Results 131 to 140 of about 373,405 (315)

Identification of intragenic variants in pediatric patients with intellectual disability in Peru

BMC Medical Genomics
Background Intellectual disability in Latin America can reach a frequency of 12% of the population, these may include nutritional deficiencies, exposure to toxic or infectious agents, and the lack of universal neonatal screening programs.
Hugo Hernán Abarca-Barriga, Flor Vásquez Sotomayor, Renzo Punil-Luciano, María Cristina Laso-Salazar, Heli Jaime Barrón-Pastor   +4 more
doaj   +1 more source

GNL3 Orchestrates AR Transcriptional Programs to Drive Castration‐Resistant Prostate Cancer and Immune Evasion

Advanced Science, EarlyView.
GNL3 is a novel AR coregulator with dual coactivator and corepressor functions in prostate cancer (PCa). Our study uncovers a previously unrecognized mechanism by which the AR transcriptional complex integrates oncogenic signaling and immune suppression.
Cuiting Zhang, Tin Long Cheong, Nitin Narwade, Dandan Dong, Mokan Deng, Zhengqiang Miao, Zhaoqiang Ding, Wenchao Li, Kate Man Kei Lei, Gong‐Hong Wei, Terence Chuen Wai Poon, Chu‐Xia Deng, Edwin Cheung   +12 more
wiley   +1 more source

The unseen world: environmental microbial sequencing and identification methods for ecologists [PDF]

, 2014
Archaea, bacteria, microeukaryotes, and the viruses that infect them (collectively “microorganisms”) are foundational components of all ecosystems, inhabiting almost every imaginable environment and comprising the majority of the planet’s organismal and ...
Aronson, Emma, Izard, Jacques, Klatt, Christian, Zhou, Jizhong, Zimmerman, Naupaka   +4 more
core   +1 more source

Genome‐Wide Association Study Reveals Insect Genetics and Microbial Symbiont Effects on Susceptibility of Diaphorina citri to the Citrus Greening Pathogen, Candidatus Liberibacter Asiaticus

Advanced Science, EarlyView.
This study investigates the genetic and microbial factors influencing the susceptibility of Diaphorina citri to the citrus greening pathogen Candidatus Liberibacter asiaticus (CLas), employing a microbiome Genome Wide Association Study. The research identifies a key gene encoding an MFS‐type transporter contributing to CLas infectivity and abundance in
Kai Liu, Qingcui He, Zeyue Lin, Shixuan Huang, Zichun Zhong, Pingyang Zhu, Mengge Gao, Luyao Zhao, Han Jin, Guiting Wu, Gurr M. Geoff, Qunxin Han, Rui Pang   +12 more
wiley   +1 more source

Additional file 5: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical pictures of patients #8 (A) and #9 (B) (mutated in ERCC8(CSA)). (PPTX 403 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

Synthetic spike-in standards for high-throughput 16S rRNA gene amplicon sequencing

Nucleic Acids Research, 2016
High-throughput sequencing of 16S rRNA gene amplicons (16S-seq) has become a widely deployed method for profiling complex microbial communities but technical pitfalls related to data reliability and quantification remain to be fully addressed.
Dieter M. Tourlousse, Satowa Yoshiike, Akiko Ohashi, S. Matsukura, N. Noda, Y. Sekiguchi   +5 more
semanticscholar   +1 more source

Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk

Advanced Science, EarlyView.
Integration of a pancreatic eQTL map with a GWAS meta‐analysis identifies 82 putative functional variants and 15 genes. The association between rs11102484 and pancreatic cancer risk is observed in a total of 5699 cases and 8467 controls. The G allele of rs11102484 weakens ZNF263 binding and the silencer‐promoter interaction, thereby increasing ST7L ...
Xiaoyang Wang, Hui Geng, Zhengyan Yao, Yuan Jiang, Can Chen, Zequn Lu, Shuangshuang Tian, Ming Zhang, Ruiyan Liu, Chenxi Feng, Bin Li, Xiaoping Miao, Jianbo Tian, Shaokai Zhang, Ying Zhu   +14 more
wiley   +1 more source

Heap: a highly sensitive and accurate SNP detection tool for low-coverage high-throughput sequencing data

DNA Research, 2017
Recent availability of large-scale genomic resources enables us to conduct so called genome-wide association studies (GWAS) and genomic prediction (GP) studies, particularly with next-generation sequencing (NGS) data.
Masaaki Kobayashi, Hajime Ohyanagi, H. Takanashi, Satomi Asano, Toru Kudo, H. Kajiya-Kanegae, A. Nagano, H. Tainaka, Tsuyoshi Tokunaga, Takashi Sazuka, H. Iwata, N. Tsutsumi, K. Yano   +12 more
semanticscholar   +1 more source

Gemella morbillorum Promotes Colorectal Carcinogenesis: LPBDCP‐Mediated Invasion Activates Ras Signaling and Destabilizes p53

Advanced Science, EarlyView.
ABSTRACT Gut microbiota dysbiosis promotes colorectal cancer (CRC) tumorigenesis. A global fecal metagenomic analysis identified Gemella morbillorum as a key contributor to the CRC‐associated microbiota. Fluorescence in situ hybridization revealed that Gemella morbillorum is enriched in CRC tumor tissues compared to adjacent normal tissues.
Zhen Wang, Jia Zhang, Haojie Lu, Jingjing Ni, Shuaishuai Yang, Yuting Shi, Shuo Zhang, Pei Zhang, Li Liu   +8 more
wiley   +1 more source

Additional file 7: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical picture and molecular results of patients #17 (mutated in ERCC3(XPB)). A: clinical picture of patient #17. B: Patient #17 reads alignment (thanks to Alamut Visual) showing that both mutations c.296 T > C and c.325C > T were never observed on the same read. Forward reads are in green and reverse reads are in blue. (PPTX 477 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source