Results 131 to 140 of about 157,645 (329)

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]

, 2013
BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
core   +2 more sources

Colorectal Cancer Cells–Derived Exosomal PIK3CA Mutation DNA Promotes Tumor Metastasis by Activating Fibroblast and Affecting Tumor Metastatic Microenvironment

Advanced Science, EarlyView.
PIK3CAH1047R DNA in colorectal cancer (CRC) cell‐derived exosomes can be delivered into recipient fibroblasts, where it is transcribed and translated, leading to the activation of fibroblasts into cancer‐associated fibroblasts, which secrete elevated levels of IL6. The simultaneous detection and targeting of PIK3CAH1047R mutation and IL6 may serve as a
Rui Wang, Wanming Li, Yuqiong Lv, Wei Ba, Ying Jiang, Xiaoshuai Li, Jin Fang   +6 more
wiley   +1 more source

Identification and Drug Screening of Single Cells from Human Tumors on Semiconductor Chip for Cancer Precision Medicine

Advanced Science, EarlyView.
The study innovatively integrates single‐cell electric impedance identification and drug screening on a semiconductor chip, addressing tumor heterogeneity limitations. The system achieves label‐free cancer cell recognition while concurrently evaluating drug efficacy on cancer cells and toxicity on noncancerous cells.
Wenhao Hui, Ka‐Meng Lei, Yingying Liu, Xinru Huang, Yunlong Zhong, Xiaojun Chen, Mingji Wei, Jie Yan, Ren Shen, Pui‐In Mak, Rui P. Martins, Shuhong Yi, Ping Wang, Yanwei Jia   +13 more
wiley   +1 more source

Plant Sequence Capture Optimised for Illumina Sequencing

Bio-Protocol, 2014
Plant Sequence Capture is used for targeted resequencing of whole exomes (all exons of a genome) of complex genomes e.g. barley and its relatives (Mascher et al., 2013).
Axel Himmelbach, Manuela Knauft , Nils Stein   +2 more
doaj   +1 more source

CD103+ T Cells Eliminate Damaged Alveolar Epithelial Type II Cells Under Oxidative Stress to Prevent Lung Tumorigenesis

Advanced Science, EarlyView.
This work unravels a novel function of CD103+ T cells in eradicating oxidative‐stressed somatic cells to prevent lung tumorigenesis and identifies specific CD103+ T cell‐decline as a key feature in the aged lung. This comprehensive study highlights the contribution of immuno‐dysregulation to the high incidence of aging‐associated lung cancers ...
Yu Xu, Haorui Luo, Jiahao Wang, Haifeng Liu, Luonan Chen, Hongbin Ji, Zimu Deng, Xiaolong Liu   +7 more
wiley   +1 more source

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness [PDF]

, 2012
Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz   +51 more
openalex   +2 more sources

Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing

Frontiers in Immunology, 2016
Background: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PID) have been identified, increasing the number of PID up to more than 250 well-defined forms.
Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata   +14 more
doaj   +1 more source

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency [PDF]

, 2010
Alexandre Bolze, Minji Byun, David McDonald, Neil V. Morgan, Avinash Abhyankar, Lakshmanane Premkumar, Anne Puel, Chris M. Bacon, Frédéric Rieux‐Laucat, Ki Pang, Alison Britland, Laurent Abel, Andrew J. Cant, Eamonn R. Maher, Stefan J. Riedl, Sophie Hambleton, Jean‐Laurent Casanova   +16 more
openalex   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia [version 2; referees: 2 approved]

F1000Research, 2017
X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding
Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu   +9 more
doaj   +1 more source