Results 101 to 110 of about 54,945 (293)

Indels, structural variation, and recombination drive genomic diversity inPlasmodium falciparum [PDF]

, 2016
The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is ...
Campino, Susana, Drury, Eleanor, Ferdig, Michael, Gould, Kelda, Hayton, Karen, Iqbal, Zamin, Kwiatkowski, Dominic, MacInnis, Bronwyn, McVean, Gil, Mead, Daniel, Miles, Alistair, Mwangi, Jonathan, O'Brien, John, Pearson, Richard, Ranford-Cartwright, Lisa, Rayner, Julian, Ruano Rubio, Valentin, Samarakoon, Upeka, Su, Xin-zhuan, Theron, Michel, Vauterin, Paul, Wellems, Thomas   +21 more
core   +3 more sources

Indel sensitive and comprehensive variant/mutation detection from RNA sequencing data for precision medicine [PDF]

BMC Medical Genomics, 2018
RNA-seq is the most commonly used sequencing application. Not only does it measure gene expression but it is also an excellent media to detect important structural variants such as single nucleotide variants (SNVs), insertion/deletion (Indels) or fusion transcripts. However, detection of these variants is challenging and complex from RNA-seq.
Naresh Prodduturi, Aditya Bhagwate, Jean-Pierre A. Kocher, Zhifu Sun   +3 more
openaire   +3 more sources

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Two cases of intrahepatic cholangiocellular carcinoma with high insertion-deletion ratios that achieved a complete response following chemotherapy combined with PD-1 blockade

Journal for ImmunoTherapy of Cancer, 2019
BackgroundInsertion–deletion mutations (indels) may generate more tumour-specific neoantigens with high affinity to major histocompatibility complex class I.
Minghao Sui, Hongguang Wang, Ying Luo, Bingyang Hu, Yanshuang Cheng, Xianrong Lv, Xianlei Xin, Shichun Lu   +7 more
doaj   +1 more source

Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay.

PLoS ONE, 2020
Most Duchenne muscular dystrophy (DMD) cases are caused by deletions or duplications of one or more exons that disrupt the reading frame of DMD mRNA.
Pin Lyu, Kyung Whan Yoo, Manish Kumar Yadav, Anthony Atala, Annemieke Aartsma-Rus, Maaike van Putten, Dongsheng Duan, Baisong Lu, Baisong Lu   +8 more
doaj   +1 more source

Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis [PDF]

, 2016
Dedifferentiated chondrosarcoma (DDCS) is a rare disease with a dismal prognosis. DDCS consists of two morphologically distinct components: the cartilaginous and noncartilaginous components.
Cao, Dengfeng, Chen, Rongrong, Chen, Xi, DeLaney, Thomas F, Gao, Lu, Gao, Xiaohuan, Gong, Xinqi, Guo, Xiaopeng, Hong, Xiafei, Ni, Jianjiao, Tian, Pangzehuan, Wang, Renzhi, Xing, Bing, Yao, Yong   +13 more
core   +2 more sources

Structural and energetic analysis of stabilizing indel mutations

Amino acid insertions and deletions (indels) are among the most common protein mutations and necessitate changes to a protein's backbone geometry. Examining how indels affect protein folding stability (and especially how indels can increase stability) can help reveal the role of backbone energetics on stability and introduce new protein engineering ...
Yulia Maria Gutierrez, Gabriel Jacob Rocklin   +1 more
openaire   +2 more sources

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]

, 2017
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam, Barzegar, Mohammadreza, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol Mohammad, Mozafari, Nikoo, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +11 more
core   +1 more source

Versatile CRISPR‐Cas Tools for Gene Regulation in Zebrafish via an Enhanced Q Binary System

Advanced Science, EarlyView.
This study introduces CRISPR‐Q, a transgenic CRISPR‐Cas system leveraging the QFvpr/QUAS binary expression platform in zebrafish. CRISPR‐Q overcomes previous challenges in achieving stable and efficient gene regulation. By enabling precise spatiotemporal control of transcript knockdown (CRISPR‐QKD) and gene activation (CRISPR‐Qa), it provides a ...
Miaoyuan Shi, Weiqi Ge, Changheng Li, Bin Liu, Xiaoyi Deng, Chengjie Liu, Meijun Zheng, Pu Zhang, Lei Li, Ying Guo, Yunqi Han, Yu Yang, Yanxun V. Yu, Youngnam N. Jin   +13 more
wiley   +1 more source