Results 51 to 60 of about 4,429,101 (170)

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability [PDF]

, 2014
Background: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios.
Baralle, Diana, The DDD study, Swoboda, KJ, Taft, R, Magee, A. C., Swoboda, Kathryn J., Taft, R., Turnpenny, Peter D., Baralle, D., Swodboda, Kathryn J., Baralle, D, Hunt, D, Magee, A.C., Turnpenny, Perter D., Taft, Ryan J., Hunt, David, Gawne-Cain, M, Hunt, D., Turnpenny, P.D., Gawne-Cain, M., Simons, C, Leventer, R. J., D. D. D. study, Simons, C., Gwan-Cain, Mary, Magee, AC, Taft, Ryan, Turnpenny, PD, Swoboda, K. J., Simons, Cas, Gawne-Cain, Mary, Leventer, Richard J., Leventer, R.J., Leventer, RJ, Swoboda, K.J., Magee, Alex C.   +35 more
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A Rapid Nanofocusing Method for a Deep-Sea Gene Sequencing Microscope Based on Critical Illumination

Sensors
In the deep-sea environment, the volume available for an in-situ gene sequencer is severely limited. In addition, optical imaging systems are subject to real-time, large-scale defocusing problems caused by ambient temperature fluctuations and vibrational
Ming Gao, Fengfeng Shu, Wenchao Zhou, Huan Li, Yihui Wu, Yue Wang, Shixun Zhao, Zihan Song   +7 more
doaj   +1 more source

Vibrio parahaemolyticus Infection in Mice Reduces Protective Gut Microbiota, Augmenting Disease Pathways

Frontiers in Microbiology, 2020
Vibrio parahaemolyticus (Vp), a major food-borne pathogen, is responsible for severe infections such as gastroenteritis and septicemia, which may be accompanied by life-threatening complications.
Rundong Wang, Rundong Wang, Yijia Deng, Qi Deng, Dongfang Sun, Zhijia Fang, Lijun Sun, Yaling Wang, Ravi Gooneratne   +8 more
doaj   +1 more source

The alternative 3′ splice site of GPNMB may promote neuronal survival after neonatal hypoxic–ischemic encephalopathy injury

Ibrain, 2022
This study aimed to decipher the effect of glycoprotein nonmetastatic melanoma protein B (GPNMB) on neonatal hypoxic–ischemic encephalopathy (NHIE) and its potential molecular mechanism.
Guo‐Jiao Chen, Shan‐Shan Yan, Jing‐Han Zhang, Ji Zhang, Isaac Bul Deng, Rong He   +5 more
doaj   +1 more source

Diagnostic applications of next generation sequencing: working towards quality standards [PDF]

, 2012
Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major
Klein, Hanns-Georg, Biskup, S., Vogl, Ina, Hirv, K., Greif, P.A., Kotschote, S., Gehring, A., Kuhn, M., Stuhrmann, Manfred, Bergmann, C., Eck, Sebastian H., Biskup, Saskia, Metzeler, Klaus H., Greif, Philipp A., Stuhrmann, M., Bolz, Hanno Joern, Benet-Pages, Anna, Hirv, Kaimo, Benet-Pagès, A., Klein, H.G., Vogl, I., Bolz, H.J., Kuhn, Marius, Kotschote, Stefan, Gehring, Andrea, Bergmann, Carsten, Metzeler, K.H., Eck, S.H.   +27 more
core   +1 more source

The Correlation between the Determination of Vaginal Micro-Ecological Composition and the Outcome of HPV Infection by High-Throughput Metagene Sequencing Information Technology on the Illumina Platform

Journal of Infection and Public Health, 2020
Objective: To study the correlation between vaginal micro-ecological composition and the outcome of human papillomavirus (HPV) infection by High-Throughput Metagene Sequencing Information Technology on the Illumina Platform, and to improve the efficiency
Weiye Cheng, Fei Xu, Leilei Gao, Jinwei Liu   +3 more
doaj   +1 more source

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Tommaso Pippucci (497773), Antonia Parmeggiani (497774), Parmeggiani, A., Cucca, Francesco, F. Cucca, Crisponi, Laura, A. Angius, Valentino, M. L., Valerio Carelli (24588), Maresca, Alessandra, F. Palombo, Flavia Palombo, Alessandra Maresca, Flavia Palombo (497775), Laura Crisponi (186209), Palombo, Flavia, Laura Crisponi, Francesco Cucca (145742), Francesco Cucca, Seri, Marco, L. Crisponi, Carelli, V., Marco Seri (497777), Liguori, Rocco, Liguori, R., Seri, M., Pippucci, Tommaso, Maria Lucia Valentino, Parmeggiani, Antonia, Angius, A., Valentino, Maria Lucia, Angius, Andrea, Maria Lucia Valentino (144915), Valerio Carelli, Rocco Liguori (144916), Andrea Angius, Carelli, Valerio, Andrea Angius (374302), Antonia Parmeggiani, Marco Seri, Pippucci, T., Alessandra Maresca (497776), Rocco Liguori, Palombo, F., Cucca, F., Tommaso Pippucci, Maresca, A.   +46 more
core   +1 more source

sequencing-dev/sequencing: v1.2.0

, 2022
What's Changed Update pulse phase convention by @qci-chou in https://github.com/sequencing-dev/sequencing/pull/12 Add option to use QobjEvo and by @loganbvh in https://github.com/sequencing-dev/sequencing/pull/13 Update main.py by @loganbvh in https ...
Logan Bishop-Van Horn
core   +1 more source

Nuclear RNA sequencing of the mouse erythroid cell transcriptome [PDF]

, 2012
Copyright @ 2012 The Authors. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Umlauf David, Catherine A. Moir (115926), Chakalova, L, Peter Fraser, Eskiw, CH, Mitchell, JA, Fraser, P, Mitchell Jennifer A., Schoenfelder, S, Umlauf, D, Clay Ieuan, Chakalova Lyubomira, David Umlauf (115924), Ieuan Clay, Jennifer A. Mitchell (32136), Schoenfelder Stefan, Chih-Yu Chen, Eskiw Christopher H., Stefan Schoenfelder, Ieuan Clay (115922), Chih-yu Chen (4730856), Fraser Peter, Takashi Nagano, Christopher H. Eskiw (115928), Takashi Nagano (115932), Christopher H Eskiw, Nagano Takashi, Lyubomira Chakalova, Nagano, T, Peter Fraser (32141), Stefan Schoenfelder (115930), Chen, CY, Moir, CA, Lyubomira Chakalova (23035), Chen Chih-yu, Jennifer A Mitchell, Clay, I, David Umlauf, Catherine A Moir, Moir Catherine A.   +39 more
core   +2 more sources

Molecular, immunological, and histological study of Cryptosporidium parvum in local duck Anas platyrhnchos in some regions of Mosul city, Iraq [PDF]

Iraqi Journal of Veterinary Sciences
The species and strain of Cryptosporidium parvum genotype in domestic ducks were recorded for the first-time using sequencing technologies in this study. In addition, it looks at the spread of Cryptosporidium parvum and the methods used to diagnose it in
Nawras T. Al-Hassan, Alyaa A. Al-Safo
doaj   +1 more source