Results 121 to 130 of about 54,945 (293)

CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses

Stem Cell Research
Heterozygous beta-actin (ACTB) indel and nonsense mutations are linked to developmental disorders. We generated two CRISPR/Cas9 human induced pluripotent stem cell (iPSC) lines, WTSIi018-B-19 and WTSIi018-B-20, carrying heterozygous and homozygous indel ...
Stephanie Binder, Haribaskar Ramachandran, Denise Haslinger, Barbara Hildebrandt, Jochen Dobner, Thomas Haarmann-Stemmann, Andreas Chiocchetti, Andrea Rossi   +7 more
doaj   +1 more source

The Relationship between Embryonic Development and the Efficiency of Target Mutations in Porcine Endogenous Retroviruses (PERVs) Pol Genes in Porcine Embryos

Animals, 2019
Porcine endogenous retrovirus (PERV) is a provirus found in the pig genome that may act as an infectious pathogen in humans who receive pig organ xenotransplantation.
Maki Hirata, Manita Wittayarat, Takayuki Hirano, Nhien Thi Nguyen, Quynh Anh Le, Zhao Namula, Mokhamad Fahrudin, Fuminori Tanihara, Takeshige Otoi   +8 more
doaj   +1 more source

Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]

, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Abdul Ethayathulla, Birendra Yadav, Firdos Ahmad, Meganathan Kannan, Rajive Kumar, Renu Saxena, Ved Choudhry   +6 more
core   +1 more source

Indels allow antiviral proteins to evolve functional novelty inaccessible by missense mutations

Cell Genomics
Antiviral proteins often evolve rapidly at virus-binding interfaces to defend against new viruses. We investigated whether antiviral adaptation via missense mutations might face limits, which insertion or deletion mutations (indels) could overcome. We report one such case of a nearly insurmountable evolutionary challenge: the human anti-retroviral ...
Jeannette L. Tenthorey, Serena del Banco, Ishrak Ramzan, Hayley Klingenberg, Chang Liu, Michael Emerman, Harmit S. Malik   +6 more
openaire   +3 more sources

Engineering Compact Base Editors by AlphaFold‐Guided Mutation Scan and Escherichia coli‐Based Tri‐Selection

Advanced Science, EarlyView.
A miniaturized deaminase SsdAtox was scanned with AlphaFold to identify DNA binding pocket hot spots. Site‐saturation mutagenesis at gatekeeper residue K31 yielded ten‐fold activity enhancement. Trinity Screen, an E. coli‐based three‐in‐one platform selecting for high activity and reduced double‐strand breaks, enabled combinatorial evolution at DNA ...
Ryeo Gang Son, Goeun Kim, Jungjoon K. Lee   +2 more
wiley   +1 more source

Structure‐Guided Engineering of a Cas12i Nuclease Unlocks Near‐PAMless Genome Editing

Advanced Science, EarlyView.
CRISPR‐Cas nucleases are limited by PAM requirements, restricting genome accessibility. Structure‐guided engineering of the compact Cas12i nuclease SF01 produced three variants with near‐PAMless, enabling efficient editing at diverse 5'‐NNTN‐3' sites. These nucleases expand the editable portion of the human genome more than fourfold, enabling efficient
Qitong Chen, Hanlin Gou, Chao Xu, Sihan Wang, Huitao Zhang, Minglei Song, Mengge Wang, Xingkun Ji, Xiaofei Wei, Yuanyan Tan, Hehua Quan, Pengyu Luo, Hanyu Shou, Pengpeng Liu, Yafeng Liang, Jian‐Kang Zhu   +15 more
wiley   +1 more source

A novel EGFR exon 21 indel mutation in lung adenocarcinoma and response to dacomitinib: A case report. [PDF]

Medicine (Baltimore), 2022
Zhou T, Xiong Q, Hong C, Wang Q, Wang W, Xu C, Cai J, Yangtze River Delta Lung Cancer Cooperation Group.   +7 more
europepmc   +1 more source

cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data

Advanced Science, EarlyView.
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao, Yadong Liu, Miao Cui, Runtian Gao, Weimin Guo, Guohua Wang, Yadong Wang, Tao Jiang   +7 more
wiley   +1 more source

TraceHaplotyper: using direct sequencing to determine the phase of an indel followed by biallelic SNPs

BioTechniques, 2007
Sequencing of a diploid PCR product that is heterozygous for an indel mutation and a downstream single nucleotide polymorphism (SNP) allows determination of haplotype phase.
Yanir Seroussi, Eyal Seroussi
doaj   +1 more source

A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation. [PDF]

Medicine (Baltimore), 2021
Jia Z, Zhang Y, Deng J, Guo Y, Du Y, Wang G, Xu J, Li X.   +7 more
europepmc   +1 more source