification of Csf1r mRNA governs osteoclastogenesis via a YTHDF2‐mediated pathway. Pathological upregulation of KLF9 drives Wtap transcription, leading to increased m6A deposition on the 3’‐UTR of Csf1r mRNA.
Chen Shen, Xin Liu, Gaoran Ge, Li Xu, Ziyu Zhang, Chang Lv, Hao Xu, Wenhao Li, Yi Qin, Qifeng Sheng, Qihan Wang, Hongxia Li, Jun Zhou, Huilin Yang, Dechun Geng   +14 more
wiley   +1 more source