Results 101 to 110 of about 225,081 (303)

Exome sequencing: a transformative technology [PDF]

The Lancet Neurology, 2011
Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well ...
openaire   +2 more sources

NK Cell Activation by Platinum Boosts Immunotherapy in HR+/HER2− Breast Cancer

Advanced Science, EarlyView.
Multi‐omics and single‐cell analyses identify activated NK cells as key mediators of anti‐PD‐(L)1 response in HR+/HER2− breast cancer. Platinum chemotherapy enhances NK cell cytotoxicity through NF‐κB–associated signaling, synergizing with immunotherapy and providing a rationale for combination treatment.
Yi‐Yu Chen, Yi‐Fan Zhou, Xuan Qi, Ya‐Xin Zhao, Tong Fu, Xi Jin, Minhong Shen, Yi‐Zhou Jiang, Zhi‐Ming Shao   +8 more
wiley   +1 more source

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders

Diagnostics
Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive.
Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Claudio Mastronardi, Mario A. Isaza-Ruget, Jorge I. Vélez, Donald P. Lewis, Hardip Patel, Brett A. Lidbury   +7 more
doaj   +1 more source

Exome-Wide Meta-Analysis Identifies Rare 3′-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea

Frontiers in Genetics, 2017
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality.
Ashley van der Spek, Annemarie I. Luik, Desana Kocevska, Chunyu Liu, Chunyu Liu, Chunyu Liu, Rutger W. W. Brouwer, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Robert Kraaij, Robert Kraaij, Albert Hofman, Albert Hofman, André G. Uitterlinden, André G. Uitterlinden, André G. Uitterlinden, Wilfred F. J. van IJcken, Daniel J. Gottlieb, Daniel J. Gottlieb, Daniel J. Gottlieb, Henning Tiemeier, Henning Tiemeier, Cornelia M. van Duijn, Najaf Amin   +26 more
doaj   +1 more source

Exome Sequencing Deciphers Rare Diseases [PDF]

Cell, 2011
Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
openaire   +2 more sources

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

Advanced Science, EarlyView.
Our study identifies MINAR1 as a novel regulator of cortical interneuron excitability and seizure susceptibility. MINAR1 is preferentially expressed in SST+ interneurons. Genetic ablation of MINAR1 leads to seizure hypersensitivity, reduced SST+ neuron excitability, and impaired Gαs–cAMP signaling, disrupting the E/I balance.
Wei‐Tang Liu, Zhi‐Bin Hu, Ling Hu, Yu‐Bing Wang, Qiong Zhang, Ning‐Ning Song, Xi‐Yue Liu, Jia‐Yin Chen, Hong‐Wen Zhu, Bing‐Yao Zhou, Yun‐Chao Tao, Li Zhao, Ze‐Xuan Li, Yi‐Wei Li, Jia‐Qi Chen, Si‐Xin Tu, Cong‐Cong Qi, Sai‐Dan Ding, Gang Peng, Lin Xu, Yu‐Qiang Ding   +20 more
wiley   +1 more source

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

EMBO Molecular Medicine, 2015
Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL ...
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri   +19 more
doaj   +1 more source

Workflow for the Implementation of Precision Genomics in Healthcare

Frontiers in Genetics, 2020
To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data.
Sanja Mehandziska, Aleksandra Stajkovska, Margarita Stavrevska, Kristina Jakovleva, Marija Janevska, Rodney Rosalia, Ivan Kungulovski, Zan Mitrev, Goran Kungulovski   +8 more
doaj   +1 more source

Whole-Exome Sequencing Study of Thyrotropin-Secreting Pituitary Adenomas [PDF]

, 2018
学位記番号 ...
Santosh, Sapkota, Santosh, Sapkota, サントス, サプコタ   +2 more
core  

Patient‐Derived 3D‐Bioprinted Intrahepatic Cholangiocarcinoma Models Recapitulate Tumor Autologous Traits and Predict Personalized Adjuvant Therapy

Advanced Science, EarlyView.
Leveraging 3D bioprinting, this study establishes patient‐derived in vitro models of intrahepatic cholangiocarcinoma. These models faithfully recapitulate the histopathology, molecular profiles, and genomic characteristics of the original patient tumors.
Yuce Lu, Liwei Du, Minghao Sun, Kai Zhang, Mingchang Pang, Shangze Jiang, Jiaxun Dong, Xiyue Liu, Bao Jin, Fu Xu, Hang Sun, Jiangang Zhang, Huiyu Yang, Xiaobo Yang, Xin Lu, Yiyao Xu, Haitao Zhao, Shunda Du, Xinting Sang, Yongchang Zheng, Lei Zhang, Xueshuai Wan, Huayu Yang, Yilei Mao   +23 more
wiley   +1 more source