Results 121 to 130 of about 340,805 (190)

Whole genome sequencing [PDF]

, 2014
Löfström, Charlotta, Møller Nielsen, Eva, Torpdahl, Mia   +2 more
core  

Whole Genome Sequencing [PDF]

, 2019
openaire   +1 more source

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

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

High Fat Low Carbohydrate Diet Is Linked to CNS Autoimmunity Protection

Advanced Science, EarlyView.
Mapping global epidemiological data to macronutrient supply reveals high carbohydrate, in contrast to high fat supply, associates with increased multiple sclerosis (MS) prevalence and incidence. This is confirmed in a mouse MS model, experimental autoimmune encephalomyelitis (EAE), using isocaloric diets: a high carbohydrate diet aggravates, a high ...
Duan Ni, Jian Tan, Julen Reyes, Alistair M Senior, Caitlin Andrews, Jemma Taitz, Camille Potier‐Villette, Claire Wishart, Alanna Spiteri, Laura Piccio, Nicholas Jonathan Cole King, Romain Barrès, David Raubenheimer, Stephen James Simpson, Ralph Nanan, Laurence Macia   +15 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

Histone Lactylation Antagonizes Senescence and Skeletal Muscle Aging by Modulating Aging‐Related Pathways

Advanced Science, EarlyView.
This study reveals histone lactylation as a metabolic‐epigenetic regulator countering cellular senescence and skeletal muscle aging. Reduced lactylation impairs cell cycle, DNA repair and proteostasis pathways, while exercise restores glycolytic activity and lactylation levels, preserving muscle function.
Fanju Meng, Jianuo He, Xuebin Zhang, Wencong Lyu, Ran Wei, Shiyi Wang, Zhehao Du, Haochen Wang, Jinlong Bi, Xueyang Hua, Chao Zhang, Yiting Guan, Guoliang Lyu, Xiao‐Li Tian, Lijun Zhang, Wenbing Xie, Wei Tao   +16 more
wiley   +1 more source

Integrative Multi‐Omics and Routine Blood Analysis Using Deep Learning: Cost‐Effective Early Prediction of Chronic Disease Risks

Advanced Science, EarlyView.
Omicsformer, a deep learning model, integrates multi‐omics and routine blood data to accurately predict risks for nine chronic diseases, including cancer and cardiovascular conditions. Validated using large scale clinical data, it reveals early risk trajectories, advancing personalized medicine and offering a cost‐effective, community‐based solution ...
Zhibin Dong, Pei Li, Yi Jiang, Zhihan Wang, Shihui Fu, Hebin Che, Meng Liu, Xiaojing Zhao, Chunlei Liu, Chenghui Zhao, Qin Zhong, Chongyou Rao, Siwei Wang, Suyuan Liu, Dayu Hu, Dongjin Wang, Juntao Gao, Kai Guo, Xinwang Liu, En Zhu, Kunlun He   +20 more
wiley   +1 more source

KDM6A Deficiency Induces Myeloid Bias and Promotes CMML‐Like Disease Through JAK/STAT3 Activation by Repressing SOCS3

Advanced Science, EarlyView.
Lysine demethylase 6A (KDM6A), an epigenetic regulator expressed in hematopoietic stem and progenitor cells (HSPCs), plays a critical role in hematopoietic homeostasis. Deficiency of KDM6A induces myeloid lineage skewing and drives the development of a chronic myelomonocytic leukemia (CMML)‐like disease.
Huiqiao Chen, Shufen Wang, Ruoyu Dong, Pinghui Yu, Tianyu Li, Liangning Hu, Mowang Wang, Zijun Qian, Hongyu Zhou, Xiaoyan Yue, Limengmeng Wang, Haowen Xiao   +11 more
wiley   +1 more source