Results 101 to 110 of about 227,823 (308)

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

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

Advanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei, Yu Zhou, Haitao Sun, Hang Yuan, Xinyu Pei, Jessica D. Hess, Yao Yan, Zunsong Hu, Mian Zhou, Zhaohui Gu, Li Zheng, Xiwei Wu, Binghui Shen   +12 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

A cancer cell-line titration series for evaluating somatic classification. [PDF]

, 2015
BackgroundAccurate detection of somatic single nucleotide variants and small insertions and deletions from DNA sequencing experiments of tumour-normal pairs is a challenging task.
Beck, Timothy, Brown, Andrew MK, Denroche, Robert E, McPherson, John D, Mullen, Laura, Stein, Lincoln, Timms, Lee, Yung, Christina K   +7 more
core   +2 more sources

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

EEPD1 Inhibition Unleashes Antitumor Immunity in Colorectal Cancer by Activating the cGAS‐STING Pathway

Advanced Science, EarlyView.
In colorectal cancer, high expression of the DNA repair protein EEPD1 correlates with immune exclusion and poor prognosis. This study demonstrates that EEPD1 depletion induces genomic instability, leading to cytosolic DNA accumulation and subsequent activation of the cGAS‐STING‐type I interferon pathway. This cascade remodels the tumor microenvironment
Liyun Huo, Chong Wu, Xiaobo Li, Caina Ma, Jiamin Huang, Zishuo Chen, Weiling He, Tianyu Tao, Weijing Zhang   +8 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

Advances in Gastric Cancer Research: Insights Into Carcinogenesis, the Tumor Microenvironment, Metastasis, and Factors Influencing Prognosis

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background The Department of Gastroenterological Surgery at Kumamoto University has maintained a commitment to integrating cutting‐edge clinical practice with fundamental research, particularly concerning malignant diseases of the digestive tract.
Hideo Baba, Takatsugu Ishimoto, Yoshifumi Baba, Hiromitsu Hayashi, Masaaki Iwatsuki   +4 more
wiley   +1 more source