Results 111 to 120 of about 207,257 (328)

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

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

Targeting GPX4 to Induce Ferroptosis Overcomes Chemoresistance Mediated by the PAX8‐AS1/GPX4 Axis in Intrahepatic Cholangiocarcinoma

Advanced Science, EarlyView.
PAX8‐AS1 drives chemoresistance in intrahepatic cholangiocarcinoma by activating NRF2‐mediated GPX4 transcription and stabilizing GPX4 mRNA via IGF2BP3. Targeting the PAX8‐AS1/GPX4 axis with a GPX4 inhibitor enhances the efficacy of gemcitabine and cisplatin in preclinical models, offering a promising strategy to overcome chemotherapy resistance in ...
Zhi‐Wen Chen, Ji‐Jun Shan, Mo Chen, Zong Wu, Yi‐Ming Zhao, Hong‐Xu Zhu, Xin Jin, Yi‐Xiu Wang, Yi‐Bin Wu, Zhen Xiang, Zhi‐Wen Ding, Zhen‐Hai Lin, Long‐Rong Wang, Lu Wang   +13 more
wiley   +1 more source

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization [PDF]

, 2017
Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis. Results:
ANGLANI, FRANCA, BERTOLDI, LORIS, BIROLO, GIOVANNI, D'AVANZO, FRANCESCA, DE PASCALE, FABIO, Faulkner, Georgine, FELTRIN, ERIKA, FORCATO, CLAUDIO, NEGRISOLO, SUSANNA, SCHIAVON, RICCARDO, TOMANIN, ROSELLA, VALLE, GIORGIO, VEZZI, ALESSANDRO, VITULO, NICOLA, ZANETTI, ALESSANDRA   +14 more
core   +3 more sources

A Super‐Enhancer‐Driven Transcriptional Regulatory Circuit Underlying Abiraterone Resistance in Castration‐Resistant Prostate Cancer

Advanced Science, EarlyView.
This study identifies a super‐enhancer‐driven transcriptional regulatory circuit comprising BCL6, SMAD3, and NFIB that cooperate to drive cholesterol synthesis via SREBF2/HMGCR/FDFT1 activation and regulate CDK2/CCND3 for cell cycle control. Targeting this circuit with BI‐3802 or downstream inhibitors (Fatostatin/Lovastatin) overcomes abiraterone ...
Liling Jiang, Jiamin Wang, Guanjie Peng, Haichuan Zhang, Jinxin Fang, Yingyin Gao, Enzhe Lou, Yangzhou Liu, Wa Ding, Bingyuan Liu, Qiong Mao, Lizhen Jiang, Aochu Liu, Xinyue Li, Shiwen Hu, Qiaomin Ma, Yueyuan Zheng, Zhigang Zhao, Xianping Shi   +18 more
wiley   +1 more source

Leptin Aggravates Thoracic Aortic Dissection Through Impairment of Energy Metabolism in Nrip2+ Smooth Muscle Cells

Advanced Science, EarlyView.
Epidemiological data confirm obesity elevates thoracic aortic dissection (TAD) risk. Patient analyses implicate hyperleptinemia, where leptin binding to vascular smooth muscle cell (VSMC) receptors triggers Socs3‐mediated suppression of Stat5a transcriptional activity.
Ling Chen, Yujie Zhu, Xi Yang, JiangBin Wu, Keyuan Chen, Wuqing Huang, Lu Fang, Qi Zhang, Jie Chen, Jianing Gao, Huanhuan Cao, Meifang Wu, Zhihuang Qiu, Yuling Zhang, Yue Shen, Qiuyu Huang, Zhiyong Lin, Lemin Zheng, Liangwan Chen   +18 more
wiley   +1 more source

Identification and Drug Screening of Single Cells from Human Tumors on Semiconductor Chip for Cancer Precision Medicine

Advanced Science, EarlyView.
The study innovatively integrates single‐cell electric impedance identification and drug screening on a semiconductor chip, addressing tumor heterogeneity limitations. The system achieves label‐free cancer cell recognition while concurrently evaluating drug efficacy on cancer cells and toxicity on noncancerous cells.
Wenhao Hui, Ka‐Meng Lei, Yingying Liu, Xinru Huang, Yunlong Zhong, Xiaojun Chen, Mingji Wei, Jie Yan, Ren Shen, Pui‐In Mak, Rui P. Martins, Shuhong Yi, Ping Wang, Yanwei Jia   +13 more
wiley   +1 more source

Exome Sequencing of a Multigenerational Human Pedigree

PLoS ONE, 2009
Over the next few years, the efficient use of next-generation sequencing (NGS) in human genetics research will depend heavily upon the effective mechanisms for the selective enrichment of genomic regions of interest. Recently, comprehensive exome capture arrays have become available for targeting approximately 33 Mb or approximately 180,000 coding ...
Dale J, Hedges, Dale, Hedges, Dan, Burges, Eric, Powell, Cherylyn, Almonte, Jia, Huang, Stuart, Young, Benjamin, Boese, Mike, Schmidt, Margaret A, Pericak-Vance, Eden, Martin, Xinmin, Zhang, Timothy T, Harkins, Stephan, Züchner   +13 more
openaire   +4 more sources

Blood Biomarker‐Based Predictive Indicator for Liver Metastasis in Alpha‐Fetoprotein‐Producing Gastric Cancer and Multi‐Omics Tumor Microenvironment Insights

Advanced Science, EarlyView.
Alpha‐fetoprotein‐producing gastric cancer (AFPGC), a rare and aggressive subtype of gastric cancer, presents a high risk of liver metastasis. This study introduces the ANLiM score, a blood biomarker‐based predictive indicator for assessing liver metastasis and immunotherapy response.
Yongfeng Ding, Yiran Chen, Jing Zhang, Qingrui Wang, Songting Zhu, Junjie Jiang, Chao He, Jincheng Wang, Laizhen Tou, Jingwei Zheng, Bicheng Chen, Sizhe Hu, Xiongfei Yu, Haohao Wang, Yimin Lu, Mei Kong, Yanyan Chen, Haiyong Wang, Haibin Zhang, Hongxia Xu, Fei Teng, Xian Shen, Nong Xu, Jian Ruan, Zhan Zhou, Jun Lu, Lisong Teng   +26 more
wiley   +1 more source