Results 91 to 100 of about 554,185 (237)

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels. [PDF]

, 2018
BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations.
Chan, Tsun L, Domchek, Susan M, Esserman, Laura J, Field, Michael, Ford, James M, Ho, John CW, Kurian, Allison W, Kwong, Ava, Lin, Po-Han, Lo, Jessica, Ma, Edmond SK, Ngan, Hextan YS, Shin, Vivian Y, Tai, Edmund, Weitzel, Jeffery N   +14 more
core  

Microbiome Single Cell Atlases Generated with a Commercial Instrument

Advanced Science, EarlyView.
Single cell sequencing is valuable for dissecting complex systems and uncovering unique features in individual cell types. However, tools for single cell microbial analysis are limited. Easily Accessible Single microbe sequencing (EASi‐seq), which adapts a commercially available single cell platform for efficient sequencing of single microbial genomes ...
Xiangpeng Li, Linfeng Xu, Benjamin Demaree, Cecilia Noecker, Jordan E. Bisanz, Daniel W. Weisgerber, Cyrus Modavi, Peter J. Turnbaugh, Adam R. Abate   +8 more
wiley   +1 more source

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

Advanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du, Jun Huang, Aizhen Zhang, Fangfang Zhao, Tianwen Chen, Quinn M. McDermott, Tony Zheng, Haibo Wang, Rongli Zhang, Xiaolin Zhang, Jerome Allison, Hong Zhu, Wu Zhou, Qing Yin Zheng   +13 more
wiley   +1 more source

Development and Validation of Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease

Advanced Science, EarlyView.
This study constructs a stacked multimodal machine learning model for nonalcoholic fattly liver disease (NAFLD) by integrating genetic and clinical features, and synthesize an in‐silico quantitative marker (ISNLD) that enables personalized risk stratification for intrahepatic and extrahepatic outcomes of high‐risk individuals of NAFLD.
Lushan Xiao, Lin Zeng, Jiaren Wang, Chang Hong, Ziyong Zhang, Chengkai Wu, Hao Cui, Yan Li, Ruining Li, Shengxing Liang, Qijie Deng, Wenyuan Li, Xuejing Zou, Pengcheng Ma, Li Liu   +14 more
wiley   +1 more source

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation

Advanced Science, EarlyView.
By studying the maturation mechanisms of vasopressin (AVP), this manuscript identifies FAM134B‐mediated ER‐phagy as a critical pathway for degrading both aggregated proAVP and the key ERAD component, HRD1. HRD1 induction mitigates proAVP aggregation and support AVP neuron function in the absence of autophagy.
Xuya Pan, Xing He, Su Wu, Na Xiong, Xinyu Hou, Heting Wang, Diane Somlo, Martin Spiess, Haiyang Wang, Jifeng Yang, Chunliang Li, Shasha Li, Wenbin Ma, Yanming Chen, Jun Cui, Ling Qi, Guojun Shi   +16 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

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source

Integrating Dense Genotyping with High‐Throughput Phenotyping Empowers the Genetic Dissection of Berry Quality and Resilience Traits in Grapevine

Advanced Science, EarlyView.
Researchers develop advanced tools to study grapevine traits like berry quality and stress resilience. A 200K SNP array and high‐throughput phenotyping enable the identification of loci linked to berry shape, sugar content, acidity, and cold tolerance. Functional validation of genes such as NAC08 reveals roles in cold tolerance.
Yuyu Zhang, Yongjian Wang, Michael Henke, Pablo Carbonell‐Bejerano, Zemin Wang, Pierre‐François Bert, Yi Wang, Huayang Li, Junhua Kong, Peige Fan, Zhanwu Dai, Zhenchang Liang   +11 more
wiley   +1 more source

DNA‐PKcs‐Driven YAP1 Phosphorylation and Nuclear Translocation: a Key Regulator of Ferroptosis in Hyperglycemia‐Induced Cardiac Dysfunction in Type 1 Diabetes

Advanced Science, EarlyView.
In the context of chronic hyperglycemia, a DDR is initiated, leading to the pathological activation of DNA‐PKcs in the diabetic heart. This activated DNA‐PKcs directly interacts with and phosphorylates YAP1 at Thr226, thereby increasing the nuclear expression of YAP1.
Junyan Wang, Xing Chang, Chun Li, Jing Gao, Zhijiang Guo, Haowen Zhuang, Lingjun Wang, Yusheng Huang, Wei Wang, Chao Li, Qingyong He   +10 more
wiley   +1 more source